A 34-year-old female was referred to cardiology outpatient department with complains of shortness of breath and palpitation. Chest X-ray showed increased broncho-vascular markings. Electrocardiogram showed P pulmonale, right ventricular hypertrophy, and heart rate (HR) 100/min with normal sinus rhythm. The two-dimensional transthoracic echocardiography (TTE) revealed a large ostium secundum ASD (26 mm × 21 mm) having left to right shunt with mild tricuspid regurgitation (TR), moderate pulmonary artery (PA) hypertension, and left ventricular ejection fraction of 60%. The patient was recruited for trans-catheter ASD device closure. Transesophageal echocardiography (TEE) was performed in catheterization laboratory (CL) and revealed a large secundum ASD measuring 26 mm size, with sufficient rims surrounding ASD. On catheterization, right ventricular pressure recorded as 55/20 mm Hg with mean 34 mm Hg. Amplatzer ASD occluder (St. Jude Medical, St. Paul, Minnesota, USA) of 36 mm diameter was implanted under monitored anesthesia care with propofol and fentanyl. After 5 min, peripheral oxygen saturation (SpO2) dropped to 90% with blood pressure (BP) 130/82 mm Hg and HR 110/min. Repeat TTE detected migration of ASD device to RVOT.
Catheter guided retrieval was tried but failed. The SpO2 dropped further to 80% with BP 82/46 mm Hg and HR 124/min. Tracheal intubation was done and the patient shifted to operating room (OR). Intraoperative TEE revealed, device below pulmonary valve in the RVOT [], a large ASD and severe TR []. After heparinization with activated clotting time >480 s, cardiopulmonary bypass (CPB) was established. After opening the right atrial chamber, surgeon noticed an abrasion in the anterior part of inter-atrial septum; the device was stucked in posterior chordae tendineae of tricuspid valve []. The device was retrieved followed by Dacron patch closure of ASD and tricuspid valve repair. The patient was weaned from CPB with infusion of nitroglycerine 1 μg/kg/m and TEE confirmed successful closure of ASD [].
Hemodynamic parameters remained stable with SpO2 100%. Intraoperative period was uneventful. The patient was shifted to intensive care unit and extubated after 6 h. In postoperative period, Doppler ultrasonography was performed which showed normal flow in bilateral femoral arteries and veins. The patient was discharged from hospital on the seventh postoperative day.


A 51-year-old man (height 168 cm, weight 79 kg) presented with right vestibular schwannoma and an underlying bronchiectasis of the right lung. He had presented with the symptoms of progressive loss of hearing and imbalance while walking.
He gave a history of a cough with expectoration and recurrent lung infections since childhood and was evaluated for tuberculosis and found to be negative. During this admission, he had a cough but he could not bring out the sputum. Since there were no signs of active lung infection, we did not perform a bronchoscopy to evaluate cause for bronchiectasis. He is a hypertensive for 20 years on treatment with amlodipine 5 mg once daily. On examination, he had extensive crepitation over the right hemithorax, and tracheal shift to the right. His magnetic resonance imaging brain (T2-weighted image), showed a large vestibular schwannoma (5.2 cm × 4.3 cm × 3.5 cm in size) with obstructive hydrocephalus []. His chest X-ray findings showed right-sided bronchiectasis and fibrosis with the gross mediastinal shift []. Spirometry revealed a moderate obstructive pulmonary disease. Preoperative arterial blood gas analysis (ABG) on room air showed compensated respiratory acidosis with the pH of 7.43, PaO2 of 74 mmHg and partial pressure of arterial carbon dioxide (PaCO2) of 48 mmHg with HCO3 of 31 mmHg. An echocardiogram revealed left ventricular (LV) hypertrophy with normal LV systolic function, and there was no pulmonary hypertension.
In view of severe bronchiectasis and long duration surgery in the left lateral position (diseased side of the lung being up), decided to isolate the right lung using right-sided double lumen tube (RDLT). In this case, we chose to put a RDLT because of the following reasons.
The angle between bronchus and trachea was obliterated because of lung fibrosis with the mediastinal shift. Right bronchus was almost in a straight line with the trachea []. Hence, placement of RDLT will be easy when compared to the left. With a left DLT, secretion from the right lung can get accumulated above the left bronchial cuff. The presence of low pressure cuff cannot provide a tight seal against spillage. Hence, we felt that presence of RDLT will give better protection than the left DLT.
In the operating theater, standard monitors including electrocardiogram, pulse oximetry, and noninvasive blood pressure were connected. His room air saturation was 94%. Modified rapid sequence induction was done using 2 μg/kg of fentanyl and 2 mg/kg of propofol, and was then paralyzed with 1.0 mg/kg of rocuronium and intubated with 39F RDLT. Mallinckdrodt™ the tube position was confirmed by fiber-optic bronchoscopy (FOB). Both the lungs were suctioned separately before placing the patient in the left lateral position. After positioning, the head was fixed using Mayfield head clamp, repeat FOB was done to confirm the lung isolation. Copious thick purulent secretion was suctioned out from the right lung. To assess the contribution of the right lung on CO2 elimination split lung ventilation was performed by ventilating only diseased lung (right side). There was a significant ETCO2 value noted (20 mmHg) while ventilating the right lung, we have decided ventilate both lungs. The patient was ventilated with pressure controlled ventilation using lung protective ventilation strategies. The end-tidal CO2 was maintained between 35 and 37 mm of Hg.
Intraoperatively, anesthesia was maintained using air, oxygen (FiO20.6) and isoflurane, and vecuronium infusion. Intermittent bolus doses of fentanyl and intravenous paracetamol were given for analgesia. Serial ABG's were taken to ensure the adequacy of ventilation. PaCO2 was maintained between 40 and 45 mmHg (baseline value was 49 mmHg). Vitals were stable throughout the surgery. Brain relaxation was reported adequate during the surgery.
The surgery lasted for 6 h. At the end of surgery, bilateral endobronchial suctioning was done in the lateral position. An intravenous lignocaine (1.5 mg/kg) was given to prevent coughing before placing the patient in supine oblique (left side up). Residual neuromuscular blockade was reversed with neostigmine (0.05 mg/kg) and glycopyrrolate (0.01 mg/kg). The trachea was extubated when the patient was fully awake. The patient was shifted to the Neurosurgical Intensive Care Unit (NICU) in the right lateral position. His postoperative chest X-ray showed clear lung field on the left side []. He was monitored in NICU for 2 days and shifted to ward. Later, he was discharged from the hospital in a good clinical state.


We present the case of an 85-year-old woman with critical aortic stenosis who underwent 23-mm Medtronic CoreValve implantation 5 months before admission. She presented with typical symptoms diagnostic of recurrent angina in addition to exertional dyspnea, orthopnea, and leg edema. Physical examination revealed normal vital signs, but with jugular venous distention, bibasilar crackles, and lower extremity edema. No gallops or murmurs were appreciated on examination. Abnormal laboratory findings were consistent with a mild renal insufficiency and included an elevated pro-brain natriuretic peptide. EKG showed paroxysmal atrial tachycardia with ST-depression in the anterolateral and inferolateral leads []. The patient was admitted with the diagnosis of acute decompensated heart failure and was treated with diuretics. An echocardiogram demonstrated severely depressed systolic function with an ejection fraction <15%, compared to 45% before her TAVI 5 months earlier. Considering the patient's worsening systolic function, recurrent angina, and decreased functional capacity, she underwent cardiac catheterization. An ascending aortography was performed using 5-French pigtail catheter. During ascending angiography, the valve leaflets were seen to be opening, however, the leaflets of the CoreValve are not superimposed on the calcific retained leaflets of the initial valve and coronary ostial obstruction was suspected due to high implantation of the CoreValve []. Furthermore, poor positioning of the valve prevented unselective ostial cannulation and CA or any possible PCI could not be achieved if any lesion was to be found. Subsequently, the patient developed respiratory distress and cardiogenic shock, and an intra-aortic balloon device was inserted for circulatory support. Unfortunately, patient expired from refractory cardiogenic shock.


A 3-year-old boy was admitted with complaints of cough, cold, fever, and poor oral intake for 2 days. He had two episodes of febrile convulsions in the past 1 year. The episodes would begin with sudden onset vomiting accompanied by cyanosis and moderate to high-grade fever. After the vomiting, he would develop deviation of eyes to one side lasting for approximately 30 min. This was followed by loss of consciousness of variable duration, ranging from 1 h to 12 h. After the second episode, electroencephalogram (EEG), cerebrospinal fluid studies, and neuroimaging were done which were normal. He was not started on any prophylactic antiepileptic medications, and a diagnosis of atypical febrile convulsions was made. His birth and developmental history was normal. There was no family history of epilepsy. On admission, he was febrile with mild congestion in the throat. Rest of the general and systemic examination was normal. He was started on symptomatic treatment after admission. At 0400 h in the night, he developed high-grade fever and vomiting. This was followed by bluish discoloration of the extremities, tachypnea, and deviation of both eyes to the right side. The episode lasted for about 10–15 min. He was unresponsive during the entire episode. He passed a large quantity of loose stools, had the second episode of vomiting, and became drowsy after the episode. His temperature was 39.9°C, oxygen saturation 90%, blood pressure 72/30 mmHg, respiratory rate 39/min, and heart rate 220/min. Fluid resuscitation was done, and high flow oxygen was started. Loading dose of phenytoin (20 mg/kg) was administered. His electrocardiogram showed sinus tachycardia. He was shifted to Intensive Care Unit for observation and monitoring. Within 2 h, he started regaining consciousness and became hemodynamically stable. Within 5 h of the episode, he was fully conscious with a normal neurological examination. After 24 h, he was shifted out to the pediatric ward. Complete blood count, serum electrolytes, blood gases, serum calcium, serum magnesium, and glucose levels were within normal ranges. Blood and urine culture were normal. C-reactive protein was 0.2 mg/L (normal <5). He was discharged after 3 days from the hospital. Phenytoin was continued for 3 days after discharge and stopped. The manifestation during the episode was similar to that seen in septic shock. However, the rapid recovery, normal investigations, and previous history of similar episodes ruled out septic shock. On follow-up after 2 months, he was asymptomatic and had a normal neurological examination. Neuroimaging and EEG were normal.


A 63-year-old woman reported bilateral visual impairment of 6 months' duration. At the first examination, the best-corrected visual acuity was 0.6 (20/30) in the right eye and 0.5 (20/40) in the left eye. The refractive error in the right eye was sphere −3.50 dpt and cylinder −0.50 × 60 dpt and in the left eye it was sphere −3.75 dpt and cylinder −1.25 × 93 dpt. A dilated fundus examination showed bilateral IPS with crescent borders and retinal detachments at the foveae. Both foveae were on the edge of the IPS. The axial length (AL) measured by laser interference biometry (IOLMaster 500, Carl Zeiss Meditec Inc., Dublin, Calif., USA) was 24.81 mm in the right eye and 24.70 mm in the left eye. There was no visual field defect. Optical coherence tomography (Heidelberg Engineering, Heidelberg, Germany) showed SRDs and shallow RPE detachments bilaterally. The retina and choroid protruded into the vitreous cavity at the upper IPS border. The choroidal thickness in the staphyloma decreased compared to that in the superior fovea. Fluorescein angiography (FA) showed a granular hyperfluorescence pattern and diffuse hyperfluorescence in the late phase along the superior staphyloma border. We did not observe obvious dye leakage or signs of CNV in either fovea. Late-phase indocyanine green angiography (ICGA) showed belt-like hypofluorescence on the superior staphyloma borders. We did not detect hyperfluorescence indicating CNV on late-phase ICGA images (fig. ). The patient opted to undergo scleral shortening with vitrectomy and provided informed consent preoperatively after she had been informed that anti-VEGF therapy and photodynamic therapy were ineffective for this type of retinal detachment in eyes with IPS [,], that scleral shortening may improve the anatomic abnormalities of posterior staphyloma, as well as about the possible adverse events associated with the procedure and the possible ineffectiveness even after successful scleral shortening with vitrectomy.
We performed the surgery with written informed consent. Shortly after the cataract surgery, a bridle suture was placed at each rectus muscle, and the lamellar scleral crescent was resected 4 mm in width from the 5- to the 8-o'clock positions. Seven interrupted 5-0 polyester preplaced mattress sutures (Marciline, Ethicon, West Somerville, N.J., USA) were placed at the edge of the lamellar scleral crescent. After vitrectomy with induction of posterior vitreous detachment (PVD), the mattress suture was tightened.
The curvature of the protrusion at the fovea flattened postoperatively. The SRD height gradually resolved and the RPE detachment decreased over 3 months postoperatively. The choroidal thickness decreased in the superior flat area of the retina but increased slightly in the staphyloma (fig. ). The best-corrected visual acuity improved to 0.8 (20/25); the refractive error was sphere −1.50 dpt and cylinder −2.50 × 175 dpt. FA 6 months postoperatively showed that the diffuse foveal hyperfluorescence in the right eye decreased slightly (fig. ). The area of belt-like hypofluorescence and the caliber of the choroidal vessels were the same as preoperatively on ICGA images. The AL shortened from 24.81 mm preoperatively to 24.19 mm at 9 months postoperatively. The SRD remained in OS.


We report a case of a 58-year-old Spanish woman resident in New York who presented at our facility with complaints of constipation which had worsened over the past 6 months and onset of hematochezia of a 3 days duration. Her past medical history was statistically significant for schizoaffective disorder and gastroesophageal reflux disease.
Clinical examination revealed a healthy middle-aged woman with a body mass index of 28.1 kg/m2 and normal vital signs. The only abnormal finding on clinical examination was a palpable circumscribed mass compressing on her rectum by digital rectal examination. Her rectum was also filled with hard, pellet-like feces, and altered blood. Blood electrolytes were normal and complete blood count was also normal. Her admitting hematocrit was 46%, and fecal occult blood test was positive. Alpha-fetoprotein, carcinoembryonic antigen, and ca - 199 tumor markers were all normal. The patient was admitted and serial hematocrit measurements remained within normal limits. An upper gastrointestinal endoscopy on the 2nd day of admission showed gastritis.
Pelvic MRI [Figures and ] revealed a 7.5 cm × 5 cm × 6 cm cystic pelvic mass adherent anteriorly to the left lateral wall of the rectum and also adherent to the sacrum posteriorly. There were compression and displacement of the rectal lumen anteriorly and to the right. There was an absence of the uterus from a prior hysterectomy. There was no pelvic sidewall adenopathy or free fluid in the pelvis.
The clinical consideration at this juncture was the possibility of a developmental cyst with low considerations for cystic ovarian or rectal neoplasms due to negative relevant symptomatology and negative tumor markers. A colonoscopy revealed a significant narrowing of the rectum with mucosal erythema and inflammation but no active bleeding. There was no evidence of intra-luminal communication of the tumor.
She underwent an elective surgical excision in which the posterior trans-sacrococcygeal technique was utilized. The patient was positioned in the jackknife position, and a midline incision was made over the coccyx and deepened to the bone with resection of the coccygeal bone. The posterior rectal fat was carefully dissected utilizing both blunt, sharp dissection, and the mass [] was completely excised from surrounding structures. Grossly, the cyst was tan – colored, weighed approximately 0.8 kg and measured 10 cm × 6 cm × 7 cm in its greatest dimension. It contained a cheesy gelatinous material. Intraoperative flexible proctoscopy confirmed an intact rectum. The surgical wound was closed in layers with a size 10 Jackson-pratt drain left in situ. Pathology was compatible with the epidermoid cyst. No coccygeal involvement, no atypia or malignancy was identified on histology. She was subsequently discharged on the third postoperative day following drain removal. The patient remains recurrence-free 1 year postsurgical resection.


The patient is a 21-year-old previously healthy male brought to the trauma bay after sustaining a gunshot wound to the left upper back scapular region. His primary survey was remarkable for a zone 2 non-expanding hematoma of the left neck without a wound in the neck, requiring prophylactic intubation for airway protection. Chest X-ray demonstrated a hemopneumothorax, for which a chest tube was placed. Secondary survey was notable for the previously mentioned gunshot wound. Computed tomography (CT) angiogram of the neck and chest was then performed, showing the left neck hematoma mentioned previously along with bullet fragment artifact that interfered with image interpretation at the level of the left distal common carotid (CCA) and proximal internal carotid arteries (ICA) (). No pseudoaneurysm was observed. The contralateral cervical vessels and intra-thoracic vasculature were intact. Vascular surgery was consulted to evaluate this lesion. At that point, the patient was following commands and moving all four extremities; however, he was intubated and a comprehensive assessment of his cranial nerve function was not feasible. A carotid angiogram was performed. This did not reveal any traumatic injury to the cervical or intra-thoracic vasculature, namely the absence of pseudoaneurysm, dissection, thrombosis, or fistula. The patient was then managed conservatively post-procedure. He was initially in the intensive care unit (ICU) for neurovascular checks until he was extubated. His chest tube was subsequently removed, and he was discharged home without any antiplatelet or anticoagulants.
A total of 3 months later, the patient presented to the Emergency Department with an enlarging pulsatile mass on his left neck. He was doing well until 3 days prior, when he developed pain and dysphagia. On evaluation, he was also found to have hoarseness, and tongue deviation to the left. The patient admitted to these symptoms being present over the past months but had worsened over the past 3 days. He was hemodynamically stable and underwent repeat CT angiogram of the neck (see ). This showed a 6-cm pseudoaneurysm arising from the proximal left internal carotid artery (ICA). Secondary to the proposed mass effect by the hematoma/pseudoaneurysm complex on the neighboring nerves and hypopharynx, decision was made to manage this with an open procedure to evacuate the hematoma (). The patient underwent an end-to-end left CCA to left ICA bypass with reversed great saphenous vein, and ligation of the left external carotid artery (). No shunts were used. The patient was hemodynamically normal throughout the case, and there were no concerning electroencephalography (EEG) changes during carotid clamping. He was extubated immediately post-operatively. No new neurological deficits were noted. He was discharged home 3 days later and seen in clinic 2 weeks afterwards with improved hoarseness and left tongue deviation, an intact surgical incision, and no clinical evidence of a recurrent pseudoaneurysm or hematoma.


In a 75-year-old Japanese man, a large duodenal tumor was identified on computed tomography (CT) in 2008 and was suspected as GIST on endoscopic ultrasonography. However, the patient refused further investigation and underwent a follow-up visit. He also had chronic kidney disease, due to type 2 diabetes, and began a course of hemodialysis three times weekly in 2014.
A large-volume and painless tarry stool with hemorrhagic shock occurred in April 2014. A complete blood count showed a hemoglobin level of 6.3 g/dl, and the patient required transfusion of 32 units of packed red blood cells to recover a general condition. Contrast agent-enhanced CT scans revealed a duodenal tumor 14 cm in diameter, with multiple liver and bone metastases. The patient underwent an urgent upper endoscopy, which showed a 3.5-cm submucosal tumor with stigmata of recent hemorrhage in the bulb of the duodenum. Endoscopic hemostasis was not conducted due to the large exposed vessel, and an urgent pancreaticoduodenectomy was performed to achieve hemostasis. The resected tumor showed a GIST composed of spindle-shaped cells with positive staining for KIT and CD34 and negative staining for S-100; the mitotic count was 12 per 50 high-power fields, and the MIB-1 labeling index was 10% (fig. ).
After surgery, the patient was treated with imatinib at a dose of 400 mg daily (orally). Myelosuppression did not occur during treatment. Complete blood counts showed a white blood cell count in the range of 36–69 × 102/l, a hemoglobin level range of 8.9-10.2 g/dl, and a platelet count range of 162–265 × 103/l. No congestive heart failure occurred. Hemodialysis continued three times per week without adverse events. Furthermore, no severe adverse event, including liver functional impairment, intestinal pneumonia, or Stevens-Johnson syndrome occurred. However, mild adverse events including fatigue and edema were observed, and his metastases remained stable for 4 months. Finally, imatinib treatment was discontinued because of progression of the disease and worsening performance status in January 2015. The patient died of duodenal perforation induced by residual tumor progression in February 2015, 6 years after the initial diagnosis and 5 months after chemotherapy for GIST.


A 14-year-old post-pubertal girl presented with complaints of pain and swelling of her left collar bone which was of insidious onset and gradually progressive over a period of 1 year. There was history of fever on and off, along with history of intermittent serous discharge from a wound over the swelling over the past 6months. There was a history of biopsy being done outside which was an inadequate sample to be commented upon. On examination, the patient was febrile. There was a diffuse swelling of the left clavicle extending from the sternal end up to the left shoulder. Skin over the swelling showed a healed biopsy scar mark. There was a discharging sinus adjacent to the scar mark. On palpation, there was local rise of temperature. The swelling was tender, ill-defined with bony hard consistency. There were four discrete, non-tender lymph nodes palpable, two each, in the axillary group and the cervical group, largest of them measuring 0.5 cm × 0.5 cm in dimension. Left shoulder range of motion was painful and globally restricted. A provisional diagnosis of acute on chronic osteomyelitis was made. The erythrocyte sedimentation rate was high (40 mm/h). The total and differential blood leukocyte countsrevealed leukocytosis with a neutrophilic preponderance. Mantoux test was equivocal. The wound discharge was subjected to bacterial and acid-fast bacilli staining and culture, which subsequently turned out to be sterile, adding on to the diagnostic dilemma.
Plain radiographs revealed a diffuse periosteal thickening encircling the clavicle extending from its sternal end to lateral third []. Shoulder joint was normal. Computed tomography (64-detector CT scanner, Lightspeed® VCT, GE Healthcare, Buckinghamshire, UK) showed irregularity and sclerosis of left clavicle along with heterogeneous ossification []. Magnetic resonance imaging (3.0 Tesla MR scanner, MagnetomVerio, Siemens, Erlangen, Germany) showed altered heterogeneous T2 signal within the marrow of the clavicle. The cortical delineation was ill-defined at places with gross periosteal thickening []. Tc99m labeled methylene diphosphonate (MDP) bone scan showed evidence of active bony inflammation in the left clavicle. A repeat biopsy showed immature woven bone with characteristic osteoblastic rimming in a background of fibrovascularstroma. On immunohistochemistry utilizing pan cytokeratin antibody stain, isolated cells in the fibrous stroma were cytokeratin (AE1/AE3 + CK-1) positive. Both histopathology and immunohistochemistry helped in clinching the final diagnosis-ossifying fibroma []. The patient had progressive worsening of symptoms-increase in swelling size along with active signs of inflammation in spite of starting empirical antibiotics -warranting a surgical intervention. As the entire clavicle was found involved by the disease process, excision of the lesion en masse with the clavicle in toto was done []. Postoperative period was uneventful.


An 81-year-old woman presented to her primary care physician with fatigue and muscle soreness in her left thigh. Routine blood work revealed anemia with a hemoglobin level of 8.9 g/dL and a mean corpuscular volume of 110.7 fL. Serum folate and vitamin B12 levels were within normal ranges. Further workup revealed a total serum protein level of 9.8 g/dL and beta-2 microglobulin level of 3.5 mg/L. An abnormal protein band was found on immunofixation, which tested positive for IgAkappa.
Bone marrow biopsy examination revealed 60% cellularity, with 80% immature plasma cells. Chromosomal analysis revealed a complex karyotype with trisomy 3 and monosomy 13. Fluorescence in situ hybridization (FISH) analysis confirmed the presence of a plasma cell clone with the above-mentioned trisomy plus FGFR3/IGH fusion, t(4;14). This patient was deemed a high-risk patient based on the cytogenetic analyses [].
She was treated with melphalan and prednisone, but the MM progressed after 1 cycle. She was then switched to bortezomib at a dose of 1.3 mg/m2 with 40 mg of dexamethasone weekly. She received 4 cycles of the second regimen.
Five months after initial diagnosis, the patient presented to the emergency room with worsening dyspnea. On examination, she was found to be in moderate respiratory distress, with bilateral scattered rales and dullness to percussion over her left lower chest. Chest computed tomography (CT) revealed large left-sided and moderate right-sided pleural effusions, left upper lobe nodular opacity, and pleural nodularity ().
The patient underwent left thoracentesis, which revealed 550 mL of straw-colored fluid. Cytologic analysis of the pleural fluid revealed numerous atypical plasmacytoid cells with multinucleated forms, nucleoli, cytoplasmic vacuoles, and mitotic figures that were consistent with myelomatous cells (). Her condition deteriorated and she died 1 week into her hospitalization.


A 63-year-old woman was admitted because of weakness she had been experiencing over the previous 2 weeks. She reported having dropped a glass twice from her hand, which prompted her to present to the emergency department. In the initial workup, the patient had a calcium level of 11.6 mg/dL, hemoglobin level of 8.0 g/dL, and creatinine level of 3.6 mg/dL. The patient had a previous diagnosis of monoclonal gammopathy of undetermined significance based on serum protein electrophoresis.
Serum free light chain analysis revealed an elevated level of lambda light chains (729 mg/L). Serum immunofixation revealed abnormal IgG and lambda light chain bands. Chromosomal analysis revealed monosomy 13, and FISH analysis revealed an FGFR3/IgH fusion, t(4;14). Both of these genetic abnormalities were also seen in Case 1. On the basis of findings in a review article by Mikhael et al. [], this patient's cytogenetic signature placed her in the intermediate risk category with a median overall survival of 4–5 years.
The patient was subsequently started on bortezomib at a dose of 1.3 mg/m2 on days 1, 4, 8, and 11; lenalidomide at a dose of 25 mg once daily for 2 weeks on and 1 week off; and dexamethasone at a dose of 40 mg once weekly. She was also started on monthly infusions of pamidronate at a dose of 60 mg.
Two months later, the patient was readmitted with progressive shortness of breath and fatigue without fevers or chills. Chest plain radiography performed on admission revealed new bilateral pleural effusions, and chest CT follow-up showed an apical pleural-based mass consistent with widespread myeloma. A therapeutic and diagnostic thoracentesis was performed. Fluid cytology revealed the presence of malignant atypical plasma cells, which was consistent with the involvement of plasma cell myeloma.
The patient continued to have recurrent left pleural effusions, for which a tunneled left pleural drainage catheter was placed. She was discharged and continued on the initial treatment plan. She received 8 cycles of this chemotherapy regimen.
The patient then developed a new paraspinal plasmacytoma confirmed by biopsy examination. Because of this progression, we elected to restart the patient on lenalidomide at a dose of 25 mg daily, with dexamethasone at a dose of 40 mg weekly; in addition, she was started on carfilzomib at a dose of 20 mg/m2 on days 1, 2, 8, 9, 15, and 16. To date, the patient has tolerated 2 cycles of carfilzomib without any symptomatic decline.


A 46-year-old female patient reported to the Department of Oral and Maxillofacial Surgery, Postgraduate Institute of Dental Sciences, Rohtak, Haryana with the complaints of pain, slight swelling on the left side of mouth floor and discomfort during swallowing and limitation in mouth opening. Patient history revealed that a month earlier she had undergone an unsuccessful surgical procedure under local anesthesia performed by a general practitioner for removal of an impacted third molar on the left side of the mandible. The tooth fractured during extraction. The procedure described by the patient as being difficult and complicated. On clinical examination, the root was not palpated on the posterior region of the mouth floor and submandibular region extraorally. After the history and careful assessment of the socket, the patient was advised panoramic radiography. Panoramic radiograph showed the presence of a radiopaque mass that is similar to the appearance of the third molar tooth root. Two-dimensional radiographs were inadequate in this case. For detailed radiographic examination, computed tomography (CT) scans were taken by spiral technique and axial sections were obtained . Images were reconstructed to form sagittal and coronal sections and examined. CT examination demonstrated the presence of a high-density area located in the left submandibular region demonstrating the position of root fragment. Careful evaluation of the CT and orthopantomography (OPG) revealed the position of displaced root in submandibular space . After routine blood investigations and preanesthetic check-up, it was planned to retrieve the tooth from submandibular space via extraoral submandibular approach under local anesthesia with conscious sedation.
The surgical site was exposed carefully with layer-wise dissection. The dislodged root was started locating using blunt dissection with small artery forceps with extreme care because there are increased chances of root displacement into pharyngeal spaces further. The dislodged root was not directly visible. As 1 month had been already passed, we were suspecting some fibrosed or infected tissue mass must be enclosing the root segment. Considering this fibrosed tissue the displaced root segment, it was grasped with Ellis forcep and there was instant ooze of pus in that area, which further confirmed the presence of root fragment there only. Care must have to be taken because this pus could have been progressed into submandibular space infection and further progressing to pharyngeal spaces or may be Ludwig's Angina if not managed.[] The fibrosed tissue was also dissected carefully. Dislodged root was grasped with artery forcep and retrieved from the fibrosed tissue and pus was wiped with gauze piece and the area cleaned with normal saline and metronidazole solution.
The surgical site was sutured layer wise. The patient was prescribed oral antibiotics for 1 week. The postoperative OPG confirmed the retrieval of the displaced root from submandibular space. Postoperative course was uneventful and the patient was asymptomatic at the follow-up visit 3 months later. Written consent was obtained from the patient for case presentation.


A 26-year-old female reported to the Department of Oral and Maxillofacial surgery, Postgraduate Institute of Dental Sciences, Rohtak, Haryana with a chief complaint of pain on left side of posterior jaw region with a history of extraction of left mandibular third molar about 2 years back by some practitioner. On clinical examination, there was tender on percussion in the second molar. OPG revealed the vertically impacted Class III position C left mandibular third molar []. Cone-beam computerized tomography was further advised to elaborate the exact location and position of the tooth which further revealed fractured lingual plate and displacement of crown part of the third molar at the level of apex of roots of the second molar and apex of roots of the third molar almost at the level of lower border of angle of mandible []. On the basis of history provided by patient and radiographic investigations, it was anticipated that the operating practitioner had accidentally pushed the tooth into the lingual pouch and the even patient was not explained of the actual situation. So when the patient reported with pain after 2 years of the incidence, she was planned for intra-oral extraction and retrieval of the tooth from the lingual pouch under local anesthesia, as she refused of any extra oral procedure.
After explaining the patient about the perioperative complications related with retrieval via intraoral surgical approach, intra-oral Vazirani-Akinosi nerve block was given with 2% lignocaine along with the local infiltration in the surrounding tissues. Modified ward's incision was planned for exposure of surgical site.[] Moreover, subperiosteal flap was reflected carefully to prevent damage to the lingual nerve. Envelope flap was raised with utmost care on the lingual side from the second premolar to anterior border of ramus region, protecting the lingual nerve from damage by careful retraction of lingual soft tissue. Overlying bone was removed using round bur to expose the displaced crown portion of the mandibular third molar on the left side of the mandible. After removing the overlying bone in third molar region adjacent to second molar, the crown of dislodged tooth was observed below the mylohyoid muscle. Fibers of mylohyoid muscles were stripped off with very care to prevent further displacement into spaces. Crown part of the third molar was exposed with the help of Howarth elevator and with extreme care of not displacing into further spaces. The tooth was luxated and was taken out with the help of the help of long artery forcep. After observation and irrigating the surgical site, silk suturing was done for the closure of the surgical site and the patient was discharged after 1 h. The patient was advised oral antibiotics for 1 week. Follow-up after 1 week revealed lingual nerve paraesthesia. The postoperative course was uneventful and the symptoms of lingual paraesthesia completely resolved after 3 months follow-up.


A 60-year-old female presented with dyspnea since 2 days duration. She is also a k/c/o hypertension. On examination, saturation was 60% and there was hypotension. Electrocardiogram (ECG) showed sinus tachycardia, right axis deviation, and right bundle branch block. Routine investigations were normal with erythrocyte sedimentation rate (ESR) −90 mm 1st h Westergren. D-dimer was elevated (10 mg/L). Venous Doppler revealed was normal. Two-dimensional (2D) echocardiography revealed dilated right atrium/right ventricular (RA/RV), severe Tricuspid Regurgitation (TR) with pulmonary artery systolic pressure of 70 mmHg, and clot in RV apex and right pulmonary artery (RPA) [Figure and ]. The patient was subjected to surgical embolectomy with RV and RPA clot extraction [Figures , and ]. The patient had prompt recovery on follow-up.
A 65-five-year-old male patient presented with acute onset of dyspnea on the 15th postoperative day for traumatic rupture of urinary bladder. He is a k/c/o hypertension with chronic obstructive pulmonary disease. On examination, saturation was 50% and hypotensive. ECG showed sinus tachycardia, nonspecific ST-T changes. Routine investigation revealed hemoglobin of 12 g%, ESR - 70 mm 1st h Westergren. D-dimer was elevated (12 mg/L). 2D echocardiography revealed dilatation of RA, RV, RPA ostium, and RA fuzzy hypoechoic lesion []. Computed tomography pulmonary angiogram revealed pulmonary thrombus in proximal RPA and normal main pulmonary artery []. In view of recent surgery for traumatic rupture of urinary bladder and clot in RA, thrombolysis was not considered, and the patient was subjected to surgical embolectomy []. The patient had prompt recovery on follow-up.


A 78-year-old right-handed lady was referred to elective cardiac surgery department for coronary artery bypass graft (CABG) surgery. She was hospitalized for conducting the pre-operation investigations. On the second day of admission, she developed sudden onset weakness of left upper and lower limbs and dropping of left side of the face. She has had a past history of hypertension, which was controlled by taking 50 mg atenolol twice a day. She has had angina pectoris but not any history of myocardial infarction. According to her coronary angiography, she was candidate for CABG surgery due to coronary artery stenosis.
The vital signs at the onset of left side hemiparesis included pulse rate of 74/min with regular rhythm, respiratory rate of 16/min, blood pressure of 160/100 mm Hg and normal body temperature. Her baseline electrocardiogram showed evidences of left ventricular hypertrophy (LVH) and there was no evidence of acute cardiac ischemia.
Axial brain computed tomography (CT) scan without contrast, which has been done after 30 minutes of hemiparesis, showed no evidence of hemorrhage, no new parenchymal hypodensity and no dense clot sign. Although, the brain CT scan showed an old stroke in left hemisphere which was not compatible with the symptoms of the patient. Due to acute left hemiparesis and no evidence of hemorrhage on brain CT scan, the diagnosis of ischemic stroke with unclear mechanism was made. The National Institutes of Health Stroke Scale (NIHSS) was 10 out of 42, composed of 2 score for partial paralysis of lower face, 3 score for left arm motor weakness, 3 score for left leg motor weakness, 1 score for sensory disturbances and 1 score for language problem. Next decision was to administer the intravenous thrombolytic. Intravenous rTPA was started after 120 minutes of the event onset. The bolus dosage of rTPA was 8 mg, followed by infusion of 58 mg in the next 60 minutes.
Approximately three hours later, the patient complained of chest pain and palpitation. The immediate electrocardiogram (ECG) showed ST-segment elevations in the inferior leads (II, III, aVF), and ST-segment depressions in the anterolateral leads (I, aVL) (). The patient was emergently transferred to the cardiac catheterization laboratory for rescue percutaneous coronary intervention (PCI). On angiography, the occlusion of right coronary artery was detected. Thrombectomy via an aspiration catheter was performed and normal coronary blood flow was restored. Then PCI was conducted on right coronary artery and posterior descending artery bifurcation with two bare metal stents. After revascularization, the patient’s heart rhythm returned to normal sinus and hypotension was resolved. The brain CT scan was repeated and showed a new hypodensity in right parietal lobe. Brain MRI with diffusion-weighted sequence (DW) revealed a watershed ischemic infarction between anterior cerebral artery (ACA)-multiple correspondence analysis (MCA) and MCA-principal component analysis (PCA) territories in right side, which was hyposignal in equivalent Apparent Diffusion Coefficient (ADC) sequence that means an acute stroke occurred (). The echocardiography revealed a left-ventricular ejection fraction of 50% with inferior hypokinesia and without evidence of intracardiac thrombus or intracardiac right-to-left shunt.


A 17-year-old adolescent girl referred to the emergency room with the chief complaint of right lower quadrant (RLQ) pain. In physical examination RLQ tenderness was detected. She was a healthy young lady with no other abnormality and physical examination was completely unremarkable, i.e. heart rate, respiratory rate and temperature were all normal and blood pressure was 125/85.
Laboratory findings were as follows: white blood cell count: 13,400/mL, platelet count: 262,000/mL, and hemoglobin: 14.4 g/L. Prothrombin time was also normal. Urine analysis was unremarkable. Abdominopelvic ultrasonography was also within normal limit.
Observing the patient for 2 hours showed clinical findings highly in favor of acute appendicitis, i.e. rebound tenderness, pain on percussion, rigidity, guarding, and RLQ tenderness were present. Also there was tenderness on palpation in the RLQ over the McBurney point, so the patient was operated and appendectomy has been performed for her.
After surgery, she had an uneventful postoperative period and discharged in 48 hours.
The removed appendix has been sent to the pathology department. Gross examination showed small brownish discoloration with congestion in the wall of appendix, otherwise it was completely normal looking (). Pathologic sections showed small capillary hemangioma, under the appendiceal mucosa and between the layers of muscle in the appendiceal wall ().
Abdominopelvic sonography and computed tomography (CT) scan after the operation were completely normal. Chest and brain CT scan were also normal. The patient was reexamined after the diagnosis of appendiceal hemangioma for the possibility of other hemangiomas, i.e. in the skin and liver or gastrointestinal tract, however no hemangioma was found in this patient.
Now, after 6 months, she is doing well and completely symptom-free.


An 81-year-old, female patient had a tumor in the left pre-auricular region, with 3
months of evolution. Upon physical examination, the tumor was 2.5 cm in diameter,
well-delimited, with an ulcerated center exhibiting yellowish exudates and a hematic
crust (). No lymph nodes were detected
in the physical exam. Head and neck computer tomography detected a lesion in the
skin that reached the parotid parenchyma (). Surgical excision was performed with cutaneous margins of 5mm, in
addition to a parotidectomy and lymphadenectomy of the level II cervical nodes
(). Histopathology revealed SCC
with margins free and a tumor of 0.5 cm in the intraparotid nodes
(, and ). Level II lymph nodes were
tumor-free. There was no perineural invasion. Thus, the patient was classed as P1
N0, following the O'Brien classification, according to which "P" corresponds to
"parotid involvement" and "N" to "Neck disease".
As evolution, the patient presented a temporary, peripheral, facial
palsy on her left side for two months. She has been kept in follow-up, and has
completely recovered movement. Furthermore, she refused to undergo radiotherapy and
did not show any metastatic involvement three-year post-surgery.


A 49-year-old female who was a known smoker and on estrogen supplements presented to the emergency department with acute chronic shortness of breath ongoing for the past 6 months. Her shortness of breath was associated with brief episodes of pleuritic chest pain for the past 2 weeks. She also had three long airplane rides for the past 2 weeks. She had no known prior thromboembolic disease. She denied cough, fever, abdominal pain, nausea, or vomiting. She had a history of robotic supracervical hysterectomy, bilateral salpingectomy, and left oophorectomy for menometrorrhagia and left ovarian cyst. The patient had a positive family history of lung cancer in her mother and brother.
Her vital signs were: BP 152/106, pulse rate 113 BPM, afebrile and SpO2 of 97% on 3 L/min Oxygen via nasal canula with a respiratory rate of 19/min. Her BMI was 28.31 kg/m2. On examination, she was in mild respiratory distress, with normal cardio-respiratory findings. She had left leg swelling with pedal edema.
Her initial work-up, including complete blood count (CBC) and basic metabolic profile (BMP), was normal. EKG showed sinus tachycardia, Troponin I was 0.02 ng/ml, and chest X-ray showed an ill-defined nodular opacity in the right mid-lung. Her brain natriuretic peptide (BNP) was elevated at 308 pg/ml. The patient was started on unfractionated heparin (UHF) infusion, with pulmonary embolism suspected.
CT pulmonary angiography showed sub-segmental pulmonary embolus in the right posterior lower lobe pulmonary artery, multiple irregular non-calcified lung nodules suspicious for metastatic neoplasm, and a filling defect within the right ventricle representing either thrombus or an infiltrating mass. The duplex ultrasound of lower extremities venous system showed clots in both popliteal veins below the level of the knees. An echocardiogram revealed normal left ventricle function with ejection fraction of 50%, hypokinetic right ventricle with a thrombus or mass in the right ventricle extending to the outflow tract, and moderate tricuspid regurgitation with right ventricular systolic pressure (RVSP) of 51 mmHg. Right atrium was dilated and also showed small loculated pericardial effusion at right ventricle apex (A–1C).
Cardiac MRI findings were most consistent with a combination of tumor and thrombus within the right ventricle (D–1F). Full four-chamber fast imaging employing steady-state acquisition (FIESTA) sequence demonstrated a probable mobile thrombus extending to the pulmonary outflow tract to the level of the pulmonic valve. The PET-CT findings showed hypermetabolic activity throughout the right ventricle and to a lesser extent in the right atrium, with minimal, uptake in the left ventricle. However, there appeared to be a more focal uptake in the sub-valvular region and near the pulmonary outflow tract, in the areas of concern raised on the MRI (A–2B). The findings also revealed enlarged and hypermetabolic lymph nodes almost diffusely throughout the retroperitoneum and bilateral inguinal regions (C). The possibility of right heart strain with concomitant malignant involvement of the myocardium was also considered.
A US-guided biopsy of a right inguinal node was conducted preliminarily to look for any malignancy. Histopathology of lymph node showed squamous cell carcinoma. Oncology was consulted. She was scheduled for resection of right ventricular mass. She became acutely hypotensive and hypoxic, developed pulseless electrical activity (PEA), and did not respond to resuscitation. She was pronounced dead on day six of hospitalization. On autopsy, sectioning the heart revealed a tan mass in the right ventricle measuring 8×4×2.5 cm. The mass occupied nearly the entire rigth ventricle, invading the ventricular wall and involved the tricuspid valve with the right ventricular outflow tract; histopathology revealed metastatic poorly differentiated invasive squamous cell carcinoma, most likely originating from the uterine cervix (A–3B). Tumor in the cervix measured 3 cm in greatest dimension.


A 54-year-old woman with a 20-year history of hypoglycemic symptoms was referred to Seoul National University Hospital. Although she often fainted from hypoglycemia after light exercise or fasting, she had no symptoms before breakfast or at dawn (blood glucose level, 50–60 mg/dL) except for chronic fatigue and intermittent headache. Symptoms resolved spontaneously without eating. She had no relevant medical history or family history of diabetes. Physical examination was normal.
Blood tests at a previous hospital showed a blood glucose concentration after a 12-hour fast of 42 mg/dL (reference range, 70–110 mg/dL), an insulin concentration of 4.0 µIU/mL (reference range, 2–25 µIU/mL), a proinsulin concentration of 3.2 pmol/L (reference range, 6.7–26.5 pmol/L) and a C-peptide concentration of 1.85 ng/mL (reference range, 0.8–4.0 ng/mL). Her anti-insulin autoantibody concentration was 5.7% (reference range, 0%–7%) and her antiglutamic acid decarboxylase II antibody concentration was 0.46 units/mL (reference range, <0.9 units/mL). Her symptoms of hypoglycemia resolved after administration of dextrose.
Upon transfer to our institute, a 72-hour fasting test was attempted but had to be stopped after 6 hours because she experienced symptoms of hypoglycemia. Her blood glucose concentration was 35 mg/dL, her insulin concentration was 15.5 µIU/mL, her C-peptide concentration was 2.6 ng/mL, and her anti-insulin autoantibody concentration was 4.8%.
Pancreatobiliary-protocol CT scanning, MRI, and endoscopic ultrasonography showed no focal lesions in her pancreas (). Selective intra-arterial calcium stimulation with hepatic vein sampling (SAVS) showed different results in our hospital compared to those obtained in the previous hospital (). At the previous hospital, insulin concentration was higher in the splenic artery (SA) than in the superior mesenteric artery (SMA) and gastroduodenal artery (GDA). At our hospital, insulin concentration was higher in the SMA than in the SA and GDA. These results suggested that suspicious lesions would be located in areas supplied by the SMA or SA, that is, in the body or tail of the pancreas.
68Gallium-DOTA-D-Phe1-Tyr3-octreotide (DOTATOC) PET scanning showed increased DOTATOC uptake in the pancreas head area (), while 111indium-pentetreotide diethylene triamine pentaacetic acid octreotide (DTPAOC) scanning showed mildly increased octreotide uptake in the head of the pancreas ().
Although many attempts were made to localize the lesion, results were not in agreement with each other. No mass could be palpated during surgery by bimanual palpation. Intraoperative Ultrasound (US) failed to show a definite mass-like lesion in the pancreas, although subtle echoic changes were observed in the pancreas head. Based on the results of preoperative imaging, the surgeon decided to perform pylorus-preserving pancreatoduodenectomy.
Pathologic examination of the resected specimen showed hyperplasia of the ductulo-insular complex in the focal area of the pancreas. Nuclear hyperchromasia and enlargement of β-cells were also found in that focal area, but there was no evidence of localized aggregation ().
Following the operation, the patient no longer experienced symptoms of hypoglycemia and her blood glucose level was increased to euglycemic levels.


Forty two year old male chronic alcoholic, smoker and marijuana addict presented with history of diffuse abdominal pain with profuse vomiting followed by oliguria. He was treated with intravenous fluids and diuretics in a primary health centre near Nagpur. As he developed edema feet, puffiness of face, breathlessness and hemoptysis he was transferred to our tertiary care hospital. There was no history of fever, joint pains, rash, jaundice or bleeding from other sites. He did not give history of diabetes, hypertension or analgesic intake. The patient under observation, then developed complete anuria.
On admission, examination revealed medium frame, poorly nourished patient with pallor and no icterus. Pulse rate 100/min, regular, blood pressure 110/90 mmHg, respiratory rate 24/min. Jugular pulse not raised, mild edema feet. Respiratory system examination revealed bilateral basal crepitations. Rest of the systemic examination was unremarkable. Investigations revealed hemoglobin-11.4 gm/dl with total white blood cell count-9600/cumm and platelet count-80000/cumm. Urine routine showed protein 2+ with 20-25 red blood cells and 70-80 white blood cells per high power field. Renal chemistry revealed blood urea nitrogen-160 mg/dl, serum creatinine-16.8 mg/dl, serum sodium-113 mEq/L, serum Potassium-3.3 mEq/L, total proteins-6.6 g/dl with albumin 3.4 g/dl, AST/ALT-56/42 IU/L, serum bilirubin-1.1 mg/dl, serum uric acid-11.6 mg, serum calcium-8 mg/dl and serum phosphate-5.5 mg/dl. A 24 hours urine protein quantification was 300 mg. His Antinuclear antibody was negative and C3, C4 levels were normal. Ultrasonography of the abdomen showed normal size kidney with no dilatation of pelvi-calyceal system. As patient had hemoptysis and acute kidney injury there was a strong suspicion of pulmonary renal syndrome. However his IgG anti-glomerular basement membrane (GBM) antibody was 1.8 U/ml (Negative <12 U/ml). A plain computerized tomography (CT) of the chest showed patchy perihilar ground glass opacities with peribronchial cuffing, segmental atelectasis of bilateral lower lobes with bilateral pleural effusion. Persistent enquiry as regards a possible toxic etiology for his acute onset complete anuria revealed he had consumed the entire bile from a raw fish gall bladder (rohu or Labeo rohita) a day prior to the onset of symptoms as a cure for his general debility.
In view of his pulmonary edema and deteriorating renal function he was dialysed once on admission after which there was a gradual increase in urine output over 6 days. He improved symptomatically with a decrease in serum creatinine from 16.8 mg/dl to 10 mg/dl on day 5 to 4.8 mg/dl on day 15. He was eventually discharged after 18 days of in-hospital treatment with serum creatinine of 2.5 mg/dl. Subsequent follow-up after 15 days showed serum creatinine was 1.08 mg/dl. The patient had complete recovery.


Our patient was an 8-month-old male child of Indian origin and the first issue of a nonconsanguineous marriage. He presented to our center with the complaints of cough, cold, progressively increasing breathlessness, and refusal to feed over the past 3 days. Past history was elicited that the child was a full-term baby weighing 2.4 kg. His important clinical course is summarized in . On presentation to us, he had tachycardia (160 beats per minute), tachypnea (64 breaths per minute), capillary refill time of 3 s, and blood pressure of 76/60 mmHg in the right arm supine position. The child had increased work of breathing, as evidenced by the subcostal and intercostal retractions. Cardiac examination revealed a pansystolic murmur (grade III), in the third and fourth intercostal spaces. Auscultation of both the lung fields revealed bilateral crepitations with equal air entry bilaterally. The liver was not palpable. His weight, length, and head circumference were below the third percentile for his age (weight 3.5 kg, length 61 cm, head circumference 37 cm). A closer look, however, revealed some alerting dysmorphic features in the child. He had narrow and upslanting palpebral fissures, epicanthal folds, and prominent ears []. He also had retrognathia and an abnormal squared nasal root.
Q1: Name some hereditary and nonhereditary conditions in which the facial dysmorphisms associated with the underlying heart disease can give a clue to the etiology of the condition.
Ans.: elaborates the conditions in which facial dysmorphisms associated with underlying heart disease can give a clue to the etiology of the condition.[]
Case details (continued): In view of the association of conotruncal cardiac anomaly, hypocalcemia with hypoparathyroidism [] in the infantile period, and typical dysmorphic facies, we were prompted to suspect DiGeorge syndrome (DGS).
Q2: What is DiGeorge syndrome?
Ans.: DGS is a 22q11.2 microdeletion syndrome, associated with the classic triad of conotruncal cardiac anomalies, hypoplastic thymus (resulting in immunodeficiencies), and hypoplasia of the parathyroid glands (resulting in hypoparathyroidism and hypocalcemia).[] The other synonyms for DGS are 22q11.2 deletion syndrome (preferred terminology), velocardiofacial syndrome, conotruncal anomaly face syndrome, Sedlackova syndrome, and Cayler cardiofacial syndrome.[] In less than 1% of all patients with DGS, there is complete athymia, resulting in severe combined immunodeficiency (SCID).[] This is called “complete DGS;” the remaining 99% are “partial” DGS, having some thymic function preserved.[] In our patient, repeated blood investigations failed to show lymphopenia []. Detailed immunological tests could not be carried out in our patient. With a worldwide prevalence of between 1/2000 and 1/4000 live births, DGS is the most common microdeletion syndrome.[] The actual prevalence may be higher due to high clinical expressivity, accounting for underrecognition.[]
Q3: How is DiGeorge syndrome caused?
Ans.: DGS is caused due to the deletion of the genes in the DiGeorge chromosomal region (DGCR) on chromosome 22q11.2, secondary to a nonallelic meiotic recombination during spermatogenesis or oogenesis.[] A great percentage (93%) of the probands have a de novo deletion of 22q11.2, while some (7%) inherit the 22q11.2 deletion from a parent in an autosomal dominant fashion.[] Rarely, less than 1% of the individuals with DGS have chromosomal rearrangements, such as a translocation between chromosome 22 and another autosome, involving 22q11.2.[]
Q4: What are the clinical features of DiGeorge syndrome?
Ans.: The clinical features of DGS [], are exceedingly variable, with over 190 features described in the literature, involving almost every organ system — [] thus underlining the need for sensitization among physicians and surgeons from all specialties. Of note, no phenotype occurs in 100% of the patients, as the penetrance of each clinical feature is diverse.[] Thus, one should be wary of excluding differential of DGS solely on the basis of absence of a particular feature.[] The presence of congenital heart disease (CHD; especially conotruncal anomalies), neonatal hypocalcemia (with hypoparathyroidism), and palatal defects can usually be picked up in the neonatal period, and should serve as red flags for early diagnosis.[] Authorities in this subject recommend that, given the high frequency of DGS among individuals with conotruncal anomalies, newborns with these heart anomalies should be routinely screened with fluorescence in situ hybridization (FISH) for 22q11.2 deletion, once other causes (Down syndrome, trisomy 13) have been ruled out.[] Other pointers for this condition, such as dysmorphisms, intellectual disability, and psychiatric disorders may appear only years later, often delaying the diagnosis.[] An emerging area of great interest is the high predilection of psychotic disorders (including schizophrenia and bipolar disorders) in adolescents and adults with DGS (25 times higher than the general population).[] Other than serving as a reminder to psychiatrists, this also underlines that pediatricians and geneticists dealing with DGS/suspected DGS should diligently excavate the psychiatric history of the pedigree in detail, along with the other relevant particulars.
Case details (continued): In view of suspected DGS, FISH was performed using TUPLE1 probes on 200 interphase nuclei and 7 metaphases of the cultured blood. All the cells analyzed showed a heterozygous deletion in the 22q11.2 region [Figures and ]. This clinched the diagnosis of DGS in our patient.
Q5: What is the diagnostic modality for DiGeorge syndrome?
Ans.: The most regularly and widely used diagnostic test for detecting the 22q11.2 deletion is FISH using probes for the commonly deleted region.[] It can pick up around 95% of all deletions causing DGS.[] However, around 5% of the cases may require more sophisticated and costlier methods such as multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (aCGH) to detect the underlying genetic aberration.[] The presence of a CHD in association with one or more of the following should serve as an important red flag for considering an underlying chromosomal imbalance as the possible genetic etiology: growth failure, intellectual disability, other malformations affecting a second organ, multiple anomalies, and dysmorphic features.[] In such cases, when the conventional karyotype fails to pick up the underlying genetic condition, an aCGH can lead to increased detection of the underlying causal chromosomal imbalance.[] The major advantage of this aCGH technique is its increased resolution, which surpasses that of conventional karyotyping by at least fivefold.[] In an excellent study by Breckpot et al., 150 children with an underlying CHD and one or more of the red flags mentioned above were subjected to aCGH, after a genetic diagnosis could not be reached despite a conventional karyotype and ruling out well-defined genetic disorders. Of these 150 children, 24 (17.3%) were detected as having an underlying copy number variation (CNV), that is, a deletion or duplication, as responsible for their syndromic CHD, as detected by aCGH.[] Some examples of the CNVs detected in this study include 1p36 deletion, 1q21.1 duplication, 8q deletion, 14q32 deletion, and 16p13.3 duplication.[] aCGH can also diagnose, among many other CNV conditions, Williams syndrome[] and some cases of CHARGE syndrome.[]
Case details (continued): On admission in our center, the child had leukocytosis (total leukocyte count = 32 × 109/L) and radiological evidence of bronchopneumonia. His blood cultures were sterile during this stay. He was administered intravenous antibiotics for 11 days. However, the child's condition worsened on day 9, due to congestive cardiac failure precipitated by the infection. In spite of ionotropic support and mechanical ventilation, the child could not be revived and expired on day 11 of hospital stay.
Q6: Does the timely diagnosis of DGS change the management in these patients?
Ans.: Timely diagnosis of this condition can alert the treating physician about the possibility of the associated comorbities known to occur with this disease. This in turn can help to develop a surveillance plan for these patients.[] Acute management in neonates and during infancy is mainly focused on the evaluation and treatment of hypocalcemia and the underlying CHD as in our case.[] Proactive prevention of the secondary complications and a watchful “system-wise” surveillance plan can go a long way in ensuring a healthy life for most of these individuals [].[] Thymic transplantation in those with “complete” DGS, especially if done early, may be beneficial. However, the lack of centers performing thymic transplantation in India and the immunosuppression following the transplant make that a difficult option.[]
Case details (continued): The parents were offered genetic counseling, the main focus being on the future risk of recurrence, as our patient was the first issue.
Q7: What genetic counseling was offered to the parents?
Ans.: Following the detection of 22q11.2 deletion in the proband, it is of vital importance to screen both the parents for the same (using FISH or MLPA) in order to ascertain the origin of the deletion, sporadic or inherited.[] This information can impact the risk of recurrence and thus the genetic counseling offered.[] If either parent is detected with the deletion, then the risk of recurrence in the next pregnancy is 50% irrespective of the sex of the child (autosomal dominant inheritance).[] However, if the parents of an individual with 22q11.2DS have normal studies, the risk of recurrence in the subsequent pregnancy is low, though greater than that of the general population.[] This is due to the possibility of germline or low-level somatic mosaicism in the parents.[] McDonald-McGinn et al. report retrospectively detecting 30 relatives of probands having a deletion in the 22q 11.2 region, following a diagnosis in the proband. Of note, only 32% of the adults and 55% of the children in this case series ever had any major medical problems warranting care.[] Thus, the absence of obvious clinical features should not be a reason to exclude the screening for the 22q11.2 deletion in the parents, if their child has been proven to carry the same. Unfortunately, in our case the parents were unwilling to investigate themselves further. In the scenario of one child having DGS, prenatal testing by FISH or MLPA can be offered in the next pregnancy, using fetal cells obtained by chorionic villus sampling (10-13 weeks of gestation) or amniotic fluid analysis (15-18 weeks of gestation.)[] In pregnancies without any family history of the disorder, the sonographic markers that should prompt one to request for prenatal diagnosis are: CHD (especially conotruncal anomalies) and/or cleft lip and/or cleft palate, congenital diaphragmatic hernia, umbilical or inguinal hernia, tracheoesophageal fistula/esophageal atresia/laryngeal atresia, polydactyly, craniosynostosis, polymicrogyria, and renal anomalies.[]
Q8: What is the long-term prognosis in these patients?
Ans.: The prognosis for patients with DGS depends mainly on whether the DGS is partial or complete and on the severity of the underlying cardiac defect.[] Most children with complete DGS who do not undergo a thymic transplant usually die in infancy.[] In contrast, the overall mortality rate in children with partial DGS is reported to be <10%, most of them due to the underlying heart disease.[] However, if the child with an underlying heart disease has a successful repair, then the prognosis may be much better, the majority of the immunological problems settling with time.[] The endocrinological problems, too, do not tend to be devastating, most of them being treatable.[] Learning disabilities, speech issues, and psychiatric manifestations respond well if remedial and supportive therapy is begun early.[]


A two-and-a-half-year-old first female child, born of a non-consanguineous marriage, was referred with a history of repeated episodes of infections since birth. Recurrent diarrhea and skin boils (culture showed growth of Staphylococcus aureus) were the predominant clinical manifestations, with increased leukocyte count and eosinophilia.
After informed consent 2 ml of blood was collected in Ethylenediaminetetraacetic acid (EDTA). Laboratory evaluation revealed a white blood cell (WBC) count of 11400/mm3 with absolute lymphocyte count of 9690/mm3 and absolute neutrophil count of 1026/mm3. The hemoglobin was 11.7gm/dl and platelet count was 624 × 103/μl.
The lymphocyte subset analysis, using a six color TBNK BD antibody (BD Biosciences, San Diego, CA, USA) showed normal counts of NK-cells and elevated counts of T-cells (CD4, CD8) and B-cells []. The Nitroblue-tetrazolium and Dihydrorhodamine tests were normal. Serum immunoglobulin showed low levels of IgG, IgA, and IgE, and an elevated level of IgM [].
CD154 analysis was normal. Expression of CD40 was absent on the B-cells []. After DNA extraction, polymerase chain reaction (PCR) amplification and the direct DNA sequencing technique were used for detection of mutations in the CD40 gene, using the Big Dye terminator v3.1 cycle sequencing kit (Applied Biosystems, USA), on an automated DNA sequencer, Applied Biosystems 3130xl Genetic Analyzer. This showed a novel deletion of 3bp (AAG) [g.4407_4409delAAG p.Glu107GlyfsX84] in a homozygous state in exon 4, leading to a frame-shift mutation and generation of a stop codon at p.192 in exon 7 []. This mutation was also found in a heterozygous condition in both the parents. The patient was managed using regular intravenous immunoglobulin supplements and prophylactic antibiotics. The parents were counseled regarding prenatal diagnosis for the next pregnancy.


An 80-year-old man presented to our emergency room with multiple episodes of non-bilious vomiting for 4 days and not-passing stool or flatus for 2 days. He also complained of intermittent pain in the upper abdomen, which was not associated with fever, chest pain, melena or diarrhea in the recent past. However, he complained of increased cough and shortness of breath for the last 4 days on the background of a diagnosed chronic obstructive pulmonary disease. There were no similar complaints in the past. On examination, his vital parameters were normal, other than an oxygen saturation of 82% for which oxygen had to be given via face mask. His abdominal examination revealed epigastric fullness with tenderness in the epigastric and right hypochondrium. There was no evidence of peritonitis. Laboratory investigations revealed hypokalemia (3.1 mEq/l) with other parameters being normal. On the chest X-ray obtained, we saw air–fluid levels in the right thoracic cavity (Fig. ). Computed tomography (CT) scan of the abdomen performed demonstrated a right anterior diaphragmatic hernia with stomach as content. (Figs and ) The patient was taken to the operating room, and an upper midline laparotomy was performed. Findings included an ~4 × 3 cm defect to the right of the sternum in the anterior diaphragm (Fig. ), with incarcerated pylorus/antrum of stomach as contents and a grossly distended stomach. Rest of the bowel was normal. The contents were reduced, and the defect closed primarily with 2-0 non-absorbable interrupted mattress sutures (Fig. ). Postoperative period was uneventful, and chest X-ray revealed a corrected defect with reduced contents (Fig. ). The patient was started orally on the first postoperative day and discharged on the sixth postoperative day.


An 83-year-old woman with a history of chronic AS and severe osteoporosis developed paraparesis and voiding difficulty 4 days prior. She had been placed in the lateral decubitus position in a bedridden state in a convalescent hospital due to the progressive paraparesis. She had a severe kyphosis of the thoracolumbar junction. One week before, she had a trivial injury, a snap while she was being lifted up in her bed. After this minor trauma, she developed paraparesis (grades 2-3) 3 days later, so she was transferred to Soonchunhyang University Cheonan Hospital.
Plain radiographs of the thoracolumbar junction showed a hyperextension fracture at T9-10 with ossification of the anterior longitudinal ligament, calcification of the intervertebral discs and complete vertebral fusion (bamboo spine) (). Plain radiographs ware checked on supine position, but her preexisting curvature was not changed at that time. Because folded blankets ware supported on her neck and hip area while nurse held her position. The radiographs also showed severe osteoporotic change (bone mineral density, -4.8). The laboratory findings showed CO2 retention in the arterial blood gas analysis, and she already had a history of asthma. Her creatinine level was elevated (1.9mg/dL), which implied acute renal failure. In the Emergency Department, the emergency physician ordered thoracolumbar 3-dimensional computed tomography (3DCT) (). After the patient was transferred to the CT room, a CT was taken in the supine position without any assistant. Approximately half an hour later, the resident in our neurosurgical department checked on her, and the neurological examination showed a complete paraplegic state. The spine fracture was more aggravated on 3DCT. Magnetic resonance imaging (MRI) could not check for preventing aggravation of curvature and cord injury. She was treated with restrictive immobilization on lateral decubitus because she had severe respiratory problems and her family wanted no further treatment. She was treated conservatively and finally expired 20 days later.


A 22-year-old male patient presented with a complaint of stabbing right upper quadrant (RUQ) abdominal pain for 1 month. He visited several hospitals and underwent imaging studies (rib series X-ray and abdominopelvic computed tomography [CT]) with no specific results found. He was managed conservatively with analgesic medication and physical therapy, however his symptoms had not resolved and were in fact amplified. He denied any medical and trauma history. There were no gastrointestinal symptoms, weight loss, or other systemic symptoms. The physical examination revealed dysesthesia, hypoesthesia, and pain on the RUQ abdomen to the back at the 8–9th thoracic (T) level (). The patient's pain was aggravated when in sitting or lying position, and while sleeping at night. Manual muscle testing showed no muscle weakness, and deep tendon reflexes were normal in both lower extremities.
Regarding the nerve conduction study (NCS), the results showed normal responses in all four extremities, and the needle electromyography (EMG) revealed abnormal spontaneous activities (ASA) in the muscles of right paraspinalis at T8-9 level and rectus abdominis (). Somatosensory evoked potential (SEP) and motor evoked potential (MEP) revealed normal ranged latencies.
A contrast-enhanced magnetic resonance imaging (MRI) of the thoracic spine was performed, and it revealed a well-enhanced lobulated mass along the right paraspinal area with a suspicious mass extending to the right neural foramen of T8-9 (). CT guided fine-needle aspiration cytology from the paraspinal soft-tissue mass was not possible. Subsequently, we referred the patient to the neurosurgery department for open biopsy and mass excision. During surgery, the result of frozen biopsy was malignant tumor. Therefore, extended mass resection was performed with posterolateral spinal fusion at T8-9. The surgical findings recorded in the operation record that the mass was tangled with the right T8 nerve root from the neural foramen. After surgery, the radicular pain was reduced, however the patient still complained of hypoesthesia on the right T8-9 level. He was referred to the oncology department for chemotherapy and radiation therapy.
The histopathological report was consistent with Ewing's sarcoma (ES) (). Proliferation of small, round, uniform cells with scant cytoplasm were observed. Immunohistochemically, the tumor cells were positive for a cluster of differentiation 99 (CD99) and neuron-specific enolase. The result of reverse transcription polymerase chain reaction (RT-PCR) showed that the tumor was positive for EWS-FLI1 fusion transcripts, confirming a chromosomal translocation, t(11;22)(q24;q12). This chromosome abnormality is specific to ES.


A 75-year-old man was referred to our department from the gastroenterology department with a chief complaint of RUQ abdominal pain which had lasted for 2 months. The patient denied any history of trauma, gastrointestinal or pelvic disease, hypertension, or diabetes mellitus (DM).
Before coming to our department, he underwent several diagnostic work-ups, including lumbar spinal MRI, abdominopelvic CT, and blood chemistry tests in several hospitals. However, no specific abnormal findings found were suspected as the cause of the pain. He even underwent surgery to remove a lipoma in his right flank to decrease the pain at another hospital, but following this his flank pain worsened and spread to the RUQ area.
His RUQ pain was aggravated by sitting and standing, but was relieved in the supine position. He denied having any other systemic symptoms. In the physical examination, he felt tenderness in the T8 and T9 spine areas, and complained of a mild sensory deficit with paresthesia at the RUQ abdomen. He also complained of band-like pain in the right T8-9 dermatome (). In all four extremities, motor and sensory functions were intact, and there was no abnormal upper and lower motor neuron sign.
Three-dimensional CT of the thoracic spine revealed an old compression fracture at the T8-T11 level, and stenosis of the right T8-9 intervertebral foramen with a bony spur encroachment (). The peripheral NCS showed normal responses in all four extremities, but the needle EMG revealed ASA in right paraspinalis muscles at the T8-9 level (). There was no ASA at any other level of thoracic paraspinal muscles, intercostalis or rectus abdominis muscles. SEP and MEP revealed normal ranged latencies.
With the final diagnosis of thoracic radiculopathy, conservative management such as analgesic medication, including the nonsteroidal anti-inflammatory drug, gabapentin, and physical therapy with spinal extension exercise were administered. We performed ultrasound-guided intercostal nerve blocks. The pain was reduced within several weeks. These treatments were maintained for 6 months and provided the patient with pain relief.


A 43-year-old man presented with slow progression of back pain, voiding difficulty, and boring pain on both lower extremities during 5 months. His symptoms worsened 5 days prior to his presentation to our hospital. Neurological examination showed 420motor weakness of grade IV in both legs and his anal tone was grade zero. Sensory changes, such as hypesthesia and analgesia were presented below the T9 level. About 14 years ago, he had pain in the left leg and was diagnosed with spinal arteriovenous malformation. At that time, magnetic resonance imaging (MRI) of the thoracolumbar spine revealed a vascular anomaly at the thoracolumbar level, and physicians performed spinal angiography for definite treatment. However, spinal angiography had failed three times in two other hospitals due to vasospasm and paraparesis. He recovered from these symptoms spontaneously, and he had not undergone any treatment thereafter.
MRI in our hospital showed a vascular anomaly with enhancement at the T12, L1, and L2 levels (). Axial images of the L1 level revealed a mass lesion, located on the left side of the intraspinal canal (). We recommended selective spinal angiography, but the patient refused because of his experience, requesting a non-invasive technique for diagnosis and treatment. We planned SRS using the Novalis system (BrainLAB®, Heimstetten, Germany). However, we required an alternative modality to selective spinal angiography for obtaining accurate information on diagnosis, level of the lesion, and follow-up after treatment. Thus, a three-dimensional volumetric sagittal time-resolved imaging of contrast kinetics (TRICKS) abdominal magnetic resonance angiography (MRA) using 1.5T MRI system were performed in quiet respiration (TR/TE/flip=4.2/1.1/45°, FOV 330×330, equivalent slice thickness of 3 mm, matrix 256×160). Contrast medium (15 mL gadolinium) was administrated. The study was post-processed into maximum-intensity projection (MIP) images (). These images showed the SDAVF feeding from the L1 lumbar artery. Magnetic resonance myelography showed a left-sided vascular anomaly (). SRS through the Novalis system (BrainLAB®) was performed. The target, involving the dura margin, was constructed to include the fistula during structural segmentation under spinal computed tomography (CT) images (). The volume of the lesion was 2.533 cc. We used 10 conformal beams and a total irradiation of 18 Gy with three fractions ().
The patient's back pain improved 7 months after the treatment. Three years later, the patient could walk unassisted. But the voiding problem remained.
We checked the three-dimensional sagittal TRICKS abdominal MRA using 1.5T for follow-up 7 months after SRS, and three-dimensional sagittal TRICKS abdominal MRA using 3.0T MRI system (TR/TE/flip=10.0/1.5/30°, FOV 380×380, equivalent slice thickness of 4 mm, matrix 384×160) was performed 3 years after radiosurgery. The size of the spinal lesion was decreased and the flow through the fistula was diminished on the 7-month post-treatment images (). Three years after SRS, the feeding artery for the SDAVF disappeared (), and the sequelae of the previous lesion was presented on follow-up MRI and MRA images ().


A 44-year-old Asian female, gravida 2, para 2, with no significant previous medical history, presented to urologist and complained that she had experienced dyspareunia over the preceding several months. The nature of the pain was a deep pain, which she experienced every time she attempted intercourse. She did not have vaginal discharge. No psychological factors can be found for her painful intercourse. She denied any episodes of gross hematuria, fever, chills, or irritative urinary symptoms. A pelvic bimanual examination was difficult to perform because of the patient's discomfort. No significant findings were detected on physical examination. Urinary tract infection was excluded as results of urinalysis and urine cytology were normal. The results of other laboratory tests including renal function, liver function, complete blood cell count, and coagulation function were also within the normal range.
A pelvic ultrasonography revealed a 6.6 × 5.8 cm2 mass lesion located in the trigone of urinary bladder. The mass lesion was confirmed on contrast-enhanced CT to be an enhanced 7.2 × 6.1 cm2 soft tissue mass in the right paravaginal area. CT scan also revealed a lobulated and enlarged uterus consistent with uterine leiomyoma (Fig. ). There was no evidence of thickening of the urinary bladder wall and locoregional invasion. Flexible office cystoscopy was attempted and revealed a rounded, smooth, submucosal mass arising from the trigone of urinary bladder distorting the medial margin of both ureteric orifices. Double J stents could be passed with ease bilaterally. Retrograde pyelogram demonstrated no filling defects or dilation of the both ureters. The biopsies taken with a transurethral resection (TUR) loop showed a benign proliferation of smooth muscle in a connective tissue stroma suggestive of leiomyoma. After a careful discussion about the 2 options of further treatment, open surgical excision, and repeated TUR, the patient opted to receive open surgical excision. Then, an open local excision of this well-encapsulated tumor was performed, in which a 7.3 × 6.1 × 5.8 cm3 grayish-white tumor was removed (Fig. ) and hysteromyomectomy was also performed at the same time. Histological examination revealed intersecting fascicles of smooth muscle (Figs , ) without any evidence of malignant change and thus diagnosis of leiomyoma was confirmed. The postoperative period was uneventful, and the patient was discharged on postoperative day 10. The urinary catheter was removed after 2 weeks. Over an 8-month follow-up period, the patient made no complaint of dyspareunia and no bladder leiomyoma was detected by pelvic ultrasonography and cystoscopic examinations.


A 19-year-old man who had been well until 4 months previously presented with abdominal discomfort and changing bowel habits. Although his appetite was normal, he had lost 6 kg of weight. The review of systems was entirely negative. There was no history of ingestion of any drugs. On physical examination, no abnormalities were found. Laboratory tests showed mild normochromic normocytic anaemia and an increased CRP of 38 mg/L. The white blood cell count revealed no abnormalities. Serum creatinine was 177 µmol/L [estimated glomerular filtration rate (eGFR), 43 mL/min/1.73 m2], and isolated aseptic leukocyturia was present. A renal biopsy was obtained and revealed granulomatous interstitial nephritis. Chest X-ray and an interferon gamma release assay for tuberculosis were unremarkable. Also, endoscopic biopsies of the terminal ileum and colon were obtained because of the abdominal complaints and an increased faecal calprotectin of 1136 μg/g (reference range, <150 μg/g), after which a diagnosis of Crohn's disease was made. Granulomatous interstitial nephritis was therefore considered an extraintestinal manifestation of Crohn's disease. The patient had been treated with three pulses of methylprednisolone, followed by oral prednisolone 50 mg/day (tapered to 5 mg/day over a 3-month period) and tacrolimus (target level of 5–7 μg/L). Currently, the patient is doing well with no signs of active disease. Renal function improved (serum creatinine, 133 µmol/L; eGFR, 60 mL/min/1.73 m2), while Crohn's disease remitted.


Subsequently, a 22-year-old woman with a history of biopsy-proven Crohn's disease had been treated with mesalamine, mercaptopurine and adalimumab. All drugs were stopped because of remitting disease, after which serum creatinine increased from 101 to 160 µmol/L (eGFR, 37 mL/min/1.73 m2) and isolated aseptic leukocyturia developed. A renal biopsy revealed tubulo-interstitial nephritis without granulomata. Despite high-dose corticosteroids and monthly pulses of 500 mg cyclophosphamide for 6 months, serum creatinine increased to 233 µmol/L (eGFR, 23 mL/min/1.73 m2). Therefore, the patient was referred to our hospital.
At the time of presentation, abdominal discomfort was not present and her defecation was normal. Fatigue was reported, however. On physical examination, no abnormalities were found. Laboratory tests showed mild normochromic normocytic anaemia and an increased CRP of 114 mg/L. The white blood cell count revealed no abnormalities. Aseptic leukocyturia had persisted. Because of refractory disease, another renal biopsy was obtained, which revealed granulomatous interstitial nephritis. Positron emission tomography–computed tomography scanning of the whole body was unremarkable, as was the further workup for drug hypersensitivities, infections and common variable immunodeficiency. Thus, granulomatous interstitial nephritis as an extraintestinal manifestation of Crohn's disease was diagnosed. The patient was treated with three pulses of methylprednisolone followed by oral prednisolone 50 mg/day (tapered over a 3-month period), mycophenolate mofetil (MMF) 2000 mg/day and ciclosporine 200 mg/day. Although her renal function and inflammatory markers initially improved, chronic kidney disease stage 4 (eGFR, 28 mL/min/1.73 m2) developed.


A 47-year-old male patient presented with a left sided neck swelling since last 12 years, insidious in onset, and slowly progressive. In last 2 months, the swelling has suddenly increased in size.
On examination, there was a firm, nodular, well-defined, nontender swelling of approximately 6 cm × 6 cm size, in the left lateral part of the neck. Fine-needle aspiration (FNA) cytology revealed paraganglioma and magnetic resonance imaging (MRI) demonstrated a tumor thought to be a vagal schwannoma with its morphology, and its relation to the surrounding structures [].
During surgery, the tumor was found to be arising from the vagus nerve and adherent to the common carotid artery through the artery was unaffected by the tumor. The tumor was dissected from all its attachments up to pterygoid plates. Complete tumor resection was achieved by removing the involved segment of the vagus nerve. The postoperative course was uneventful.
Pathologic findings showed a solid gray-white tumor with large areas of hemorrhage, necrosis, and cystic changes. The tumor measured 11 cm × 6.5 cm × 3.5 cm.
Microscopic examination showed verocay bodies (Antoni A region), focal admixed hypocellular areas with edematous vascular stroma and haphazardly arranged tumor cells (Antoni B region). Multiple areas revealed a vasoformative tumor composed of numerous, irregular, anastomosing vascular spaces with dissecting pattern and with high mitotic activity, and the presence of atypical mitosis. The vascular channels were lined by pleomorphic, endothelial cells showing large ovoid nuclei, heterogenous chromatin, and prominent nucleoli [].
On immunohistochemistry-spindle cell tumor (nerve sheath tumor) component was positive with S-100 and negative for CD31. Vasoformative tumor areas were positive for CD31 and negative for CD34 and S-100. Ki-67 showed the high proliferation index in vasoformative tumor areas (40–50%) and was only about 1% in nerve sheath tumor areas. The final histopathological diagnosis was angiosarcoma arising in a benign schwannoma [].
In view of high-grade malignancy, whole body positron emission tomography-computed tomography was done, which revealed liver metastasis for which liver biopsy was done, which revealed angiosarcoma. The patient was given postoperative chemotherapy, but the patient died after 6 months of treatment due to distant metastasis.


A 58-year-old man suffered from severe lower back pain, getting worse over the last 4 months, which affected his walking. He was admitted to the Central Clinical Hospital of the Ministry of Interior. He also complained of lack of appetite, weight loss (25 kg in 3 months), constipation, and increased urinary frequency. His previous medical history was irrelevant.
Physical examination revealed cachexia, Eastern Cooperative Oncology Group performance status 3, and a soft mass in the right iliac fossa and left umbilical region. In addition, a nontender tumor was palpable on digital rectal examination. Computed tomography (CT) of the abdomen and pelvis showed atrophic left kidney and normal right seminal vesicle () and detected a large, multicystic mass measuring 125×115×110 mm, growing from rectovesical excavation, compressing the bladder, sigmoid, and rectum (), probably arising from the left vesicle. Multiple bone metastases were present on visualized bones as well.
Laboratory tests showed anemia, thrombocytosis, hypercalcemia, and hematuria. Prostate-specific antigen (PSA) and carcinoembryonic antigen (CEA) levels were normal. CA19-9 was slightly elevated at 52.1 IU/mL (normal range 0–34 IU/mL) and so was CA125 at 36.1 IU/mL (normal range 0–35 IU/mL). Chest X-radiograph disclosed multiple round opacities consistent with metastases. Sigmoidoscopy revealed a slightly narrowed lumen of the sigmoid and rectum, caused by external compression, but otherwise was normal. Ultrasound-guided transrectal biopsy of the tumor was performed. The histopathological evaluation () confirmed moderately differentiated adenocarcinoma of the seminal vesicles.
Owing to the disseminated stage of the disease and the patient’s poor performance status, antiandrogen therapy with flutamide was offered together with supportive care. However, the patient passed away in a few weeks following beginning of the treatment.
Since the patient had died, the consent for publication was signed by the patient’s wife.


An 83-year-old woman presented with a 3-week history of progressive bilateral low back pain on admission. She had associated numbness in the left leg. On neurological examination, the patient presented global motor deficit of 4+/5 in the left inferior extremity, without sensitive deficit. A dorsolumbar magnetic resonance imaging (MRI) was performed, revealing a D12-L1 intramedullary mass, with necrosis and irregular contrast enhancement []. She underwent subtotal surgical resection after lumbar laminectomy. An intramedullary infiltrative lesion inside the piamatter, with thrombotic vessels and necrosis were found. Histopathological examination confirmed that the lesion was a GBS []. After surgery, the patient presented cerebrospinal fluid (CSF) fistula, and a continuous lumbar drainage was placed.
Considering the diagnosis, a craneocervical MRI was performed. An enhancing necrotic mass in the left atrium, with an increase of Cholina value related to N-acetyl aspartate and high concentration of lactate was observed, corresponding to high grade glioma. A third enhancing mass was diagnosed in fourth ventricle []. In cervical spine, an extramedular, intradural C7-D1 enhancing mass was diagnosed as a fourth implant. Two weeks after the surgery, the patient experienced worsening of her neurological and general status and finally died.


A 52-year-old woman presented with a nine month history of generalized lymphadenopathy, skin lesions (multiple crusts all over her body), low fever, weight loss of more than 30 kg, vomiting, abdominal distension, mild dyspnea and a left breast mass (measuring 50 x 10 mm). She denied having any allergies or previous relevant diseases.
She was hospitalized for further investigation. Laboratory testing findings showed negative serology for HIV and viral hepatitis, anemia (hemoglobin 11.0 g/dL), and low serum albumin (2.3 g/dL), mild (prerenal) acute kidney injury, and elevated C-reactive protein (over 8 times the maximum reference value).
Chest radiography was performed and showed mild/moderate bilateral pleural effusions. In addition, the patient underwent a computed tomography (CT) of the neck, chest and abdomen. CT revealed the presence of a breast mass, generalized necrotic lymph node enlargement (cervical, axillary, mediastinal, abdominal and inguinal), mild splenomegaly, pleural effusion and ascites ().
She underwent a thoracocentesis that disclosed the presence of a milky fluid whose analysis showed a triglyceride concentration > 600 mg/dL, with no neoplastic cells. Additionally, paracentesis was performed, and the finding was consistent with chylous ascites, and neoplastic cells were not found.
Biopsies of the breast mass (core biopsy), skin lesions and enlarged inguinal lymph nodes were performed and stained using the Grocott-Gomori methenamine-silver (GGMS) technique, the gold standard to diagnose paracoccidioidomycosis according to guidelines. All of the biopsies revealed the presence of large round yeast cells with multiple narrow-based budding daughter cells, characteristic of Paracoccidioides brasiliensis.
Thereafter, liposomal amphotericin B was prescribed, as well as a high protein and low fat diet (supplemented with medium chain triglycerides). Despite the treatment, her clinical status worsened, with development of severe acute kidney injury that required renal replacement therapy, pneumonia, septic shock, and she subsequently died.


A 17-year-old female patient was admitted to our emergency unit due to a sudden onset nosebleed and headache. Her blood pressure was 170/90 mmHg, and there was no blood pressure difference between upper and lower extremities on her physical examination. However, a systolic murmur was heard on the right side of the umbilicus.
The patient had previously undergone PRBA due to FMD involving the right renal artery 2 years earlier. A relapse of renal artery stenosis was suspected. Renal angiography revealed a normal left renal artery and an 80% stenosis showing characteristics of renal artery (FMD) in the mid part of the right renal artery []. Her consecutive blood pressure measurements indicated grade 1 − 2 hypertension, thus, we considered right renal artery stenting due to a relapse of the disease in the same location. The right renal artery was cannulated with a right 7F guiding catheter. Then, a 4 mm × 12 mm RX Herculink Elite Renal Stent System (Abbott Vascular, USA) was implanted successfully at 8 ATMs after a 0.014-inch floppy guide wire was placed distal to the target lesion []. No residual stenosis was observed with the final injection []. Ambulatory blood pressure measurements after the procedure were completely normal.


We report a case of a 22-year-old male brought to emergency department with a history of sickle injury on the left side of the neck following which the patient developed dyspnoea and aphonia. On examination, the patient was alert, restless and unable to lie supine. Heart rate (HR) was 120/min, blood pressure (BP) 138/84 mmHg, respiratory rate 38/min and saturation (SpO2) 86% on room air. The patient was not able to vocalise, with persistent air leak from the neck wound []. There was no active bleeding and his BP was stable although he had tachycardia. In view of respiratory distress and suspected airway injury, immediate chest and cervical spine X-ray was obtained. Chest X-ray showed gross right-sided pneumothorax and pneumomediastinum, causing collapse of the right lung []. Computerised tomography (CT) revealed large anterior tracheal wall injury with right-sided gross pneumothorax and pneumomediastinum, with no vascular injury []. A right-sided intercostal drain (ICD) was inserted with little improvement in patient's respiratory status. As there was no acute respiratory distress, he was shifted to the operating room (OR) for surgical evaluation and repair without attempting any artificial airway.
In the OR, patient was connected to standard monitors and noted to have HR of 114/min, BP 132/84 mmHg and SpO2 of 88%. Large bore intravenous (IV) cannulae and left radial arterial line were secured. Local examination of the wound in OR revealed an 8 cm × 5 cm obliquely incised wound on the left lower aspect of anterior triangle of the neck about 1.5 cm above clavicle. The sternal head of sternocleidomastoid muscle was partially cut, and tracheal rings were seen through the wound. To assess the location and to rule out intrathoracic tracheal injury, we decided to perform awake fibre-optic bronchoscopic evaluation using a 5 mm diameter adult intubating fibrescope through the open neck wound under local anaesthesia.
The fibre-optic bronchoscope was guided through the open neck wound into distal part of trachea. After assessing the trachea till carina and the bronchi, intrathoracic tracheal injury was ruled out. A 7.5 mm internal diameter, reinforced endotracheal tube (ETT) was advanced over the bronchoscope into the trachea until the tip of the tube was just above the carina and the cuff was inflated []. Placement of the tube was confirmed with capnograph trace and chest auscultation. Right side air entry was diminished and there was a harsh sound coming from the open chest wound site. After confirming the tracheal tube cuff inflation, it was suspected to be arising due to negative pressure generated by the respiratory efforts of the patient with open chest wound on the right side. Anaesthesia was induced with propofol 120 mg, IV; atracurium 30 mg IV was used for neuromuscular blockade. Anaesthesia was maintained with 1.5% isoflurane, in 1:1 air and oxygen with IV morphine bolus of 6 mg for analgesia. Following the institution of positive pressure, ventilation, right lung air entry improved significantly. On surgical assessment, there was a clean cut in the anterior wall at the 3rd and 4th tracheal ring. One stage surgical end to end anastomosis was planned for the tracheal injury, which required an orotracheal intubation. Therefore, direct laryngoscopy was performed and a gum elastic bougie was passed; the tip of the bougie protruded through the proximal cut end of tracheal wound and was guided by the surgeon into distal trachea. The existing ETT was replaced by a cuffed 7.5 mm orotracheal tube over the bougie. Position was again confirmed with bronchoscope and capnogram. A primary repair of the tracheal wound and injured right pleura was done. Rest of the perioperative period was uneventful.