This is a 16-year-old boy with compound heterozygote mutations LDLR c.131G>A and c.2043C>A and a history of HeFH in both parents (LDL-C levels at 271 mg/dL and 387 mg/dL). The patient has carotid plaques occluding 25–30% of the carotid lumina, but with no impairment of perfusion. The patient was diagnosed with HoFH at the age of 9 years with Achilles’ xanthomata and LDL-C levels at 900 mg/dL. LLT with rosuvastatin 20 mg/day, ezetimibe 10 mg/day and weekly apheresis was started, with dietary modifications to reduce fat intake to 15% of total energy. On this regimen, mean interval LDL-C levels reduced to 206 mg/dL.
As the patient got older, issues with schooling meant that there was a desire to extend the LA interval to biweekly. This change was made, and evolocumab 420 mg Q2W was added to the background LLT. However, as a result of the mutation profile of the patient, evolocumab did not work (mean interval LDL-C 329 mg/dL), and the decision was taken to prescribe lomitapide. The patient was commenced on lomitapide at 5 mg/day with escalation to 15 mg/day over 3 months (Fig. ). Apheresis was stopped, lomitapide was increased to 20 mg, rosuvastatin was increased to 40 mg and ezetimibe doses were maintained. LDL-C levels remained at approximately 190 mg/dL for more than 6 months and therefore lomitapide was increased to 30 mg/day and rosuvastatin reduced to 35 mg/day. Figure shows that LDL-C levels continued to rise after commencement of lomitapide, followed by a subsequent marked decrease. There is no direct explanation for this other than the cessation of apheresis.
Mean interval LDL-C levels are now at 34.8 mg/dL (a remarkable 85.7% decrease), with no LA currently ongoing. Early GI issues resolved. There were no other adverse events, other than slightly depressed alkaline phosphatase levels. Alanine aminotransferase briefly increased by more than three times the upper limit of normal (ULN) on two occasions, and reduced to less than three times the ULN without intervention. All other laboratory parameters remain normal and there is no evidence of hepatic steatosis.


This is a 4-year-old girl with a homozygous c.2043C>A mutation who presented at the age of 3 with an LDL-C level of 739 mg/dL. Her father has a severe form of HeFH. At diagnosis, the patient had normal echocardiography; but, by 2016, she had mild aortic thickening and some mild aortic valve regurgitation. There was evidence of a pedunculated atheroma at the aortic arch that had potentially embolised as it was no longer apparent on a later scan. For this reason, the treating physician decided that the patient was a candidate for aggressive LLT, but low body weight meant that LA was not suitable. LDL-C levels were reduced very slightly to 685 mg/dL with atorvastatin 10 mg/day and ezetimibe 10 mg/day, and the decision was taken to intensify LLT with lomitapide. Doses were escalated gradually from 2.5 mg/day in 2.5-mg increments given the young age of the patient and low body weight, and LDL-C levels became reduced. By the time the dose was escalated to 15 mg/day in August 2018 (patient now 5 years old), LDL-C had reached a nadir of 235 mg/dL (Fig. ). There have been no side effects in this patient apart from one episode of a loose stools when pancakes were eaten. No liver pathology is evident on ultrasound. The patient has recently had a significant reduction in triglycerides to 21 mg/dL, and so the levels of fat-soluble vitamins are being checked prior to any further dose increase given the young age of the child.


This is a 14-year-old boy with an extensive family history of HeFH and a brother with HoFH. The boy has a compound heterozygous for the LDLR mutations c.1846-? 2311+?del and c.1895A>T (variant of unknown significance). The boy presented with xanthomas and hypercholesterolemia at 4.8 years of age. High dose (for age) statins and ezetimibe were started (atorvastatin 20–30 mg/day; ezetimibe 10 mg/day). At the age of 8 years, mild aortic regurgitation was evident. Treatment with plasma exchange (PE) was commenced every 15–20 days. Three years later, the patient required composite graft replacement of the aortic valve, aortic root and ascending aorta, with re-implantation of the coronary arteries (Bentall procedure).
At this point, lomitapide was initiated as add-on to the previous treatment regimen, escalating from 5 to 10 mg/day. LDL-C levels decreased to almost 100 mg/dL (Fig. ). Lomitapide dose was increased to 15 mg/day and then briefly escalated to 20 mg, but the patient experienced elevated transaminases, so the dose was reverted with consequent normalization of LFTs. The LA frequency was altered a number of times in this patient (Q2W–Q6W), and was eventually stopped once the patient was on the 15 mg dose of lomitapide. The response to lomitapide was a 66.4% reduction, and apheresis has been discontinued, apart from two emergency sessions when an insurance issue interrupted the lomitapide dosing (Fig. ).


This is a 15-year-old boy with compound heterozygous LDLR c.313+1G>A and a deletion spanning exon 1–6. Both parents have HeFH with no evidence of cardiovascular disease (CVD). The patient was diagnosed at the age of 2 years old as a result of the presence of xanthomas. LDL-C levels were found to be elevated to 982 mg/dL, and diagnosis was confirmed via genetic testing. Asymptomatic aortic insufficiency was evident. Medication was commenced with atorvastatin 40 mg/day plus ezetimibe 10 mg/day. The patient received once-weekly lipoprotein apheresis, but LDL-C levels remained elevated (mean interval LDL-C 197 mg/dL). At the age of 8.5 years, chest pain led to a diagnosis of angina and a coronary bypass operation. LA was intensified to two times per week.
At 13.5 years of age, prior to the initiation of lomitapide, mean interval LDL-C levels were at 85 mg/dL with LA twice weekly, and therefore well below current treatment target. Unlike the other patients in this case series, the treatment plan for this patient was to attempt to maintain the LDL-C levels at target but to reduce the apheresis burden. Lomitapide was commenced at a dose of 5 mg/day and apheresis was decreased to once weekly. After 6 months, the lomitapide dose was intensified to 10 mg/day followed by 15 mg/day and after an additional 5 months, apheresis was reduced to Q2W. Through these modifications, LDL-C levels remained under control (nadir 62 mg/dL) (Fig. ).
No adverse events have been reported for lomitapide, liver enzymes and imaging are normal, and the patient has reported improved quality of life due to less disruption from apheresis sessions resulting in less time away from school, sports and other leisure activities. As a result, the LDL-C target levels have been maintained despite reducing apheresis burden by 75%.


A 15-year-old man visited our hospital for a facial contusion that occurred during a bicycle accident. He was alert and showed no focal neurologic deficits or signs. His brain computed tomography (CT) showed only an AC located at the right high frontal convexity, and no trauma-related lesion was observed (). He recovered well.
Two months later, the patient suffered a mild head trauma during exercise at school, and a severe headache followed. No focal neurologic deficits were observed. His brain magnetic resonance imaging revealed a CSDH at the right convexity with midline shift to the left. The fluid signal intensity of the AC was the same as that of the CSDH (). We performed a burr hole drainage of the CSDH without any manipulation of the AC membrane. The immediate postoperative CT scan showed that much of the hematoma was removed. The size of the AC was decreased, and its fluid density was changed so that it was close to that of the cerebrospinal fluid (). The headache improved immediately after the surgery. His hospital stay was uneventful, and he was discharged 8 days later. A follow-up CT scan, performed 4 months after the surgery, revealed a larger decrease in the size of the AC, and the fluid component changed again, similar to a subacute hematoma (). Three months later, another follow-up CT scan showed that the AC had completely disappeared with full brain expansion ().
This report had been reviewed after gaining the Institutional Review Board approval for the patient consent exemption.


A 6-year-old girl born full term presents with abnormal gait, delayed fine motor skills, delayed speech, multiple absent primary incisor teeth, and difficulty with vertical gaze eye movements. As an infant, she had reportedly met all of her early milestones. Yet, her mother began to notice an abnormal gait when she began walking at the age of 18–21 months.
On physical examination, bilateral central and right lateral maxillary incisor teeth as well as the right central and right lateral mandibular incisor teeth were absent. The mother reported that the primary teeth had never erupted in these locations. The patient had an ataxic gait with characteristic wide base, staggering movements, and difficulty with toe, heel, and tandem walking. She also had dysarthric speech, mild head titubation, and difficulty with upward and downward gaze. There was no family history of others with similar problems.
An MRI of the brain with and without IV contrast was performed using the Signa 1.5T HDxt MRI scanner (GE Healthcare, Chicago, IL). This study demonstrated abnormal hyperintense T2, hyperintense fluid-attenuated inversion recovery (FLAIR), and hypointense T1 signal involving bilateral internal capsules and the white matter of all lobes of both cerebral hemispheres without accompanying cerebral parenchymal atrophy and mild relative T2 hypointense signal within the anterolateral portions of both thalami [-]. These findings were concerning for a diffuse hypomyelinating process. There were no focal areas of restricted diffusion or abnormal enhancement [ and ]. The MRI images also demonstrated moderate cerebellar vermian and mild cerebellar hemispheric atrophy []. Given the clinical presentation of abnormal wide-based gait and delayed eruption of multiple incisor teeth, Pol III-related leukodystrophy was considered in the differential diagnosis.
On genetic testing, she was found to have compound heterozygous mutations in both alleles of the POL3B gene.


A 57 years old male with a past medical history significant for COPD, Hepatitis C, Opioid dependence on methadone maintenance therapy was brought to the emergency department by the emergency medical service personnel after ingesting double the quantity if his usual methadone. Upon initial encounter, the patient was found to be lethargic, unresponsive to pain and having poor respiratory efforts (GCS 6 E1V2M3). He was given intra-nasal naloxone in the field leading to some improvement in his mental status (GCS 13 E3V5M5). He revealed that he had taken twice as much as his usual maintenance dose of methadone (70 mg was ingested, he was on 35 mg daily per the methadone maintenance program). He had been dispensed a two-day dose for the weekend and took both doses simultaneously.
Upon presentation to the Emergency Department (ED) vital signs included, pulse rate 84 beats/min, blood pressure 149/89 mmHg, respiratory rate 9 breaths/min, and SpO2 on 6L nasal cannula 73%. Physical examination showed a pale and lethargic gentleman with shallow respirations not responding to vocal commands or pain (GCS 8 E2V3M3). Pupils were 2mm bilaterally and sluggishly responsive to light bilaterally. Lung auscultation revealed coarse breath sounds on the right hemithorax; cardiac auscultation was unremarkable, and there were no focal neurologic deficits. The patient was oxygenated with a non-rebreather mask, with SpO2 only improving to 82%. An arterial blood gas sample was obtained and since opioid intoxication was evident, reversal with naloxone was attempted.
Initially, IV access was unobtainable because of venous scarring. Due to deteriorating clinical status 2mg naloxone was added to 5ml normal saline and administered using a standard nebulizer mask (the side ports were partially occluded with tape to decrease the escape of nebulized naloxone) while continued attempts to obtain IV access were being made in addition to preparation for endotracheal intubation. The arterial blood gas obtained upon arrival showed a pH of 7.20, pCO2 87 mmHg (baseline of 55 mmHg), PaO2 44 mmHg. After 4 minutes of the nebulization the respiratory rate improved to 22 breaths/min, SpO2 increased to 100% on non-rebreather at 15 L/min and GCS improved to 15. After about 20 minutes of nebulization, the patient started yawning and became more alert, but no other signs of opioid withdrawal were observed. Repeat arterial blood gas showed pH 7.30, pCO2 60 mmHg, and PaO2 72 mmHg; EKG showed a QTc of 530 milliseconds, urine toxicology screen was only positive for methadone, chest X-ray, and other labs were unremarkable. After 50 minutes the SpO2 dropped to 85% and another dose of 2mg naloxone in 5ml of saline was administered via nebulization and the patient responded well. The patient was admitted to the ICU to obtain IV access and monitor for the next 24 hours, once in the ICU a peripherally inserted central catheter (PICC) was placed under ultrasound guidance and the patient was started on a naloxone infusion at a low dose rate (2 mg/hr) without any bolus dose to avoid precipitating acute opioid withdrawal. Within 10 minutes the patient was exhibiting signs of withdrawal and was agitated. Due to concerns for continued withdrawal and pulmonary edema the infusion rate was slowed to 1 mg/hr. After a few hours on (and off) the naloxone infusion, titrated per the RASS scale, the patient was eventually downgraded to the medicine telemetry unit and later discharged from the hospital without any complications.


We describe a case of gradual aggravation of idiopathic GPN due to chronic tonsillitis in a 74-year-old female patient. She has provided informed consent for publication of this case. The patient was diagnosed with idiopathic GPN 8 years ago. Her pain had been controlled well by taking 200 mg doses of ibuprofen irregularly. The usual visual analog scale (VAS) score had been 1–2/10, but the pain began to increase gradually starting 5 months ago and the VAS scores increased to 4–5/10. She began to take 600 mg/day of pregabalin and 1200 mg/day of ibuprofen, but the pain was not alleviated. She complained of pain-induced sleep disturbance and swallowing difficulties and was admitted for pain control as a neurology outpatient. There were no specific results for brain magnetic resonance imaging (MRI) (Fig. A), laboratory tests, and physical examination except increased erythrocyte sedimentation rate. Meanwhile, her medication was increased to 1500 mg/day of gabapentin, 30 mg/day of duloxetine, and 20 mg/day of oxycodone. Nevertheless, her pain was not relieved, and she was referred to the pain clinic for nerve block. We sequentially performed a percutaneous glossopharyngeal nerve block, neurolysis and pulsed radiofrequency neuromodulation of the glossopharyngeal nerve by the peristyloid technique (Fig. B). The effect of the treatment lasted only 2 days. We next planned an intraoral approach,[ but while inspecting the oral cavity we found a mass in her left tonsil. We referred her to the department of the otolaryngology, where she underwent neck computed tomography (CT) (Fig. C) and tonsillar biopsy. Fortunately, the biopsy showed only chronic inflammation and she was treated for chronic tonsillitis with 300 mg/day of cefditoren for 2 weeks. Her pain was alleviated, and in a follow-up neck CT 2 weeks later the chronic inflammation and enlarged lymph nodes were diminished (Fig. D).


A 58-year-old fit gentleman presented in the mid of 2016 with a large RCC extending into IVC to the liver and multiple lung metastases. It was decided at that time not to do any surgical intervention and to treat solely with Sunitinib. Regular radiological follow-up did show a stable disease, and there was no significant side effects related to Sunitinib. In October 2018, follow-up CT showed complete resolution of lung metastases and extensive thrombus in the IVC extending from iliac bifurcation to the liver, as showed in []. Surgery was done doing radical nephrectomy and complete IVC thrombectomy.
The detailed histopathology revealed a tumor of 10-cm maximum diameter, clear cell, with extensive areas of hemorrhage and necrosis, no evidence of lymphovascular invasion and no rhabdoid or sarcomatoid differentiation, negative surgical margins. The IVC thrombus was all formed of necrotic tissues with no active malignancy. Patient was decided to continue on Sutent after the recovery of surgery. One year follow-up showed no tumor recurrence and normal IVC without thrombus ().


A 47-year-old woman presented with a several weeks' history of fever, nonproductive cough, shortness of breath, and audible wheezing. Initial vital signs showed temperature 98.8°F, pulse 82 beats/minute, blood pressure 119/86 mmHg, respiration rate 20 breaths/minute, and oxygen saturation of 92% on room air. Physical examination revealed bilateral rhonchi at the lung bases. The rest of her physical examination was unremarkable. Of note, the patient had been recently discharged after a 10-day admission for community-acquired pneumonia, which was diagnosed based on clinical presentation and findings of bilateral pulmonary infiltrates on chest X-ray. She was treated with intravenous (IV) antibiotics, oral steroids, and nebulized bronchodilators. Now, her shortness of breath had progressed to the point that it was present at rest. The patient had recently quit smoking and moved into a used mobile home that had mold.
Initial blood tests showed an elevated white blood cell count of 17, with notable peripheral eosinophilia of 34%. Chest X-ray and CT chest scan showed bilateral pulmonary infiltrates [ and ]. Blood, urine, and sputum cultures were all negative for growth. Fungal workup was performed with negative Candida antigen, urine/blood histoplasma antigen, serum beta-D-glucan, and serum Aspergillus galactomannan. Immunoglobulin E (IgE) level was normal, and serum Aspergillus antigen testing was negative. The eosinophilia was further investigated, and the ova and parasite screen was negative. In addition, collagen vascular disease workup was negative. CT of the chest, abdomen, and pelvis confirmed the presence of bilateral lung infiltrates and demonstrated no evidence of neoplasm in the abdomen and pelvis []. Treatment for suspected pneumonia with broad-spectrum IV antibiotics was initiated.
With no resolution of symptoms, the patient eventually underwent bronchoscopy. On bronchoscopy, copious mucoid secretions were noted in the airways. Bronchoalveolar lavage and three transbronchial cryobiopsy specimens from the right upper lobe were obtained. Cryobiopsy of the lung showed chronic and acute inflammatory infiltrates with significantly increased eosinophils and focal fibrosis with eosinophilic inflammation on biopsy []. Based on the constellation of peripheral eosinophilia, bilateral infiltrates, and eosinophilic inflammation on cryobiopsy of the lung, a diagnosis of EP was made. The patient was discharged home with oral steroids and counseled on the possibility of the black mold in her home having caused these symptoms. Unfortunately, 2 weeks later, the patient was admitted for profound shortness of breath and hypoxia. CT chest showed worsening of lung infiltrates, and a CT abdomen showed new liver lesions [ and ]. She continued to deteriorate during her hospitalization and required intubation. Despite optimization of ventilator support, antibiotics, and steroids, the patient eventually died before a liver biopsy could be performed. On autopsy, histopathological analysis revealed diffuse eosinophils in all organs. Subsequent immunohistochemistry staining showed positive staining for CD5 and CD30 (T-cell markers) and negative stains for CD20 (B-cell marker) []. These findings were demonstrative of the diagnosis of aggressive diffuse PTCL.


A 59-year-old Japanese woman with hypertension and diabetes mellitus was admitted to our hospital to undergo pelvic surgery. She had a presacral mass that was incidentally detected on CT before cholecystectomy for cholelithiasis, and adenocarcinoma was detected in the mass via endoscopic ultrasound-guided fine needle aspiration through the rectum in a prior hospital. Complete blood count, liver function, basic metabolic panel, and urinalysis were unremarkable. CEA, CA19-9, and CA125 were within their normal ranges.
A pelvic radiograph revealed a scimitar sacrum with a right-sided defect []. Contrast-enhanced CT revealed two presacral masses in the pelvis. The upper mass had cystic and solid components containing subtle calcification, and the second mass was a simple cyst through an enlarged neural foramen []. Pelvic MRI illustrated the upper mass with cystic and solid components with various intensities on T1- and T2-weighted images (T2WI). The other presacral cystic lesion displayed high intensity on T2WI, and it had no mural nodule, which was suggestive of an anterior meningocele []. The patient was diagnosed with a malignant tumor associated with CS preoperatively, and she underwent surgical resection of the presacral mass in the pelvis. The tumor was completely resected, although the lower cystic lesion was accidentally ruptured because of adhesion.
Pathologic examination confirmed that the cystic and solid tumor contained adenocarcinoma and neuroendocrine tumor (NET) components (G2) []. The resected tumor included many cysts covered by stratified columnar epithelium, smooth muscle tissues, and a glomus tumor. Subtle fat tissue was present in the resected tumor, although it was not detected on preoperative MRI. Histologically, the tumor contained several different tissue types, suggesting a teratomatous nature. Most cysts inside the tumor that exhibited varied intensity on MRI included necrotic tissues. Adenocarcinoma was found in the cyst-like structure, and it was not distinguishable from other cysts on preoperative image examinations []. The adenocarcinoma component exhibited ductal and papillary structures, and a diagnosis of moderately differentiated adenocarcinoma was rendered. In the NET component, which was close to the adenocarcinoma lesion, immunohistochemical staining was positive for synaptophysin and chromogranin A. Residual NET tissue was observed along the surgical margins, and postoperative adjuvant radiotherapy (50.4 Gy/28 fr) was administered without adjuvant chemotherapy. After 8 months of follow-up, contrast-enhanced CT and pelvic MRI revealed no tumor recurrence, but genetic testing has not been performed in line with the patient's preference.


A 56-year-old female patient, who is a known case of type 2 DM for last 5 years presented to our outdoor department with complain of generalized ring like, reddish, papular lesion on both upper and lower limb and trunks. Her blood sugar fasting was 160 mg/dl and postprandial was 310 mg/dl and HbA1c 8.5%. She was taking tablet metformin 1 gm and glimepiride 2 mg daily. Her lipid profile and thyroid function test, liver function test (LFT), kidney function test (KFT) were in normal range. Her HIV, HBsAg and hepatitis C antibody test (anti-HCV) were nonreactive. She did not have any drug history or any history of chronic disease. On local examination, the lesions were present over her back, calves and dorsolateral aspects of both legs, these lesions have been depicted in Figures –. The lesions were typically fleshy and expanding outward in a ring-like fashion. Further on skin biopsy from the lesion showed focal collagen degeneration with palisading histiocytes. These findings were suggestive of GA. We admitted her and gave her insulin for faster and better blood sugar control, after 1 week she was discharged on insulin with blood sugar fasting 100 and post prandial 160 mg/dl. After 3 months these lesions had markedly regressed without scarring.


In October 2018, a 64-year-old man presented at the Department of Otolaryngology, Head and Neck Surgery, First Hospital of Jilin University, Changchun, Jilin Province, China with a painless mass below the right ear and complained of peripheral facial paralysis for a month. A physical examination found a 2.0 × 2.0 cm mass, with poor mobility, in the right parotid region. The accompanied peripheral facial paralysis on the right side was classified as House-Brackmann Grade III. Neck ultrasound identified a solid mass in the right parotid gland with enlargement of the lymph nodes in the gland and the right submandibular lymph nodes. Lung computed tomography (CT; ) demonstrated abnormalities in the upper and middle lobes of the right lung and intermediate bronchus, with obstructive pneumonia, as well as enlargement of the right hilar and mediastinal lymph nodes. The patient showed no symptoms of coughing, expectoration or haemoptysis.
The patient insisted on confirming the malignancy of the solid mass in the right parotid gland but refused to undergo preoperative needle biopsy. Intraoperative pathology confirmed a malignant tumour with metastatic potential. Thus, the right parotid gland and facial nerve were resected and selective neck dissection performed. Postoperative histopathological analysis demonstrated small cell carcinoma in the right parotid gland () with involvement of the right neck lymph nodes (one of eight). Bronchoscopy was performed and the pathological results were small cell carcinoma (. Immunohistochemical analysis of the postoperative pathological specimen indicated positive staining for pan-cytokeratin, CD56, chromaffin granule protein A, synapsin (Syn) and thyroid transcription factor-1 (TTF-1) (), partial positive staining of Ki-67 and cytokeratin 7, and negative staining for CD99, cytokeratin 5/6 and common leukocyte antigen (LCA). Immunohistochemical analysis of the bronchoscopy pathological specimen demonstrated positivity of pan-cytokeratin, CD56, Syn, TTF-1, partial positivity of Ki-67, but no staining of P40, cytokeratin 20, cytokeratin 5/6, vimentin and LCA, suggesting possible metastasis of small cell lung cancer to the parotid gland. Positron emission tomography (PET)/CT identified a hypermetabolic lesion in the right upper and middle lobes of lung and intermediate bronchus (), suggesting possible central lung cancer with distal obstruction and inflammation. Multiple lymph nodes were involved, and localized peritoneal thickening with hypermetabolism was observed under the right lobe of the liver, suggesting possible liver metastasis. Although hyperplasia, calcification and a hypermetabolic area were observed in the prostate under PET/CT, analysis of prostate-specific antigen in the serum and magnetic resonance imaging (MRI) showed no lesion.
The patient recovered well after the surgery and was scored 1 on the Eastern Cooperative Oncology Group performance scale. From postoperative day 15, the patient started to undergo six cycles of adjuvant chemotherapy with a combination of cisplatin + etoposide: days 1–3, 75 mg/m2 cisplatin intravenously + 100 mg/m2 etoposide intravenously; day 4, 100 mg/m2 etoposide intravenously; day 5, 50 mg/m2 etoposide intravenously; and the cycle was repeated every 20 days. Supportive therapy was also provided. No complications of the chemotherapy were observed after three cycles, treatment and follow-up are ongoing. Ethical approval was not required for this case report. The patient provided written informed consent for the publication of their data.


Ms. A, a 32-year-old female, presented with 5 years of second person commanding auditory hallucinations, delusion of control, and delusion of persecution. She had a poor response on risperidone 6 mg/day for 2 months, olanzapine 15 mg/day for 2 months, and lurasidone 80 mg/day for 4 months. She had a history of hypothyroidism (on thyroxine 75 μg/day) and seropositive (anti-acetylcholinesterase antibody [anti-AChAb] – 21.42 nmol/L [positive >0.4 nmol/L]) generalized MG of 7-year duration. She had undergone thymectomy for MG, and symptoms were under control on oral mycophenolate mofetil 1500 mg/day and pyridostigmine 270 mg/day.
She was diagnosed as having schizophrenia as per the international classification of diseases. Considering the treatment resistance, she was started on clozapine which was increased up to 500 mg/day and later augmented with risperidone 4 mg/day and then aripiprazole 20 mg/day, but the patient continued to have auditory hallucinations (Scale for the Assessment of Positive Symptoms [SAPS]-22, Scale for the Assessment of Negative Symptoms [SANS]-20, and Auditory Hallucinations Rating Scale[] [AHRS]-34). In view of coexisting MG, noninvasive brain stimulation by inhibiting temporoparietal junction was attempted with transcranial direct current stimulation (10 sessions) and thereafter with repetitive transcranial magnetic stimulation (24 sessions).
As distressing commanding auditory hallucinations persisted despite the above treatments, we considered ECT. A detailed preanesthetic evaluation with bedside pulmonary function testing was conducted to ascertain good pulmonary reserve. Plasma pseudocholinesterase levels and anti-AChAb levels were 11.2 U/ml (normal – 4.65–10.44 U/ml) and 8.8 nmol/L, respectively. This was to ensure remission of MG before administering succinylcholine. During the ECT, precautions were taken to achieve adequate muscle relaxation, and the patient was closely monitored to prevent prolonged apnea. We avoided atropine during ECT to prevent cholinergic crises as the patient was on treatment with physostigmine.
She received nine sessions of modified bifrontal ECT on alternate day, three times a week with a charge of 240 mC (at 1.5 times suprathreshold). Intravenous thiopentone 120 mg and succinylcholine 25 mg were used as anesthetic and muscle relaxing agents, respectively. She showed significant improvement in hallucinations (AHRS-22, SAPS-12, and SANS-20); first five sessions of bimonthly maintenance ECTs were given which reduced to 3 monthly sessions thereafter before stopping ECTs. The patient complained of nausea and dizziness on days of ECT in 7 of the total 17 sessions, which were managed symptomatically. Nausea is one of the common self-limiting side effects following ECT and is probably unrelated to MG[] and possibly secondary to prolonged fasting or anesthetic procedure. It was symptomatically managed with antiemetics. No other adverse events were noted, and over the next 2 months, neurologist reduced physostigmine to 210 mg/day. In follow-up after 14 months of ECT, the patient's MG is in remission and maintains significant improvement with occasional hallucinations and good functional recovery.


A 70-year-old woman presented to emergency with acute abdominal pain on a background of immunocompromised with type II diabetes and previous splenectomy secondary to trauma in 1980 and multiple previous laparotomies for adhesive bowel obstruction. Computed tomography (CT) abdomen raised the concern of a perforated splenic flexure malignancy (). She had laparotomy that showed grossly dilated large bowel with no obvious perforation; a loop colostomy was formed to decompress the large colon. Intravenous Piperacillin/Tazobactam was the initial antibiotic therapy, with vancomycin and fluconazole later added to cover possible micro-perforation. She was admitted to intensive care unit postoperatively due to ongoing shock and high vasopressor and noradrenaline requirement.
Within 14 hours postoperatively, she developed an erythematous patch on her left thigh, and a creatine kinase of 19 000. A bedside finger test was performed which showed dirty dishwater fluid, necrotic fat and lack of bleeding. She was taken to theatre for urgent debridement for suspected NF. Antibiotics were changed to Meropenem, Vancomycin, Lincomycin and Fluconazole. She had extensive debridement of the soft tissue circumferentially on the left thigh, including some muscle. In 10 hours postdebridement, there was a radiological evidence of disease progression with gas in muscle compartments on the lower limb X-rays ( and ), and CT abdomen and lower limbs demonstrating gas throughout the whole left leg and a non-contiguous area in the right gluteal region ( and ). A diagnosis of multi-focal non-contiguous necrotising myositis was made.
Due to her multiple comorbidities and very high mortality risk with low risk of recovery to pre-morbid state, she was palliated in accordance with family wishes. Her swab and tissue microscopy unfortunately did not isolate a pathogen; this is likely due to early commencement of broad-spectrum antibiotics at admission.


A 54-year-old Thai female presented with a group of multiple spiky spicules along her face, jawline, and neck for 1 month. No pain or pruritus accompanied the lesions. The spicules were easily removed by scratching or rubbing without bleeding, then reappeared within a few weeks. She denied previous illness before the development of the skin lesion. She had no underlying disease and was not taking any supplement or medication.
Physical examination revealed multiple discrete tiny filiform hyperkeratotic papules on the face and neck (Fig. ). The histopathological study demonstrated dilated follicles with digitate follicular hyperkeratosis and parakeratosis. Neither trichostasis nor koilocyte was observed (Fig. ). Laboratory investigations, including complete blood count, blood chemistry, serum protein electrophoresis, and urinalysis were within normal limit. Based on the history, physical examination, histopathological study, and laboratory findings, the diagnosis of idiopathic follicular hyperkeratotic spicules was performed. The patient received topical 0.1% adapalene gel to be applied once daily. Two months later, the condition showed mild improvement.


A 51-year-old non-smoking woman was referred to our hospital due to cough and wheezing at night for 2 months. She had no remarkable past history or comorbidities. Her physical findings were wheezing in the anterior lung fields. Her chest X-ray and respiratory function tests were normal. She was diagnosed with asthma based on her clinical history and underwent inhaled corticosteroid treatment for 2 months.
A polyp was subsequently found by chance in the subglottis by esophagogastroduodenoscopy during a thorough medical check-up. A chest computed tomography (CT) scan showed a round tumor (major axis, 15 mm) in the periphery 30 mm from the glottis (). We could hear stridor in the trachea and neck. Laboratory tests and tests for tumor markers, including carcinoembryonic antigen and squamous cell carcinoma antigen, were unremarkable. A pulmonary function test performed at the first visit showed a forced expiratory volume in 1 second (FEV1) of 2.95 L (126.9% of predicted) and a forced vital capacity (FVC) of 3.73 L (133.9% of predicted). The FEV1/FVC ratio was 79.1%, and the shape of the flow–volume curve suggested upper airway obstruction (). A whole-body contrast-enhanced CT scan found no additional abnormalities. Bronchoscopic examination showed a tumor occluding ~80% of the tracheal lumen, with a smooth surface and capillary dilatation (). Since the tracheal tumor was smaller than the tracheal diameter and there was thought to be no risk of tracheal obstruction due to resection, we performed bronchoscopic electrosurgical snaring for diagnosis and treatment. We resected the tumor completely and removed it from the trachea with forceps (). Immediately after the procedure, her symptoms improved significantly. The post-operative course was uneventful. Histological examination revealed pleomorphic adenoma. Histological examination of the resected specimens included abundant epithelial and stromal components (). The epithelial components contained glandular structures (). A pulmonary function test performed 2 months after the procedure showed an FEV1 of 3.11 L (133.5% of predicted) and an FVC of 3.80 L (153.7% of predicted). The FEV1/FVC ratio was 81.8%, and the shape of the flow–volume curve was improved to normal (). Thirty months after the procedure, the patient’s condition was satisfactory, and no abnormal findings were observed by chest CT scan.


A 78-year-old man had exanthema on his head and visited the Department of Dermatology in the general hospital in October 2009. It was removed by surgery. Pathological examinations of the removed specimens led to a diagnosis of malignant melanoma. He received a course of follow-up examinations for 4 years because the cancer did not metastasize. Then, the malignant lesions were found to have spread to the right lung, which were then removed during an additional surgery. He was subsequently diagnosed as T4aN0M1 Stage IV. Based on a second opinion, he visited the Department of Dermatology in our hospital and he elected to receive 4 cycles of dacarbazine, nimustine, vincristine, and interferon-beta starting in January 2014. After finding new metastasis in the liver and lungs, he was additionally administered nivolumab. However, 3 months later, further metastasis to the bones, pleura, and peritoneum were found. Therefore, in June 2017, it was decided to start the patient on a new treatment with ipilimumab. He had received ipilimumab at 3mg/kg (weight of him was 55.5kg) every 3 weeks for 4 cycles according to the protocol. After 2 cycles of ipilimumab, the patient noticed impairment of the visual field in both of his eyes at 22 days after the last administration and visited our department in August.
At his initial visit, best corrected visual acuity was 16/20 in both eyes and there were no abnormal findings in either the anterior chamber or optic media. Fundus examination revealed serous retinal detachment (SRD) and several retinal pigment epithelial detachments in both eyes (). Fluorescein angiography (Spectralis HRA+OCT; Heidelberg Engineering GmbH) revealed no obvious leakage in either of the SRD areas. Indocyanine green angiography (Spectralis HRA+OCT; Heidelberg Engineering GmbH) showed neither leakage during both the early and late phases nor any abnormal choroidal hyperpermeability (). SS-OCT (Topcon DRI OCT Triton Swept Source OCT, Topcon, Japan) identified SRD accompanied by a widely distributed high reflection of the photoreceptor outer segment when using the horizontal and vertical 12 mm B-scanned images. High reflection of the photoreceptor outer segment was detected in both areas where the SRD appeared and did not appear. In normal retina, ellipsoid zone and interdigitation zone are distinguishable, however in these suffered areas, the distribution of the high reflection was not used to differentiate between the interdigitation zone and the ellipsoid zone. SS-OCT also detected thickening (maximum diameter 75 μm) of the photoreceptor outer segment (). Fundus autofluorescence (FAF) showed there were no abnormalities (). After this evaluation, he was administered 4 cycles of ipilimumab. During his course of follow-up examinations, initially there was a slight increase in the SRD during 4 cycles of ipilimumab, after which the SRD then gradually decreased, and the impairment of his visual field stabilized. Although best corrected visual acuity was 16/20 in both eyes, the SRD and obscurity of the interdigitation zone remained (). He had hyperopia at the initial visit and no shift occurred during a course of follow-up examinations.


A 59-year-old woman was admitted to the palliative and supportive care unit for patients with end-stage chronic lung disease for end-stage COPD (Global Initiative for Chronic Obstructive Lung Disease (GOLD) grade 4D). Before transfer to our unit, she was admitted to the hospital for exacerbation of COPD.
She had completed an in-patient pulmonary rehabilitation programme, 3 years prior to admission. She experienced severe breathlessness even then, mainly due to very severe hyperinflation. During this pulmonary rehabilitation programme, she was prescribed morphine sustained release (SR) 10 mg tablets, twice daily. She was prescribed fentanyl 50 μg nasal spray, for episodes of acute breathlessness, as needed, with a maximum of four doses per day. She had been prescribed morphine immediate release (IR) 5 mg oral solution for acute breathlessness earlier. However, this did not control the episodes of acute breathlessness fast enough. She was discharged after the programme. She continued to receive prescriptions from both her chest physician and her general practitioner.
At the time of the current admission, the hospital discharge letter of our patient, mentioned the prescription of fentanyl 50 μg nasal spray. She told us that she used one bottle with 10 doses, every day, for chronic breathlessness. She did not have the nasal spray with her at the time of admission. Fentanyl nasal spray was ordered and delivered to our unit the next day. She did not use other opioids. On the day of admission, we decided to administer a fentanyl 12 μg·h−1 patch, one patch to be administered every 72 h. We also prescribed 5 mg morphine IR oral solution, as needed, with a maximum of six doses per day, for episodic breathlessness. She tried morphine IR 5 mg oral solution once, after which she felt drowsy and uncomfortable for several hours. The next day, she took 10 doses of fentanyl nasal spray within a few hours. She continuously asked for more fentanyl nasal spray. She experienced anxiety, restlessness, sweating and shaking. At this point, she told us that before admission she had used at least 40 doses of fentanyl nasal spray, every day, instead of 10. Only then did we realise the overdose of fentanyl nasal spray, due to uncontrolled chronic breathlessness.
We discussed the excessive use of fentanyl with the patient and her husband. Together, we decided to discontinue fentanyl nasal spray. Instead, we increased the fentanyl patch dose to 50 μg·h−1, one patch every 72 h. Until the fentanyl patch achieved the optimal effect, 2.5 mg morphine was administered subcutaneously, six times daily, at fixed times, to treat chronic breathlessness, to prevent breathlessness episodes and to decrease her withdrawal symptoms. Meanwhile, our psychosocial team started treating her for anxiety. They also advised the interdisciplinary team on the management of her complex behaviour. The interdisciplinary team started the treatment programme, with a focus on breathlessness management. A few days later (1 week after admission), the withdrawal symptoms disappeared. Both her chronic breathlessness as well as acute episodes of breathlessness and anxiety were within control. We found a highly motivated patient, who participated in all treatment activities. Every week we decreased the dosage of the fentanyl patch, step-wise from 50 μg·h−1 to 37 μg·h−1, then 25 μg·h−1, and 12 μg·h−1, until it could be discontinued. We discussed alternatives to the morphine injections, such as morphine SR tablets, but she strongly preferred morphine injections, with a butterfly cannula. She continued with 2.5 mg subcutaneous morphine administration, five to six times daily, until she was admitted to the hospital 10 months later. She died after a few weeks in the hospital.


A 55-year-old woman visited the outpatient department of our hospital seeking relief from long-standing facial pain refractory to previous therapeutic measures over the past 8 months.
The area of concern was the mandibular right premolar region with a history of tooth extraction almost coincident with the onset of pain. A history revealed the extraction as being of a routine nonsurgical type without any incision or sutures placed.
The clinical examination revealed a healed extraction site from the soft-tissue perspective, with a slight pale-bluish hue over the tooth extracted. The site was positively tender to palpation.
Cone-beam computed tomography scans with 0.5-mm slices revealed an extraction site without osseous fill where the cortical outline of the socket could still be defined [].
Considering the fact that she had received several therapeutic regimens by orofacial pain specialists and neurologists, she was explained the possibility of a condition called NICO generally arrived at by elimination or wastebasket diagnosis.[]
She consented to the plan of surgical debridement as a last resort as all other medicinal measures had not provided her any relief.
She was started on an antibiotic 24 h preoperatively (amoxicillin 500 mg with clavulanate potassium 125 mg, to be taken twice daily) for a total of 5 days.
A 30 s preoperative mouth rinse with chlorhexidine was advised before the procedure.
On the day of surgery, the site was anesthetized using lignocaine 2% with adrenaline 1:200,000 for an inferior alveolar, lingual, and long buccal nerve block.
A paracrestal incision was planned with a lingual bias so as not to close the incision on unsupported bone [].
Mucoperiosteal flaps raised showed an area of soft necrotic bone with granulation tissue tags adherent to the periosteum.
Thorough debridement was performed and the site irrigated with sterile saline [Figures and ].
Closure was done with 5-0 polypropylene suture (Prolene, Ethicon).
The patient was reviewed on day 3 and day 7 postsurgery and was doing well with complete resolution of constant pain in the region, with the only discomfort present being from the surgical intervention.


A 53-year-old male with a 4-year history of HS requiring antibiotics, surgical excision and complex wound closure presented with multiple new draining tracts with purulence along the perineal and gluteal folds (Hurley stage II), leading to pain on sitting and lying on the back. Furthermore, he had extensive
of the inguinal folds and scrotum. He also reported a 1-week history of small abscesses with purulent drainage at the dorsum of the right foot with surrounding cellulitis and hypertrophic scar. His only other complaint was slow weight loss over the last year due to malnourishment. He worked as a maintenance employee and reported a long history of cigarette smoking, which was stopped 2 weeks prior to presentation. On exam, he was afebrile with leukocytosis of 23 k/uL with neutrophilia. On this occasion, he was also diagnosed with diabetes mellitus with HbA1c of 8.1%, for which metformin was prescribed. Burn surgery was consulted and thereafter took over care, due to the extensive HS involvement of the skin and anticipated complex surgical excision and grafting. Initially, he was discharged home with an increase in metformin dose, a 10-week course of rifampin and clindamycin, zinc supplements, in addition to education on appropriate nutritional intake.
Eight weeks later, he returned to the emergency room with increased pain and drainage from the bilateral gluteal abscesses. He underwent incision and drainage in addition to treatment with the aforementioned antibiotics. At this time, his disease was upstaged to Hurley stage III. Due to the refractory nature of his disease, he subsequently underwent a series of surgical procedures to remove the bulk of the offending tissue, divert his fecal stream and definitively close the wounds on his bilateral groin, gluteal region, perineum, scrotum and right foot (). A loop sigmoid colostomy was performed as part of the management for diversion of the fecal stream was created to allow healing of the sacral and perianal region.
For the dorsal foot HS, he underwent excision and immediate split-thickness skin graft (). Histological analysis of the foot HS skin biopsy showed thicker epidermis and irregular rete ridges compared with normal skin biopsy taken from the unaffected leg. Furthermore, there was an increased cellular infiltrate in the dermis of the HS skin compared with normal skin due to inflammation ().
A multidisciplinary team comprising of burn surgeons, a wound care nurse specialist, a nutritionist and occupational and physical therapists were involved in the care of this patient. Overall treatment goals were to optimize nutrition for adequate wound healing, improve mobility, encourage smoking cessation, establish strict glycemic control and improve quality of life. Furthermore, he was advised on appropriate footwear to offload pressure and reduce friction to prevent future pedal lesion formation. On follow-up, his surgical wounds were healing; his glycemic control improved (HbA1c = 6.5%), and he had optimum nutritional parameters. He continues to attend outpatient wound clinic and is recovering well.


An 11 year-old girl was first noted to have gross motor difficulties in her first year of life. She began to roll at 7 months sat independently at 11 months and walked at 2 years of age. Her gross motor development plateaued at 2.5 years of age. She was never able to run and fell frequently. Her birth and family history were unremarkable.
At 4 years of age she would walk but could not rise up on her heels or toes. Cranial nerve examination was normal. Distal muscle wasting was noted and her Gower maneuver was positive. Deep tendon reflexes were absent. Sensory testing was unreliable due to her age. Serum creatine kinase was 139 U/L (normal<175 U/L). Nerve conduction studies () were consistent with a diffuse motor neuropathy or neuronopathy. Her right median and bilateral sural nerve sensory responses were intact; however, all motor responses showed reduced or absent amplitudes. Needle EMG revealed abundant fibrillation potentials and positive sharp waves in her right iliopsoas and tibialis anterior muscles with large, rapidly-firing motor units observed.
Genetic testing for SMA, distal-SMA type 4, and a next-generation-sequencing panel of CMT genes (MFN2, RAB7A, LMNA, MPZ, HSPB1, NEFL, GADP1, TRPV4, HSPB8 and GJB1) was unremarkable. Muscle biopsy at 6 years of age revealed neurogenic atrophy. MRI brain and spine were unremarkable.
By 9 years of age she had further decline in her strength. If placed in a standing position she could take several hesitant steps with her knees locked. She was unable to rise from a seated to standing position. Cranial nerves remained intact. Muscle strength revealed (MRC scale): biceps 3, triceps 3, abductor pollicis brevis 0, iliopsoas 4+, tibialis anterior 2, extensor hallicus longus 0. Sensory testing noted a mild decrease in vibration and cold sensation in her lower extremities. By 11 years of age she was non-ambulatory. She could no longer feed or dress independently. She remained cognitively normal and had no weakness of her bulbar, facial or extraocular muscles.
Due to the lack of a molecular diagnosis the patient was enrolled in the Care4Rare Canada research study for exome sequencing. Ethics approval was received from the Children’s Hospital of Eastern Ontario Research Ethics Board (REB Protocol#11/04E) and consent was obtained from the patient’s mother.


The patient was a 33-year-old female with diagnosis of T-ALL. Initial laboratory data showed increased leukocyte count of 105 × 109 per liter (L), decreased hemoglobin level of 7.8 mg per deciliter (mg/dL), and decreased platelet count of 28 × 109/L. She received intensive systemic chemotherapy including L-asparaginase, prednisone, vincristine, and intrathecal methotrexate, hydrocortisone, and cytosine arabinoside, which resulted in complete remission of her disease, and then underwent allogeneic hematopoietic stem cell transplantation. After a 15 mo period without symptoms and signs of progression, the patient presented with palpable masses in both breasts. She complained from severe pain and swelling of the breasts.
Polymerase chain reaction analysis of bone marrow aspirates demonstrated complete allogeneic hematopoietic chimerism, and there were no leukemic lesions at other sites including the bone marrow and cerebrospinal fluid. Imaging workup included bilateral mammography, doppler ultrasonography and breast magnetic resonance imaging (MRI). On ultrasonography, lesions were detected in the upper inner quadrant of the right breast with mixed echo and significant hyperechogenicity. Another lesion was detected in the left breast with mixed echo and significant hyperechogenicity. Doppler ultrasonographic assessment showed vascularization in these breast lesions. Diffusion-weighted and dynamic contrast-enhanced breast MRI revealed significant diffusion restriction and type 2 and 3 contrast patterns. Lesion on the right breast was heterogeneously hypointense with contrast enhancement. The lesion in the left breast also showed contrast enhancement, and was hypointense on T1 weighted sequencing, and hyperintense on fat suppressed MRI.


An 85-year-old female patient presented to the dermatology OPD with the complaints of itchy growth over the external genitalia, perianal region, and left axilla for the past 4 months. It was also associated with painful defecation. She also developed thickening and crusting of the lips and fissuring of the tongue leading to intolerance to spicy food for the past 2 months. On detailed history taking, initially, fluid-filled lesions were present over the same sites which easily ruptured, leaving behind erosions. Subsequently, hypertrophic and verrucous lesions appeared over the external genitalia and perianal region. There was a past history of the appearance of similar lesions 20 years back at similar sites. She was diagnosed as a case of condyloma lata and treated with injection benzathine penicillin 3 months back. As there was no response, she was referred to our OPD. She was a chronic tobacco chewer.
On cutaneous examination, she had hyperpigmented, dry, verrucous, nontender plaques over the genitalia extending to the groin [], perianal region [], and the left axilla []. There were palpable bilateral discrete inguinal lymph nodes, firm in consistency. The lips were thickened along with fissuring and dry, adherent crustations. The tongue was enlarged with deep dorsal fissuring, suggestive of the cerebriform tongue []. The oral mucosa was pale. Systemic examination was within the normal limits. Complete blood count revealed hemoglobin level of 9.8 g/dL. Serum HIV and (RPR) Rapid Plasma Reagin were nonreactive. Local inguinal ultrasonography confirmed the presence of enlarged lymph nodes bilaterally. Punch biopsies were taken from lesions over the right inguinal region and axilla. Differentials considered included pyoderma vegetans, condyloma acuminata, pemphigus vegetans, and malignancy. Pus culture and sensitivity taken from the lesion through a sterile swab stick showed no growth at the end of 7 days.
Histopathological examination showed superficial and mid-perivascular and interstitial infiltrate of lymphocytes, neutrophils, and eosinophils with pseudocarcinomatous hyperplasia of the epidermis. Hyperplastic epidermis showed focal spongiosis with neutrophils and eosinophils, with suprabasal clefts at places with scant acantholysis [Figures and ]. The diagnosis of pemphigus vegetans was thus confirmed.
She was initially treated with oral prednisolone (30 mg) once a day, injectable cefotaxime (1 g) intravenous (IV) 8 hourly, and injectable metronidazole (400 mg) IV 8 hourly. Subsequently, prednisolone was tapered 5 mg every 15 days. Hematinics were given to treat the anemia. Topically, she was treated with clobetasol propionate (0.05%) and framycetin sulfate creams. On follow-up after 6 weeks, she improved markedly in the form of a reduction in the thickness of the lesions [] and decrease in the intensity of pruritus. Significant improvement was present in the lesions over the lips and tongue [].


A 65-year-old female presented with complaints of headache for 3 months. Noncontrast computed tomography (CT) head shows hyperdense structure in the right paracavernous region. Digital subtraction angiography (DSA) was performed which showed giant supraclinoid internal carotid artery (ICA) (ophthalmic segment) aneurysm []. Endovascular partial coiling and flow-diverter placement were planned. EVT was performed through transfemoral route under general anesthesia (GA) using six-French Flexor Shuttle sheath (Cook Medical, Bloomington, Indiana, USA) which was placed in the common carotid artery (CCA). Distal access catheter (DAC) 070 (Concentric Medical) 105 cm was navigated and parked in the cavernous ICA over the Marksman microcatheter (Covidien Vascular Therapies, Mansfield, Massachusetts, USA) and Synchro microguidewire (Stryker Neurovascular, Fremont, CA, USA). Type II cavernous ICA was noted according to the classification proposed by Lin et al.[] Marksman microcatheter was then navigated across the aneurysm into the proximal middle cerebral artery (MCA) for PED (4.5 mm × 20 mm) deployment. During the progressive deployment of PED, there was nonopening of PED at its proximal end [Figure and ]. We performed multiple attempts to traverse the constricted portion of PED with Marksman microcatheter over the PED delivery microwire which was ineffective []. Dyna CT angiography was done to confirm the pinched proximal portion of PED [Figure and ]. Thereafter, Echelon microcatheter (EV3, Irvine, CA, USA) over the Traxcess microwire was also tried to cross the pinched site, but we were not able to achieve success []. We performed cross-compression of the right ICA with the left ICA injection which revealed a sizeable anterior communicating artery (AcoA) and A1 segment of both anterior cerebral arteries []. Finally, we tried opposite transcranial approach across prominent AcoA with the Echelon microcatheter over the Synchro microguidewire. While trying to navigate our microcatheter over microwire, the force of the microcatheter was continuously transmitted into the MCA, and there was persistent flopping of the microcatheter into the left MCA [Figure and ]. With multiple attempts, we finally tried to navigate Echelon microcatheter over the relatively stiffer Transcend wire (Boston Scientific/Target Therapeutics) beyond the stenosis which finally resulted in the opening of the device [Figure and ]; however, there was acute extravasation of dye on check angiogram []. It was unclear from where the intraprocedural rupture occurred. We immediately reversed the heparin by giving intravenous protamine. Transform balloon microcatheter was navigated over the Traxcess microguidewire and inflated in the cavernous ICA []. The patient continued to have raised blood pressure and bradycardia despite the aggressive medication. Her pupils became dilated and fixed. The patient had persistent severe vasospasm of distal vessels and died on day 2 postprocedure. Thus, our technical success turned into disaster in this case.


A 55-year-old female presented with complaint of seizures for 3 months. Magnetic resonance imaging brain was done which showed flow void structure in relation to the left cavernous ICA causing mass effect over the temporal region suggestive of aneurysm. DSA revealed the left cavernous ICA aneurysm [Figure and ]. Type II cavernous ICA was noted according to the classification proposed by Lin et al.[] EVT was performed through transfemoral route under GA using six-French Flexor Shuttle sheath which was placed in CCA. DAC 070 105 cm was navigated and parked in the cavernous ICA over the Headway 27 microcatheter (MicroVention, Tustin, California, USA) and Synchro microguidewire. Pipeline Flex embolization device (PFED, 4.5 mm × 30 mm) placement was done across the aneurysm neck. Unsheathe and push maneuvers along with wagging of the Pipeline Flex and Headway 27 microcatheter were applied to deploy and open the PFED. During the progressive deployment of device, distal Pipeline Flex was well opened in supraclinoid ICA beyond the aneurysm; however, there was nonopening of the mid and proximal segment of Pipeline Flex [Figure and ]. To further facilitate the expansion and opening of the device, unsheathing of device followed by synchronously forward and backward movement of the Headway 27 microcatheter and Pipeline Flex was performed along the curvatures. There was persistent nonopening of the constricted proximal Pipeline Flex device. We planned to do intra-Navien deployment of the Pipeline Flex. Navien guiding catheter was first advanced over the Headway 27 microcatheter to the unopened segment of Pipeline Flex within it. The Pipeline Flex device was then deployed completely within the Navien, thus releasing the Pipeline Flex from the delivery wire and Headway 27 microcatheter now functioned as delivery wire []. Released Pipeline Flex within the Navien was then successfully deployed by simultaneous push of Headway 27 microcatheter and pull of Navien [Figure , and ]. Vessel wall apposition of Pipeline Flex device was well achieved, and no balloon angioplasty was done. There was contrast stasis in the aneurysm on final control angiogram []. Three months follow up angiogram showed complete occlusion of aneurysm.[].


A 23-year-old woman who was 35 weeks pregnant presented to the emergency department after her husband had found her collapsed at home. There was no witnessed seizure activity and no suggestion of previous episodes. This, her first pregnancy, had thus far been low risk but she had missed a community antenatal appointment at 32/40 weeks. Her booking blood pressure was 100/60 mm Hg.
The patient was previously fit and well with no significant medical history, and she took no regular medications. She lived at home with her husband and parents-in-law, was a non-smoker and did not drink alcohol. There was no family history of VTE or stroke.
On examination, she had dense left hemiparesis, power was 1/5 in the left upper and lower limbs, and was aphasic, leading to a GCS score of 14/15, demonstrating a clear neurological component to her presentation. She could communicate by writing with her right hand and was able to indicate a severe right-sided headache. She denied visual disturbances or abdominal pain. Her blood pressure was 190/120 mm Hg which was relevant due to concerns about pre-eclampsia.


A female patient aged 24 years reported to the Department of Oral and Maxillofacial Surgery with the chief complaint of swelling in the midpalatal region since a year. On elaborating, the swelling was gradual in onset, slowly enlarging, and was not associated with pain, fever, or discharge from nose or locally. There was no evidence of infraorbital paresthesia. The patient gave a history of fractured 21,One and half years ago as a result of trauma. She gave a history of betel nut chewing occasionally. No significant medical history was present.
On extraoral examination, a diffuse swelling was present in the left malar region extending mediolaterally 1 cm from left ala of nose to 4 cm medial to tragus and superoinferiorly 2 cm from left infraorbital region to 1.5cm above the left corner of the mouth []. Skin over the swelling was normal, and the swelling was firm, non-fluctuant and non-tender. It was noted that the patient has an adequate mouth opening.
On intraoral examination, a well-localized swelling measuring 2 × 1.5 cm approximately, involving the midpalatal region was noted [] with slight erythema present over the mucosa. The swelling on palpation was seen to be soft, fluctuant, and non-tender. It was noted that there was a firm swelling present with respect to the buccal cortex of the left maxilla as well, crepitus was elicited on palpation. Electronic pulp testing was carried out, and it was noted that 21–25 teeth did not show any response, 26–28 teeth elicited delayed response. Aspiration of the contents was performed. It yielded a pale yellow-colored fluid. Protein estimation of the fluid was reported to be 8.6 mg/dL [].
Panoramic radiography was performed, which showed a unilocular radiolucency with sclerotic borders, extending into the left maxillary sinus, primarily surrounding the roots of 21–26 teeth []. Computed tomography (CT) Paranasal sinus view (PNS) view showed a well-corticated cystic lesion 4 × 4 cm, involving maxilla on left side with extension into the maxillary sinus. Erosion of the anterolateral wall of the maxillary sinus along with palatal roof was noted [].
Incisional biopsy was performed via buccal approach, it was noted that the lesion had expanded and eroded the buccal cortex, and was extremely thin as a number 15 blade was used to remove the overlying bone to expose the lesion. The sections were submitted and the report was awaited.
The diagnosis of Gardner’s cyst is arrived upon when the superficial layer of the epithelial lining consists of columnar or cuboidal cells, referred to as hobnail, occasionally with cilia or filiform extensions of the cytoplasm. The incisional biopsy histopathologic report in our case came as GOC []. The cystic cavity was seen to be lined by nonkeratinized stratified epithelium with a thickness of 3–4 layers of cuboidal cells, with numerous mucous cells and stellate reticulum-like cells. In few areas, epithelial cells were seen to be proliferating due to inflammation. Separation of the epithelium from underlying connective tissue was also observed in few areas. Supporting connective tissue consisted of loosely arranged collagen fibers moderately infiltrated with chronic inflammatory cells. Deeper to that osteoid tissue was also present. The diagnosis of GOC was made only by histopathologic analysis, which again stresses the role of oral and maxillofacial pathologist in our field. However, immunohistochemical examination was also proposed to patient but it was not performed due to financial concern of the patient. Caldwell-Luc approach [] was used to expose the lesion []. The cyst was enucleated [] and packing of the antrum was carried out with povidone–iodine impregnated ribbon gauze, followed by which a priorly fabricated acrylic plate [] was used to cover the defect and the specimen was send for biopsy and the mucoperiosteal flap elevated was sutured with Vicryl 4-0.
The patient was on regular follow-up for 2 years due to its 30% recurrence rates chances and was doing well without any difficulty, with no signs and symptoms of disease.


A 39-year-old man presented with a 1-month history of upper abdominal discomfort.
The patient’s symptoms were abdominal distension, postprandial nausea, and vomiting. The symptom aggravated gradually.
The patient had a history of drinking about 750g of wine every day for 10 years and denied a history of tobacco use, hypertension, diabetes, or prior surgery.
The patient had no significant personal or family history.
Physical examination revealed no other remarkable findings with the exception of slightly elevated upper abdomen.
Laboratory tests showed a white blood cell count of 7.54 × 109/L, and C-reactive protein level of 2.41 mg/L; the alanine aminotransferase, aspartate aminotransferase, gamma-glutamyl transferase, amylase, and total bilirubin levels were normal. Blood tests also showed a cancer antigen 19-9 level < 2 U/mL, cancer antigen 125 level of 8.4 U/mL, carcinoembryonic antigen level of 4.11 ng/mL, and cancer antigen 50 level of 0.5 U/mL.
Contrast-enhanced computed tomography of the abdomen showed thickening of the intestinal wall with enhancement of the descending segment of the duodenum, which could not be clearly differentiated from the head of the pancreas (Figure ). It looks like an increased fat tissue concentration around the duodenum (Figure ). Both the common bile duct and pancreatic duct were dilated (Figure ). The radiologists provided an imaging diagnosis of a mass in the head of the pancreas. Upper gastrointestinal radiographs showed no contrast medium entering the descending duodenum (Figure ). Furthermore, gastrointestinal endoscopy showed a complete obstruction of the descending duodenum, and contrast medium accumulating at site of the obstruction (Figure ). Because no mucosal lesion was found by gastrointestinal endoscopy, no biopsy specimen was taken. The patient was presumptively diagnosed with a solid neoplasm located in the pancreatic head. Because the patient urged to have an operation as soon as possible to determine the property of lesion, no more image examination was performed.


A 24-year-old systemically healthy female subject came with the complaint of mobile upper right central incisor []. Clinical examination revealed an endodontic-periodontic lesion in relation to 11 and the tooth was Grade II mobile. Since it was an esthetic region, extraction with an appropriate technique to achieve soft tissue augmentation over a grafted maxillary anterior extraction site was planned.
After premedication, local anesthesia was secured and an atraumatic extraction was performed carefully preserving the remaining hard and soft periodontal tissues []. Following extraction, intraoral measurements were taken to harvest a pediculated CTG to cover the extraction socket. The length of the required pediculated connective tissue was calculated by the sum of three pre-recorded measurements 1. The buccolingual width of the extraction site 2. The distance between the palatal edge of the extraction site and the base of the pedicle (usually 4mm), and 3. An extra 3 mm to “tuck” the flap into the buccal gingival tissue. The width of the pedicle was determined by measuring the mesiodistal dimension of the extraction site and adding 1 mm to account for graft shrinkage. An “L-”shaped incision was given distal to the lateral incisor that extended to the mesial side of first molar. The margin of the incision was maintained at a distance of 4–5 mm from the free gingival margin to prevent marginal tissue recession at the donor site. The base of the incision was maintained at a distance of 3–4 mm from the extraction socket. A partial thickness dissection was done to facilitate harvesting the underlying connective tissue. The connective tissue was elevated with the underlying periosteum and was attached at the base close to the socket []. The isthmus between the socket and the base of the pedicle was undermined using an Orban's knife. The extraction socket was packed with bone graft (Sil-Oss®, AzureBio, Spain) and the pediculated connective tissue was tucked into the buccal pouch [] and secured with the help of sutures []. Primary closure was obtained at the donor site as well []. Appropriate postsurgical protocols were followed.
The patient reported to the clinic after 1 month with a complaint of dysphagia and intermittent bleeding. On examination, a 15 mm × 20 mm exophytic growth extending from the palatal donor site to distance of 3–4 mm from the extraction socket was observed []. While it appeared sessile, on manipulation, the growth was pediculated at the palatal donor site and resulted in the displacement of the “epithelial door” that essentially covers the surgical site in CTG procedures []. The growth was creamish-brown and soft and exhibited a slightly nodular surface that bled easily on slight touch. The recipient site appeared normal and no extravasation or exposure of the graft material was seen.
After obtaining the subject's consent, surgical excision of the growth was planned and scheduled. Local anesthesia was administered and the growth was excised from the base []. The growth appeared to have originated mostly from the donor site and from an isthmus of CTG near the extraction socket []. Necrotized epithelial tags were excised, debris were flushed out under irrigation, and the flaps were loosely closed []. Two weeks post-excision, the sites exhibited uneventful healing []. On histopathological examination [], thin parakeratinized stratified squamous epithelium and underlying connective tissue with haphazardly arranged dense collagen fibers with numerous blood vessels lined by endothelial cell proliferation wer seen. In deeper sections, glands are evident in focal areas. Chronic inflammatory cells were also noted. These findings were suggestive of pyogenic granuloma.


The patient was a 19-year-old girl, inhabitant of urban area of Hamadan Province, West Iran. She presented to Sina Hospital at the end of 2017, with complaints of pain, redness, and blurred vision of both the eyes since 2 months ago. Examination of her eyes by an ophthalmologist revealed panuveitis. The patient denied other complaints such as cough, weight loss, fever, and chills or perspiration.
Physical examination revealed some nodular erythematous lesions with an approximate size of 2 cm × 2 cm on the anterior and posterior aspects of both the lower legs, which was treated as eczema for 1 year []. Furthermore, some condyloma acuminata were seen on her genitalia and perianal area, persistent over the past 2 years despite numerous medical and electrosurgical therapies.
She had a history of smear-positive pulmonary TB 10 years ago with good response to standard treatment. Her brother had a history of disseminated TB as well, with simultaneous involvement of the brain, omentum, and gastrointestinal tract. The patient's brother had been successfully treated with anti-TB treatment and interferon-gamma (IFN-γ).
Results of laboratory tests and imaging studies were as follows: white blood cell = 7000, hemoglobin = 10.4 g/dl, erythrocyte sedimentation rate = 29 mm/h, C-reactive protein = +1, angiotensin-converting enzyme = 34, tuberculin skin test (TST) =25 mm, HIV test (fourth-generation enzyme-linked immunosorbent assay): negative, venereal disease research laboratory: negative, and chest X-ray: normal. Histopathologic examination of skin biopsies obtained from lower leg and perianal lesions confirmed the diagnosis of erythema induratum and condyloma acuminatum, respectively. With respect to familial history of disseminated TB, personal history of pulmonary TB, existence of erythema induratum, and persistent genital warts, we decided to evaluate the patient's immune system by laboratory tests including C3, C4, CH50, immunoglobulin G (IgG), IgM, IgA, CD3, CD4, CD8, CD16, and CD56. However, these tests were all normal.
Based on the result of TST, past TB history, presence of erythema induratum, and exclusion of other causes of panuveitis, anti-TB drugs as well as short course of oral prednisolone were started. Uveitis responded dramatically to this medical treatment, but the improvement of erythema induratum was slow and took a few months to appear.
After 3 weeks, the patient was admitted again to the infectious ward with drug hepatotoxicity. Chief complaints of the patient were nausea, vomiting, and abdominal discomfort concomitant with abnormal laboratory tests (aspartate aminotransferase = 134 U/L, alanine aminotransferase = 157 U/L, alkaline phosphatase = 418 U/L, total bilirubin = 1.99 mg/dL, direct bilirubin = 1.66 mg/dl, and international normalized ratio = 1.1). After normalization of liver function tests, anti-TB treatment was restarted and continued without any problem. Taking into consideration, the role of stimulation of immune system on improvement of her genital warts, along with an unfavorable response of her condyloma to previous electrosurgical treatments, we started intralesional and systemic IFN-γ twice a week for 2 months. This treatment resulted in disappearance of all her genital lesions.


A 47-year-old male patient diagnosed with hypertension (since 1999), who was nondiabetic, and diagnosed with chronic kidney disease Stage V (~2012) on maintenance hemodialysis (MHD) (10/months) since February 2016 was admitted in our hospital for a second renal transplant. His blood group was O positive. The first renal transplant was done in June 2012. The donor was his 62-year-old mother of the same blood group. His histocompatibility workup before the first transplant included low-resolution HLA-A, B and DR typing of both patient and donor. HLA type of the patient was HLA-A*29, 68; HLAB*44, 44; and DRB1*07, 11. HLA type of the donor was HLA-A*03, 68; HLA-B*39, 44; and DRB1*07, 10 with a 3/6 match. His HLA antibody screen and complement-dependent cytotoxicity crossmatch was negative. No therapeutic plasma exchanges were done during stay and posttransplant, and he was on triple immunosuppressant (solumedrol + mycophenolate + tacrolimus). The patient was discharged and had no complaints until March 2014. A causal biopsy was done, and chronic active antibody-mediated rejection (AMR) with C4d positivity, thrombotic microangiopathy, and immunofluorescence IgA positivity suggestive of recurrent membranoproliferative glomerulonephritis was diagnosed. His serum creatinine level gradually increased to 5 mg/dl since then. He was managed on MHD and second renal transplant was planned, and histocompatibility workup was started. HLA antibody screen was done and found to be positive for HLA Class II. Panel reactive antibody showed HLA Class I 0% and II value 97%. Single-antigen bead (SAB) assay for HLA Class II showed multiple HLA Class II antibodies with varying mean fluorescent intensities (MFIs) (1017–17761). Since initially, only HLA-A, B, and DR typing was performed and that too only low-resolution and high-resolution HLA typing was done for HLA-DR and DQ to ascertain if these antibodies are de novo DQ/DR DSA. On analysis, it was clear that the patient had developed de novo DSA against HLA-DRB1*10:01 (DR10), MFI-2374 and DQB1*06:01 (DQ6), and MFI-15315.


A 53-year-old male with a past medical history of hypertension, diabetes mellitus, obstructive sleep apnea, and congestive heart failure presented to the emergency department for increasing shortness of breath (SOB) over the past 2 weeks. He complained of SOB when lying down and when walking more than one block. He had no prior history of coronary artery disease, but previously an automated cardiovascular defibrillator was placed for nonischemic cardiomyopathy. In the emergency room, his vitals were temperature: 98.1°F, pulse rate: 108/min, respiratory rate: 20/min, blood pressure: 120/87 mmHg, and SpO2: 97%. His serum electrolytes were within normal limits, serum brain natriuretic peptide level was 776 pg/mL, and serum troponin was 0.15 ng/mL. His echocardiography showed severely decreased left ventricular ejection fraction (6%–10%), cardiomyopathy, moderately dilated left ventricular cavity, moderately reduced right ventricular function, and dilated left atrium. He was admitted to the hospital for acute on chronic systolic heart failure. He was initially started on Lasix drip, metolazone, and spironolactone for medical management. He improved on medication and was planned for right-heart catheterization (RHC) after medical stabilization. During the first RHC, he became hypoxemic and hypotensive. He was immediately transferred to the coronary intensive care unit on milrinone and vasopressin. He was stabilized and planned for bedside SGC. At the end of the procedure, he started to complain of itching all over his body. Then within seconds, he went into respiratory failure and cardiac arrest (pulseless electrical activity). The patient was managed according to the advanced cardiac life support protocols. He was intubated after developing anaphylaxis and was treated with epinephrine, intravenous steroids, and antihistamines. Due to the concern of cardiac tamponade and pericardial effusion, bedside ultrasonography (USG) was performed. There was no evidence of pericardial tamponade on USG. The patient had hives and rash all over his body postcardiopulmonary resuscitation. It was determined that the patient likely developed anaphylaxis during SGC placement. On investigation, it was discovered that the SGC contained latex as one of the components. The patient had no prior history of allergy to latex products. He was monitored in the cardiac care unit. He was subsequently extubated after improvement and planned to be discharged. He was recommended to follow-up with the heart failure team and an allergy specialist.


A 51-year-old Egyptian gentleman was diagnosed with CML in 2007. He was commenced on imatinib but failed to achieve major molecular response (MMR) 4.5 log reduction at 1 year as per European Leukemia Net recommendation, so he was switched to nilotinib. He achieved and maintained MMR 4.5 log reduction for around 6 years after starting nilotinib, so his primary hematologist decided for treatment-free remission trial in 2013. He presented to our hospital in March 2019 with 2-week history of left upper quadrant abdominal pain associated with anorexia and easy fatigability. Physical examination was positive for pallor and hepatosplenomegaly and it did not reveal any source of bleeding. Lab tests on presentation showed: white blood cells (WBCs) of 90.2 with neutrophilia, eosinophilia, and basophilia. Hemoglobin (Hb) was 6.6 g/dL, with mean corpuscular volume (MCV) of 62, and platelets of 497. Renal and liver function tests were within normal limits and uric acid was 745 μmol/L. Anemia work up was impressive of positive direct antiglobulin test (DAT) but with slightly elevated lactate dehydrogenase (LDH) and normal reticulocyte count. Viral serology was negative for Epstein-Barr virus (EBV), cytomegalovirus (CMV), and HIV. Peripheral smear was suggestive of CML with 1% blasts besides hypochromic microcytic anemia. Cytogenetic and fluorescence in situ hybridization (FISH) studies on a bone marrow biopsy confirmed CML relapse in chronic phase in addition to the presence of erythroid hyperplasia. The patient was started on hydroxyurea 500 mg twice daily with allopurinol 300 mg twice daily and discharged after uneventful transfusion of 2 units of matched packed red blood cells (RBCs). However, his Hb increased only to 7 g/dL. His anemia was initially attributed to CML relapse. Two weeks later, he presented with tiredness and Hb of 5.8 g/dL. Another 2 units of compatible packed RBCs were transfused and his Hb improved to 7.7 g/dL. Repeated anemia work up showed picture of hemolysis with elevated reticulocyte count, LDH, and positive DAT. Diagnosis of AIHA was made and the patient was discharged on prednisolone 80 mg daily. Chronic myeloid leukemia treatment was restarted 1 week later with nilotinib 400 mg twice daily. Follow up after 6 weeks from steroid therapy showed improvement of Hb level to 9 g/dL (). The patient currently is doing well and being followed regularly in hematology clinic. He achieved complete hematologic remission and the milestone of molecular response at 3 months from restarting nilotinib therapy.


A 56-year-old female was admitted in the Department of Oral Maxillofacial Head and Neck Oncology Surgery with a history of painless mass of the left posterior region of the parotid gland. The swelling was slowly progressive over a period of 2 months and there were no associated systemic symptoms. Physical examination revealed a parotid mass 1.5 cm × 2 cm × 2 cm in size, firm in consistency, and with no palpable cervical lymph nodes. The preoperative computed tomography (CT) scan depicted a 4.5 cm × 3.4 cm × 3.2 cm sized irregular lobular mass involving the deep lobe of the left parotid gland. Margins were clear, uneven texture, and the compression of the left internal jugular vein with the forward displacement was observed. The cervical lymph nodes were not enlarged []. The coronal CT demonstrated a soft tissue mass that extended up to the left temporal bone []. Parotid gland pleomorphism adenoma or facial nerve neurilemmoma was the clinical differential diagnosis. Following discussion and after obtaining consent from the patient, left partial parotidectomy with conservation of facial nerve was performed under general anesthesia. During the course of the surgery, the tumor was identified with an intact capsule and jugular vein, and the carotid artery was palpated [Figure –].


A 54-year-old man who suffered from abdominal pain and melena visited a nearby hospital. He had a medical history of hyperlipidemia and diabetes but had no risk factors for SBA. After clinical evaluation, a jejunum tumor was suspected. In July 2017, he underwent partial resection of the jejunum with regional lymphadenectomy and combined resection of the transverse colon. The transverse colon was attached to the jejunum tumor and they could not be separated. The jejunum tumor was approximately 10 cm caudal to Treitz ligament. Pathological diagnosis was poorly differentiated adenocarcinoma, pT4N2M0 Stage IIIB [UICC-TNM: 8th edition; ,,,].
In August 2017, he was referred to our hospital for the purpose of adjuvant treatment. However, due to a liver metastasis detected by a computed tomography (CT) scan at the time of admittance, palliative chemotherapy using capecitabine and oxaliplatin (CAPOX) was selected. However, the efficacy of CAPOX and second-line FOLFIRI (5-fluoropyrimidine/ leucovorin/irinotecan) chemotherapy was limited.
In April 2018, during the course of the third-line chemotherapy using nab-paclitaxel, he presented with dizziness, followed by headache, nausea, and ataxia symptoms which were remarkable. Magnetic resonance imaging (MRI) revealed a cystic lesion with a major axis of 38 mm attached to the tent in the left cerebellum. The lesion had weak contrast effect and was accompanied by edema. Tumor resection was performed for symptom control. The contents of the cyst were old brownish hematoma-like liquid with nodular lesions.
The pathological diagnosis revealed brain metastasis of poorly differentiated SBA [, and , ].
Pathological findings of the primary jejunum tumor were reviewed. The jejunum tumor was poorly differentiated adenocarcinoma resembling cerebellum tumor. Squamous differentiation was limited, observed in part of the tumor. Immunohistochemically, the jejunum tumor cells were positive for cytokeratin (CK) 7, CK8, hepatocyte nuclear factor 4α (HNF4α), vimentin, and p40 (partially positive on cancer cells with squamous differentiation). They were negative for CK20, thyroid transcription factor 1, and caudal- type homeobox protein 2 (CDX2). Next-generation DNA sequencing (NGS) of primary lesions showed a KRAS codon 12 mutation, which is the most frequent genetic alteration of SBA. Based on surgical, radiological, pathological, and genetic findings, this brain tumor was comprehensively diagnosed as a metastasis from poorly differentiated SBA.
Postoperative MRI revealed total removal of the tumor; thus, according to the results of the JCOG 0504 trial, we chose close observation without additional radiotherapy [- and ].[] After the surgery, his general condition was improved, and he was discharged from our hospital without any neurological deficits.
The next day, he was urgently admitted due to bowel obstruction and melena. A CT scan showed the progression of multiple peritoneal metastases. A month later, periodical MRI revealed obstructive hydrocephalus accompanying the recurrence of brain tumor []. Ventricular drainage was scheduled in case the symptoms worsened, but he suddenly died the next day due to cerebral hernia caused by intratumoral hemorrhage [,].


An 84-year-old male with a clinical history of multinodular goitre and hyperthyroidism presented an acute syndrome with fever and epigastric pain. Past history included hypertension, chronic obstructive airways disease and benign prostatic hyperplasia. Thyrotoxicosis was diagnosed 4 years previously. FT4 was 23.2 pmol/l (12–22 pmol/l), TSH was <0.005 mUI/l (0.27–4.2 mUI/l) and TSH receptor antibodies were negative. The patient had been treated and well controlled on BTU 100 mg/day. On admission, blood pressure was 160/82 and his pulse was regular (88/min). The patient was complaining of an epigastric pain with important abdominal distension and a rebound tenderness at the left upper quadrant. A small multinodular goitre was palpable. The obtained laboratory data are shown in . An abdominal scan showed a distal thrombosis of the splenic artery with splenic infarction. There was no artery aneurysm. An ECG showed a left bundle branch block with lateral repolarization abnormalities. There were no occasional cardiac arrhythmias or atrial fibrillation on Holter monitoring. Echocardiography did not find a thrombus in the left ventricular cavity, no arguments for an endocarditis, but did show an anteroseptal akinesis. The laboratory exploration of a possible prothrombotic state: complete blood account, haemostasis tests, activated protein C resistance, factor V Leiden, protein C, S, antithrombin III, showed normal results. A HIV serology test was negative. We detected a moderate hyperhomocysteinaemia of 21.8 (N:5–15 μmol/l). Testing for antinuclear antibodies (ANA), antiphospholipid antibodies (APL) and ANCA anti-PR3 was negative. However, testing for p-ANCA, with anti-MPO specificity, was clearly positive: 120.6 CU (N<20.0). We did not find other systemic manifestations, except a kidney failure stage 3A, without haematuria or proteinuria. BTU was discontinued without steroids or immune-modulating drugs. Subsequently, clinical symptoms progressively ceased. Two months later, thiamazole 10 mg was introduced because of a relapse of the thyroid disorder.
Four months after the cessation of BTU, titres of ANCA-MPO fell until normalized. Serum concentrations of TSH and FT4 were appropriate, and creatinine was stabilized at 140 μmol/l.


A 58-year-old woman presented with dyspnea and painless mass on the left supraclavicular area that had been present for a year. The patient’s history included Diabetes Mellitus (DM) for two years and right hemithyroidectomy 15 years ago, which was the cause of benign thyroid nodule. There is mild fullness on the examination of the nasopharynx. Left vocal cord was observed paramedian fixation. The result of the nasopharynx biopsy of the patient was lymphoid hyperplasia. Neck ultrasonography (USG) showed a mass of 42x26 mm in the left supraclavicular region that was seen to be blooded with Doppler USG. Fine needle aspiration biopsy was reported as suspicious cytology. Ca, PTH, anti-TPO values were normal. Upper gastrointestinal system endoscopy was carried out. The result of the biopsy was superficial gastritis. Neck computed tomography (CT) and magnetic resonance imaging (MRI) were performed (, ).
An excisional biopsy was planned for the patient. As an intraoperative problem, it was seen that the left recurrent nerve was completely swollen by the tumor. Approximately 6x4x3 cm mass was totally excised. The pathological result was reported epithelial-myoepithelial carcinoma; the surgical margin was positive. Chemoradiotherapy was planned because of positive margin and big tumor size. No recurrence was detected in nearly 18-month follow-ups. Written informed consent was obtained from the patient for this study.


A 64-year-old male, without smoking, alcohol addiction, or any other specific underlying disease histories, was initially admitted to the hospital in September 2011 with a 3-month history of change in his stools. Colonoscopy showed an ulcer-like neoplasm situated 6 cm from the anal margin with a little bleeding, covering half of the lumen (). A biopsy specimen of the neoplasm suggested high-grade intraepithelial neoplasia in rectal mucosa. The patient was re-hospitalized in November 2011. The re-examination of colonoscopy showed an ulcer type neoplasm on the dentate line with erosion, which was brittle and subjected to hemorrhage, covering half of the lumen (). A biopsy specimen of the neoplasm suggested rectal adenocarcinoma. Laboratory investigations disclosed elevated levels of carcinoembryonic antigens (CEA; 12.2 ng/mL; normal range: 0.0–5.0 ng/mL) and CA199 (38.59 U/mL; normal range: 0.00–37.00 U/mL) in the serum Contrast-enhanced MRI showed uneven thickening in rectal wall which consisted heterogeneous enhancement in enhanced scanning. The patient was then given radiotherapy with conventional fractionation as follows (Treatment region A: rectum, 200cGy per day; five fractions per week, total dose, 5000cGy/25 fractions, and treatment region B: pelvic cavity, 180cGy per day; five fractions per week, total dose, 4500cGy/25 fractions). In February 2012, he had a re-examination of colonoscopy, which showed a 2 × 2 cm2 ulcer on distal rectal wall (near the dentate line) with white tongue coating (). A biopsy specimen of the ulcer suggested rectal mucosal erosion. Contrast-enhanced MRI showed slight incrassation on lower rectal wall, no significant abnormal enhancement was found. Afterward, the patient started chemotherapy which is given in 3 week cycles and consists of capecitabine 1250 mg/m2 twice a day, day 1–14 combined with oxaliplatin 130 mg/m2 once every 3 weeks, 5 cycles of chemotherapy in total. Treatment-related toxicity is monitored through the procedure and during which the patient was also receiving symptomatic and supportive treatment. The patient was re-examined in April 2012, his serum level of carcinoembryonic antigens came out to be CEA, 1.70 ng/mL; normal range: 0.0–5.0 ng/mL, CA199, 14.25 U/mL; normal range: 0.00–37.00 U/mL. In August 2012, a contrast-enhanced MRI showed a high T2 signal slight incrassation on lower rectal wall, CEA,2.71 ng/mL; normal range: 0.0–5.0 ng/mL, CA199, 11.90 U/mL; normal range: 0.00–37.00 U/mL, and the colonoscopy showed a scar with smooth surface on distal rectal wall (near the dentate line) (). In October 2012, another contrast-enhanced MRI showed a high T2 signal 1.2 × 1.2cm tubercle with enhanced edge on the right wall of lower rectum (near the anal canal), no signs of swollen lymph node was found in pelvic cavity. In March 2013, the laboratory investigation came out to be CEA, 8.65 ng/mL; normal range: 0.0–5.0 ng/mL, CA199, 27.21 U/mL; normal range: 0.00–37.00 U/mL, the colonoscopy showed a 2 cm × 4 cm neoplasm on dentate line with erosion, which was brittle and subjected to hemorrhage (). A biopsy of the resected specimen suggested villous adenoma, suspecting canceration, and contrast-enhanced MRI showed a high T2 signal 1.5 cm × 1.5 cm tubercle with an enhanced edge on the right wall of the lower rectum (near the anal canal), no signs of swollen lymph node found in the pelvic cavity.
According to the history, the patient should be diagnosed as rectal cancer relapsed 4 months after cCR under Neo-CRT. There was no sign of cancer metastasis observed before the surgery. The patient received Laparoscopic Mile’s surgery in April 2013, during which no metastatic nodules was observed on abdominal viscera, and the tumor was located below the pelvic peritoneal reflex. The surgery dissociated the sigmoid colon and the rectum, then closed the incision with EC60 (made in Shanghai jmu medical device co. LTD, Shanghai, China) and made sigmoid flexure fistula at the left-side abdomen. The tumor specimen consisted of the anus and rectum (length: 13 cm). The tumor located in the rectum measured 1.5×1.2 cm, 5.5 cm from the upper band, and 2.5 cm from the dentate line. Gross morphological analysis showed ulcer infiltration type, growing around a quarter of the rectal wall. The tumor infiltrated peri-nerve tissue, but no sign of invasion of lymphatic vessel or blood vessel observed. No sign of tumor infiltration on both upper and lower bands. Lymph node metastases: all four mesenteric lymph nodes were clear, and the immune response (SH, PH, GH) of the lymph nodes was all positive. The precancerous interstitial reaction consisted of lymphocyte, plasmacyte, histocyte reaction and fibrosis proliferation reaction, and the non-tumor area reaction came out to be chronic mucosa tissue inflammation. Microscopic findings of the rectum mass showed tubular adenocarcinoma (stage II-III, ). The immunoenzyme labeled Ki-67 test showed 55% of the tumor tissue was positive (). The postoperative follow-up showed the patient was recovering very well. shows the patient’s disease stage.


A 30-year-old Chinese man with 8-day intermittent chest pain was admitted to our hospital on 17 August 2015. His cardiovascular examination revealed an initial blood pressure of 115/72 mmHg, heart rate of 68 b.p.m., and his electrocardiogram showed Q-wave formation in the precordial and inferior leads and T-wave inversion in precordial leads (Figure and F) with a raised initial high-sensitivity troponin level which was 304.7 ng/L (0–15 ng/L). On auscultation, his chest was clear and heart sounds were normal. He had experienced oral and GUs for the previous 12 years and complained about episodes of fever for the last 2 months. He had neither a history of smoking nor a family history of coronary heart disease. No medication was taken before admission. Coronary angiography (CAG) revealed two aneurysms in the left anterior descending artery (LAD) with a 90% stenosis following the distal aneurysm (Figure and B; ). Consequently, a drug-eluting stent (DES, 3.5 × 24 mm) was implanted successfully in the middle LAD (Figure and D). Additionally, aspirin, clopidogrel, atorvastatin, metoprolol, benazepril, trimetazidine, and pantoprazole were prescribed to the patient. A transthoracic echocardiogram showed apical hypokinesia, left ventricular ejection fraction of 50%, and an apical ventricular aneurysm (35 × 18 mm).
Four months after discharge, the patient was admitted because of recurrent chest pain, associated with nausea and vomiting. The electrocardiogram showed elevated ST-segment in precordial leads (Figure ) with a raised initial high-sensitivity troponin level which was 932.1 ng/L. The patient received double antiplatelet therapy and an emergency CAG revealed a total occlusion of the LAD (). A guidewire was successfully advanced across the occlusive lesion () and a large fresh red thrombus was removed by aspiration catheter. The intervention was ended due to good blood flow of distal LAD after an intracoronary tirofiban bolus. The C-reactive protein (CRP) level was 75.5 mg/L (0–8 mg/L) and erythrocyte sedimentation rate (ESR) 84 mm/h (0–15 mm/h). Four days later, a GRAFTMASTER covered stent was implanted successfully in the middle LAD. In order to better characterize coronary anatomy, intravascular ultrasound, and computed tomography coronary angiography were performed, confirming the presence of two CAA at the level of the proximal and middle LAD (8 × 9 mm and 16 × 5 mm, respectively). Accordingly, a second covered stent was implanted in the proximal LAD on 11 April 2016 ().
The patient was treated appropriately with warfarin for 9 months. Immunosuppressive drugs were prescribed to the patient after his second discharge with a combination of prednisone, cyclophosphamide, and thalidomide to maintain normal CRP and ESR levels. Due to the poor management of the OU and fertility needs, the above prescription was then changed into cyclosporine and methylprednisolone. Additional testing for antibody and pathergy test were negative. The CRP and ESR level were normal. During the follow-up in 2019, the patient remains asymptomatic.