A 58-year-old Caucasian male patient who had undergone synthetic hair implants for advanced androgenetic alopecia presented with the complaint of pain, pruritus, hemorrhagic oozing, and crusting in the area of the implants. After having undergone autologous hair transplantations on a yearly basis between 1981 and 1986 resulting in a poor donor area, he eventually submitted himself to his first synthetic hair fiber implantation with Nido synthetic hair from Japan offered to him and performed by his hair stylist. Within days of the procedure, he experienced symptoms of inflammation at the site of the implants. Nevertheless, due to a loss rate of 1–2 hair fibers/day he had artificial implants, eventually Biofibre from Italy, repeated by his hair stylist twice yearly until 2015. In addition, in an attempt to camouflage the alopecic vertex area, he had his scalp tattooed. All along and despite persistent symptoms of the scalp, medical assistance was never sought by the patient, who treated lesions to no prevail with topical fusidic acid and a compound of fusidic acid and betamethasone that were ordered by himself from the internet and without prescription.
Clinical examination revealed male pattern alopecia Grade VII on the Hamilton–Norwood scale with blotchy, slate-colored tattooing, and a frontotemporal fringe of synthetic hair implants associated with atrophy, crusts, and erosions of the scalp [].
Bacteriologic studies revealed Staphylococcus epidermidis and S. lugdunensis.
Initially, treatment with 1 × 500 mg oral levofloxacin and washing with povidone-iodine was prescribed, until growth in the mycological culture was identified as T. tonsurans [Figure –]. At this time point, treatment with 2 × 100 mg oral itraconazole was introduced for 4 weeks, and crusts were removed with a compound of clioquinol and salicylic acid in Vaseline.
Since there was residual inflammation [], despite a negative mycological culture on follow-up, the implants were removed with complete resolution of inflammation. On his one initiative, the patient hat new implants set [].
Synthetic hair implants are considered in the case of alopecia when the patient requests an immediate cosmetic result with minor surgery and cost and in the case of a poor donor area. Originally, the materials were unsuitable; there was a lack of proper medical protocols and an absence of appropriate patient information on proper aftercare. Moreover, more often there were unqualified providers, who were not trained physicians. Consequently, patients developed cutaneous complications with the risk of permanent sequelae, such as premature loss of hair, allergic reactions, irritant effects, foreign body granuloma, infection, and scarring.[] One hundred cases of postoperative complications were studied by Lepaw[] for evaluation of modes of therapy to remedy these problems. The authors found that the best results were obtained by removing the offending material and deferring cosmetic reconstruction at least 3–6 months after the fibers have been removed. They also came to the conclusion that severity of the complications makes the implantation of synthetic hair fibers into the scalp for the treatment of alopecia a dangerous and futile approach with a low-cost benefit and should therefore be abandoned totally.
Currently, the implantation of synthetic hair fibers for the treatment of alopecia has reemerged with the claim that a combination of safe fibers, suitable implant instruments, trained doctors, careful patient selection, and proper aftercare would result in significant improvement of outcome in terms of safety and efficacy.[] Therefore, in 1995, the synthetic hair implant technique was recognized as a medical procedure that should only be performed by an experienced, licensed medical doctor in a reputable medical clinic or university setting. The technique is not indicated in patients with diabetes mellitus, autoimmune disease, scalp diseases, alopecia that is not stabilized, lack of personal hygiene, or employment in dusty and dirty environment. Furthermore, these implants are not indicated in the temple area, low frontal scalp, or in any scalp area with thin tissue, such as the sideburns. The average implant is about 1000 fibers per session, respecting the appropriate distance between each fiber (2 mm) and correct inclination of the fibers (45°). One disadvantage of synthetic hair implants is that the artificial hair does not grow, requiring good aftercare and hygiene, periodical checkups, and yearly implant retouches to maintain the best cosmetic result. The implant technique has been validated with clinical studies and research from 2000 onward revealing a continuous improvement of the technique and related protocols.[] In one study, fiber loss was no more than 10%/year in 91.4% of cases, 15% in 7.8% of cases, and 20% in 0.8% of cases. As for postimplantation tolerability and complications, in the same study, 90.3% of patients recorded no problems after surgery, 5.9% developed mild infection, and 3.8% presented with inflammatory changes (allegedly from the use of improper chemical substances). Resolution of these issues occurred in 97.9% of cases.[]
Nevertheless, we observed a case of serious inflammation due to a mixed infection with S. lugdunensis and T. tonsurans, necessitating combined systemic antibiotic and antifungal treatment and removal of synthetic hair implants.
S. lugdunensis occurs both as a commensal on human skin and as a virulent coagulase-negative Staphylococcus that has been recognized to cause skin infections similar to Staphylococcus aureus.[] Otberg et al. originally reported folliculitis decalvans developing after hair restoration surgery in punch grafts.[] The presence of bacterial biofilms in the infrainfundibular part of hair follicles has recently been identified and proposed to be pathogenic in folliculitis decalvans, a disease characterized by chronic recurrent inflammation of the hair follicle, in which S. aureus has a central role.[] A biofilm represents any group of microorganisms in which cells stick to each other within a self-produced matrix of extracellular polymeric substance on living or nonliving surfaces. Bacteria living in a biofilm have different properties from free-floating bacteria of the same species, as the dense and protected environment of the film allows them to cooperate and interact in various ways. One advantage of this environment for the bacteria is increased resistance to antibiotics. Bacterial biofilms may impair cutaneous wound healing and reduce topical antibacterial efficiency in healing or treating infected skin wounds.[] No matter the sophistication, biofilms are known to develop on all medical devices and tissue engineering constructs. In the case of folliculitis decalvans, bacterial biofilms form at the interface of the hair shaft. In folliculitis decalvans following hair transplantation or synthetic fiber implants (peri-implantitis), it is conceivable that the respective bacteria, in this case Staphylococcus lugdunesis, may have been introduced in the course of the procedure.
T. tonsurans is an anthropophilic dermatophyte and a common pathogen in tinea capitis. Tinea capitis may manifest in a seborrheic dermatitis-like pattern, in a black dot ringworm type, or as kerion celsi.[] However, this pathogen causes an indolent and even asymptomatic disease in the majority of affected adults, whereas more severe inflammatory cases are associated with zoophilic or geophilic species.[] Apart from microbiological features and virulence of the fungus, inappropriate use of topical corticosteroids may worsen the infectious process since they suppress the local fungus-specific immune response. This complication is becoming more common by the increasing of self-diagnosed diseases and self-prescribed treatments,[] as in the reported case. A question that arises is when and how the fungal pathogen was introduced into the scalp, suggesting again that the hygienic and aftercare standards for synthetic hair implants were not met by the provider in question (a hair stylist) and the patient.
In summary and conclusion, synthetic hair implants represent a minor surgery technique, performed under local anesthesia by a manual implanter, which enables an immediate cosmetic result with minimal pain. Nevertheless, there remain limitations to the method. Safer and more effective options are available for hair restoration, with both follicular unit transplantation and follicular unit extraction offering very satisfactory results in most cases, when they are provided by trained hands. The option of synthetic hair implants may be considered in patients who fail on hair growth promoting agents, do not have adequate donor hair, and for whom a hair prosthesis is unacceptable. The matter was reflected on by the International Society of Hair Restoration Surgery. After evaluating all aspects on the subject, the society stated that “It is the view of the Society that this is a surgical procedure and as such should be confined to active participation of an experienced, licensed medical doctor in a reputable medical clinic or university setting. As with any surgical procedure, complications may occur which should be handled under a physician's care.”[] Therefore, good postimplant care, periodical professional checkups, and yearly implant retouches are necessary to maintain best results. Usually, problems result from lack of asepsis during the procedure, lack of patient hygiene, excessive quantity and density of implanted fibers in one session, incorrect choice of implant area, and poor aftercare. In cases, where implant-related problems, such as minor inflammation, cannot be resolved with topical cortisone and local or systemic antibiotic treatment within 15 days, an extended microbiological workup is warranted, and it may be necessary to remove the fibers.
Nil.
This case report represents an integral part of Pedro Colli's traineeship in Dermato-Trichology at the Center for Dermatology and Hair Diseases Professor Trüeb and was presented by Ralph M. Trüeb on the occasion of the Symposium “Dermokosmetika gegen Hautalterung – Neues aus der Forschung,” Society for Dermopharmacy, in Berlin, Germany, on December 02, 2016.


A 55-year-old female reported for replacement of missing teeth. On intraoral examination, there were only two natural teeth present in the oral cavity #13, 23 in the maxilla. Mandibular arch was completely edentulous []. Clinical and radiographic examination revealed that maxillary canines were periodontally sound with no mobility and periapical pathology. Various prosthetic treatment modalities were explained to the patient. The patient was not willing to extract #13 and #23, and due to severe gag reflex and presence of sufficient interarch space for the placement of metal bar, copings, denture base, and teeth arrangement, it was decided to fabricate maxillary palateless bar-supported overdenture. For mandible, treatment option decided was implant-fixed prosthesis as retention and stability are compromised in the mandible to greater extent than maxilla.
Proper case history was recorded for the patient including medical history which was noncontributory, with routine blood investigations and dental and oral examination. Diagnostic impressions and casts were prepared. DentaScan was carried out to evaluate the dimensions of available bone and appropriate-sized implants were selected []. Template in the form of conventional complete denture was prepared for mandible, and the positions of implants were decided before the surgery. Radiographic template was fabricated with the help of gutta-percha cylinders inserted in the expected location of implants and an orthopantomogram (OPG) 2D image was taken []. It helped in determining height of the available bone at the site of implant placement. At the time of surgery, radiographic template was converted to surgical template.
Flapless surgical protocol was planned as there was adequate amount of bone, 1 mm bone buccolingually, and sufficient attached mucosa was present at the surgical site such that at least 2 mm of attached gingiva would remain around the implant site. Preoperative antibiotics and analgesics were given to the patient. With the help of template placed on the crest of the ridge, Lance and Pilot drill was carried out []. Paralleling tools were placed and checked for angulations of the implant. Sequential drilling was done for placing implants at site #36, #46, #34, #43, #31 in the osteotomy site. The respective implant sizes (Touareg –S, ADIN DIS, Israel) were selected as 4.2 w/8 L, 4.2 w/8 L, 4.2 w/11.5 L, 3.75 w/13 L, and 3.75 w/13 L. Permucosal extensions were placed. Postoperative care has been administered with antibiotics, analgesics, and mouthwash. Maintenance of oral hygiene was emphasized. Immediate loading was done by converting surgical template into conventional denture by sealing holes of template with autopolymerizing resin and relining it with tissue conditioner.
For mandible, after 4 months, the patient was recalled and postoperative OPG was made and checked for proper osseointegration []. After confirming osseointegration, closed impression analogs were placed. Closed tray impression was made with elastomeric impression material (Photosil DPI, India) with double mix technique. Implant analog was threaded to the impression analog in the impression tray and cast was poured. Maxillary canine tooth preparation was performed on #13 and #23. The rubber-based elastic impression was poured into the die material to obtain cast, on which dome-shaped pattern of copings and plastic bar (Ceka-Preci-Line, Swiss-made) was placed after evaluating parallelism with the help of a surveyor. The pattern were then spruced, invested, burnout, and casted into base metal alloy. After retrieving casting from the investment, it was finished and its fit was evaluated in the patient mouth. Copings and bar assembly was cemented on the abutments. Secondary impression was made with light body after blocking out undercuts of bar. Master cast was obtained by pouring the secondary impression into die stone (Type IV – Kalabhai, Bombay).
Occlusal rims were fabricated on maxillary and mandibular casts. Horizontal and vertical maxillomandibular records were obtained with record bases and occlusion rims and transferred to a semi-adjustable Hanau Wide-Vue articulator using a face bow. Abutments were placed on the cast and wax pattern was fabricated for mandibular-fixed prosthesis. Casting was done with induction casting (Ducatron, Ugin, France), and metal trial (Wironium Plus, Bego, Germany) was carried out. Later on, ceramic (VITA VMK Master, Germany) build-up was done and final prosthesis was fabricated and cemented.
Teeth arrangement for the maxillary denture was done and try-in was done. Denture was fabricated after placing processing spacer and metal housings at time of curing the denture. After curing, the undersurface of denture will be having metal housings and yellow Hader clips. After evaluating fit of denture, female silicone yellow-colored housing was inserted with the help of insertion tool at the time of denture delivery []. Final prosthesis was evaluated for occlusion and fit []. Postoperative oral hygiene instructions were given to the patient, and proper follow-up was done.


A 73-year-old man (weight 70 kg, height 174 cm) was scheduled to undergo elective phacoemulsification under general anesthesia. He was on medications for hypertension, diabetes mellitus, and chronic kidney disease. He had no known documented allergies or a history of surgery. Preoperative laboratory tests including electrocardiography and chest radiography did not reveal any abnormalities. He did not receive any premedication. General anesthesia was induced by intravenous administration of propofol 120 mg, alfentanil 500 µg, lidocaine 40 mg, and rocuronium bromide 50 mg, and he was intubated. Anesthesia was maintained using desflurane 4.0–6.0 volume%, oxygen, and nitrous oxide. A single 500 mg dose of cephalosporin was administered intravenously after the induction of anesthesia as a prophylactic antibiotic agent, after performing a routine intradermal skin test, the result of which was negative. The surgery was uneventful for 105 minutes. At the end of surgery, pyridostigmine 15 mg and glycopyrrolate 0.4 mg were administered intravenously to antagonize the residual neuromuscular blockade. When the patient regained consciousness, deep breathing was encouraged and extubation was performed. Immediately after extubation, the patient’s electrocardiogram showed the development of premature ventricular contraction and bigeminy with a heart rate (HR) of 120 beats per minute (BPM). After immediate intravenous administration of lidocaine 60 mg, the premature ventricular contraction and bigeminy shortly returned to sinus rhythm, and the HR reduced to 80 BPM.
Approximately 5 minutes after the administration of pyridostigmine 15 mg and glycopyrrolate 0.4 mg, his blood pressure (BP) dropped to 55/32 mmHg, and the HR was 123 BPM. Intravenous phenylephrine 300 µg was administered, followed by a rapid infusion of lactated Ringer’s solution. However, the BP changed to 60/34 mmHg and the HR rose to 135 BPM. Invasive BP monitoring was established in the right radial artery. At that time, his face and trunk became erythematous, and he developed moderate skin rashes, but he showed no respiratory symptoms, such as bronchospasm, and all parameters of arterial blood gas analysis were within normal levels. With a suspected diagnosis of anaphylaxis, epinephrine 50 µg was administered intravenously. Thereafter, his BP increased to 80/40 mmHg, but dropped to 50/30 mmHg after 1 minute. To manage the refractory hypotension, continuous infusion of epinephrine was started at the rate of 0.04 µg/kg/min, and his BP remained above 85/45 mmHg. Methylprednisolone 125 mg was also injected to prevent delayed anaphylactic reactions. Approximately 40 minutes after treatment, his BP stabilized at 110/80 mmHg. Therefore, the epinephrine infusion was tapered. He underwent cardiologic evaluations, including tests for cardiac enzymes and transthoracic echocardiography, the results of which were normal. He was discharged after 2 days without any further incidents.
Laboratory assessments were performed for serum tryptase, the levels of which had increased to 42.2 µg/L (normal range: 0–11 µg/L) approximately 40 minutes after the onset of the anaphylactic episode, but decreased to 10 µg/L after 4 hours and to 3.5 µg/L after 24 hours. The level of total serum immunoglobulin (Ig) E had elevated to 211 kU/L (normal range: 0~87 kU/L). To determine the possible allergens that caused the anaphylactic reaction, uniform skin tests were performed after 8 weeks. The skin-prick and intradermal tests (at titers of 1:1000 and 1:100) were negative for all agents (lidocaine, propofol, rocuronium, alfentanil, pyridostigmine, and glycopyrrolate), and the patient refused further provocation challenge tests for a definitive diagnosis.


A 72-year-old female patient, with a symptomatic carotid stenosis previously identified by ultrasonography, has come to our attention to perform a CT angiography of the neck vessels. CT angiography examination showed the presence of a severe degree of carotid stenosis (equal to about 85% calculated with the North American Symptomatic Carotid Endarterectomy Trial method); therefore, the patient was candidate to perform a carotid endarterectomy (CEA).
However, the CT angiography has identified some significant incidental findings that have profoundly changed the patient management.
CT angiography identified an oval soft-tissue mass, well circumscribed with regular margins, with size of 34 mm × 28 mm × 23 mm, localized at the base of the tongue along the midline, with avid and inhomogeneous enhancement. This mass changed the aspect of the base of the tongue showing a major bulging on the lumen of the oropharynx, with a significant reduction of the caliber of the air column. More inferiorly, just above the geniohyoid muscle on the midline and in proximity to the hyoid bone, we detected another oval, soft-tissue mass with the same characteristics previously described, and a size of 12 mm × 22 mm × 22 mm. Finally, CT angiography revealed the absence of thyroid tissue in its normal position [].
The knowledge of the embryologic thyroid course, the absence of thyroid gland in its normal position, the location of the two masses along the midline, and their appearance on CT-scans suggest a dual ectopic thyroid, a lingual thyroid (in the base of the tongue) and suprahyoid thyroid (just above the geniohyoid muscle on the midline, in close proximity to the hyoid bone), respectively.
The ultrasound evaluation of the sublingual mass, performed by a linear array transducer (10–15 MHz), documented the typical ultrasound characteristics of the thyroid tissue [].
The patient was then evaluated by otorhinolaryngology and the diagnosis of lingual thyroid was clinically confirmed. Thyroid function tests were found in the normal range.
This patient was originally scheduled for CEA which is effective in preventing ipsilateral ischemic events in patients with symptomatic moderate and high-grade stenosis. The radiological detection and subsequently clinical confirmation of lingual thyroid addressed the patient to an endovascular procedure, by carotid angioplasty and stenting. This alternative approach was chosen to minimize the risks of an endotracheal intubation, such as hemorrhage and compromised airway. In particular, the large blood vessels on the surface of the lingual thyroid could be traumatized by the insertion of any instruments during intubation, with potential onset of hemorrhage and compromised airway.[]


A 65-year-old man in good health presented with altered level of consciousness, pre-clinically suspected having an acute stroke. A few days prior to admission, he had pain in his right ear. On presentation in the emergency room, he was comatose (Glasgow Coma Score [GCS]: 7) and febrile (ear temperature 39°C). Nuchal rigidity, Kernig’s and Brudzinski’s signs, and focal neurological deficits were absent. Laboratory analyses revealed a serum C-reactive protein level of >300 mg/L with normal white blood cell count and a marked metabolic acidosis (pH 7.2, lactate: 4.4 mmol/L). Cerebral computed tomography (cCT) showed liquid in the right mastoid cells (; black arrow), intracranial gas formation ( and ; white arrows), and enlarged horns of the lateral ventricles suggesting hydrocephalus (). Lumbar puncture was performed immediately followed by empirical intravenous antimicrobial therapy with ceftriaxone (2 g), vancomycin (1 g), and acyclovir (800 mg) within 35 minutes after admission. Cerebrospinal fluid (CSF) analyses revealed 1800 leucocytes/uL (mainly poly-nuclear), a marked elevation of lactate (16.6 mmol/L) and protein (7300 mg/L) and low glucose level (<0.11 mmol/L), consistent with acute bacterial meningitis. Gram stain showed gram-positive diplococci (; arrow) followed by a polymerase chain reaction detecting S pneumoniae, so anti-infectious treatment was changed to ceftriaxone (2 g twice daily) and dexamethasone (the latter for 4 days, starting 2 hours after antibiotics). As the clinical and neuro-radiological results pointed towards a per continuitatem infection from the mastoid cells, a mastoidectomy was performed.
Despite decreasing acute-phase proteins and leucocytes within three days and stabilised haemodynamic, respiratory, and metabolic situations, the patient remained deeply comatose (GCS: 4-5 with extension or flexion of the extremities following noxious stimuli) after complete weaning of sedation. On day 3, clinical observation revealed discrete intermittent clusters of myocloni of the left shoulder consistent with status epilepticus followed by a left-sided hemiplegia. Diffusion-weighted magnetic resonance imaging was performed excluding an underlying structural brain lesion. Anticonvulsive therapy was started with repetitive boli of midazolam. As status epilepticus persisted, levetiracetam was added (4 g daily). However, seizures were finally controlled with continuously administered intravenous midazolam. The postictal electroencephalogram (EEG) revealed generalised slowing of the background activity (ie, theta-delta range) and a continuous focal fronto-temporal slowing (ie, delta range) on the right with repetitive sharp waves. A repeat cCT performed on day 7 showed generalised oedema without herniation and persistent enlargement of the lateral ventricles. Placement of an external ventricular drain did not have any imediate effect on the patient’s neurological condition. Within the next week, the patient significantly improved and started to show signs of consciousness with eye opening and reaction to stimuli. Gag reflex and swallowing remained severely impaired, so tracheotomy and percutaneous endoscopic gastrostomy were performed. By the time the patient was transferred to a neurological rehabilitation, he had a GCS of 10, and the left-sided hemiparesis had resolved.


The patient is a 53-year-old woman, a registered nurse, who presented to the emergency department with a chief complaint of weakness, headache, and blurry vision. She reported a 15-pound weight loss over the past 4 months, which she attributed to nausea, anorexia, and intermittent vomiting. Serum chemistries revealed blood urea nitrogen (BUN) of 36 mg/dL and serum creatinine of 3.3 mg/dL. Electrolytes were normal as were her liver function tests. Complete blood count was normal and eosinophilia was absent. Initial urinalysis contained 3+ blood, 4+ protein, 32 RBC/HPF, 7 WBC/HPF, numerous hyaline casts, and no red blood cell casts. Renal ultrasonography demonstrated normal-size kidneys with increased echogenicity and no hydronephrosis.
Twelve months prior to admission, chemistries revealed a BUN of 25 mg/dL and serum creatinine of 0.9 mg/dL, and 18 months prior to admission, BUN was 23 mg/dL with a serum creatinine of 1.0 mg/dL.
Her past medical history included hypertension treated for the past 4 years with bisoprolol plus hydrochlorothiazide (Ziac). She had a history of pseudotumor cerebri treated with acetazolamide (Diamox). She was diagnosed with hyperlipidemia, but was not on treatment. Four years prior to admission, she underwent laparoscopic hysterectomy and sacrocolpopexy and colpoperineorrhaphy and cystoscopy. The surgery included use of RestorelleTM mesh and repair of a rectocele and enterocele. As a young adult, she underwent tonsillectomy and adenoidectomy and was involved in a motor vehicle accident with fracture of her left leg. The patient's maternal grandfather had diabetes, both parents have hypertension, and her one adult daughter is alive and well. She has no siblings. There was no history of autoimmune disease, glomerulonephritis, or chronic renal failure among her relatives. The patient had no history of international travel.
Review of system was negative for fever, chills, or night sweats. She experienced occasional palpitations and nonexertional chest pain. She described the chest pain as “acid reflux” and wondered if this caused her nausea and vomiting as well. She denied diarrhea, melena, and hematemesis. She noted trace edema and occasional foamy urine on and off for the past 6 months but no flank pain, dysuria, or visible hematuria. She denied neurologic symptoms, specifically no headache, vision changes, ataxia, or incontinence. She denied dry eyes, dry mouth, joint swelling, skin rashes, sun sensitivity, easy bruising, pleuritic pain, cough, or hemoptysis.
On physical examination, she was a well-appearing woman of Anglo-European heritage. Neurologic examination was normal. Cardiac examination revealed normal S1 and S2 and no murmur. Pulmonary examination showed clear lungs. Abdomen was benign without guarding and no bruits. No lymphadenopathy was present. She had no joint effusions or signs of arthritis. Lower extremities edema was only 1+ bilaterally.
During her hospital course, her bisoprolol and hydrochlorothiazide were discontinued and her hypertension was treated with carvedilol and amlodipine. She received intravenous fluids, but serum creatinine did not change. A 24-h urine collection contained a total volume of 1,450 mL, a total urine protein of 8,764 mg per 24 h, and total urine creatinine of 1,145 mg. Urine creatinine concentration was 79 mg/dL, with a serum creatinine of 3.5 mg/dL; thus, measured creatinine clearance was 22 mL/min.
A renal biopsy was performed and revealed a MPGN pattern. Double contours and suspected subendothelial deposits were appreciated on light microscopy. No thrombi, necrosis, or crescents were present. There was mild diffuse mononuclear cell interstitial infiltration and tubulitis noted. The interstitium had mild fibrosis. There was mild intimal thickening of the small arteries. Electron microscopy confirmed electron-dense subendothelial deposits without substructure. Since no glomeruli were present in the specimen submitted for immunofluorescence, a pronase antigen retrieval technique was used on sections prepared from the paraffin block. It revealed granular capillary wall staining with 2–3+ IgG, 2–3+ C1q, and 2–3+ kappa light chain and 1–2+ lambda light chain positivity. There was trace IgM and no IgA staining (Fig. , , ).
The patient was discharged home on carvedilol and lisinopril in lieu of the amlodipine. Before she was able to return to the renal clinic, she was readmitted 1 week after discharge for intractable nausea and vomiting. Admission blood pressure was 206/110. This was attributed to her inability to take her antihypertensive medications. Despite this, her serum creatinine improved to 3.1 mg/dL with BUN 22 mg/dL. Albumin level remained 3.4 g/dL. Urinalysis documented 3+ blood and 4+ protein as on her prior admission with numerous hyaline and granular casts per low power field. A 24-h urine collection contained a total volume of 875 mL and total urine creatinine of 744 mg. The urine creatinine concentration was 85 mg/dL. Total urine protein was 4,148 mg per 24 h. At the time of the 24-h collection, her serum creatinine was 3.7 mg/dL and creatinine clearance was 18 mL/min. Upper endoscopy demonstrated gastritis. Biopsies of the esophagus and duodenum were normal. Helicobacter pylori testing was negative. She was treated with an aggressive regimen of sucralfate, proton pump inhibitor, and H2 blocker.
Upon return to the clinic, 1 month after the biopsy, her blood pressure was reasonably controlled on lisinopril and carvedilol. Bone density was obtained and was normal. 25-hydroxyvitamin D was low at 19 ng/mL and ergocalciferol was started. By this time, a serologic search for an associated systemic disease included negative ANA, anti-double stranded DNA, HIV 1–2, anti-GBM, anti-neutrophil cytoplasmic antibodies (ELISA), and rheumatoid factor. The sedimentation rate was elevated at 75 mm/h, and repeat measurement was 111 mm/h. Complement levels were unremarkable with C3 120 mg/dL and C4 slightly high at 41 mg/dL. Serum protein immunoelectrophoresis demonstrated normal IgA, low IgG (287 mg/dL), low IgM (38 mg/dL), and no monoclonal spike. Urine protein immunoelectrophoresis was without monoclonal spike, and the kappa/lambda light chain ratio was 3.28 (normal 2.04–10.37). Hemoglobin A1c level returned at 5.8%. Treatment with antacids, Lisinopril, and carvedilol was continued, and she was instructed to start prednisone 60 mg daily.
Eight weeks after the biopsy, the patient was evaluated at a tertiary care center. She reported taking 3 doses of prednisone but stopped it completely after an episode of visible hematuria. Lisinopril was changed to irbesartan due to persistent dry cough. Laboratory values at this time included a 24-h urine collection with a total volume of 950 mL, total urine creatinine of 950 mg, and urine creatinine concentration of 100 mg/dL. Total urine protein was 2,812 mg per 24 h. A separate random urine sample for protein to creatinine ratio was 1.67 (239/143). Anti-scl-70 was negative. She was counseled to not restart prednisone.
By week 12, her blood pressure was moderately controlled at 150/90. Because of cost, irbesartan was discontinued and losartan 100 mg daily was started. Chlorthalidone 25 mg daily was added for her blood pressure control. Atorvastatin 40 mg once a day was started for hyperlipidemia. She continued on carvedilol and antacids. Examination revealed no edema.
At her tertiary clinic visit 44 weeks after the biopsy, she reported feeling well and examination revealed blood pressure of 106/70 and no edema. Laboratory testing in the clinic included serum creatinine 1.6 mg/dL, BUN 25 mg/dL, serum albumin 4.5 g/dL, and a protein to creatinine ratio of 0.06. Urinalysis registered trace blood and no protein. One week prior to this visit, micro-albumin assay contained 7.4 mg/g (normal <15 mg/g), and the protein to creatinine ratio was 0.06.
Tertiary clinic visit 82 weeks after the biopsy demonstrated well-controlled blood pressure of 117/85. Urinalysis was negative for blood, protein, cells, and casts. Remission was sustained at 92 weeks with stable serum creatinine at 1.2 mg/dL, normal serum albumin, and inactive urinalysis without proteinuria.
Her serial serum creatinine, serum albumin, and urine protein to creatinine ratio values are listed in Table .


A 75-year-old Caucasian female presented to our clinic with 5 months of decreasing central vision with floaters in her left eye status after cataract surgery. Her visual acuity at that visit was OD 20/30 and OS 20/50-2 PHNI. Her past medical history was significant for 3 recent steroid injections in her back.
Her OCT revealed a pachychoroid in both eyes, with the left eye revealing foveal subretinal fluid with shaggy photoreceptors and a small pigment epithelial detachment (Fig. ). There was no evidence of macular edema or subretinal hemorrhage on examination. Fluorescein angiography revealed an expansile dot of leakage. In concordance with the above findings, a diagnosis of CSCR secondary to her steroid injections was favored. An initial conversation of the condition, prognosis, and need for follow-up care was discussed. A course of oral spironolactone 50 mg p.o. b.i.d. was initiated for presumed CSCR secondary to her steroid injections given 1 month previously. She was advised to avoid systemic steroid use if possible and to return for follow-up in 1 month. After 1 month, subretinal fluid was regressing only slightly, so the dose was increased to 50 mg p.o. t.i.d. (Fig. ). One month later, all subretinal fluid had resolved. Visual acuity had improved to 20/20. (Fig. )
Due to improvements, the patient was slowly tapered off spironolactone to 50 mg p.o. b.i.d. with 1 month of follow-up. On the next follow-up, she continued to remain stable, so the spironolactone was tapered to 25 mg p.o. b.i.d.. On the subsequent follow-up, she was tapered to 25 mg p.o. daily with intent to stop spironolactone if continuously stable on the next follow-up. At the following follow-up she had a recurrence of subretinal fluid with an associated pigment epithelial detachment, which was also 3 weeks following another steroid injection in her back (Fig. ). Her spironolactone was increased to 50 mg p.o. b.i.d. again and the subretinal fluid regressed 2 months later. She was again tapered to 25 mg p.o. b.i.d. and maintained on this maintenance dose.
It was apparent from her debilitating back condition that she would need steroid injections in her back approximately every 6 months, so the decision was made not to further taper her dose. She was monitored every 2 months following these injections for over a year and despite getting 2 more steroid injections in this time period, she had no recurrent subretinal fluid. Given her interim stability, the decision was made to conduct a retrial of spironolactone taper to 25 mg p.o. daily. Three weeks later she presented for a nonscheduled appointment for acute metamorphopsia and had recurrent subretinal fluid with a pigment epithelial detachment. Given that this was approximately 6 months after her last steroid injection, it was thought to be related to a taper of her spironolactone maintenance dose rather than an acute response to a steroid injection as she had previously. Her spironolactone dose was increased to 25 mg p.o. b.i.d., and 1 month later her metamorphopsia and subretinal fluid had resolved. Given this recurrence and her overall tolerance of the 25 mg p.o. b.i.d. dosage, she was maintained on this dose with no recurrence for the ensuing 6 months.


Over 8 months, a 40-year-old male presented with gait instability, numbness, progressive lower extremity weakness. His neurological examination revealed reduced sensation below the T10 level, and urinary hesitancy. A magnetic resonance image (MRI) of the thoracic spine demonstrated a 3 × 1.4 × 1.5cm lesion compressing the spinal cord at the T3–T4 level []. It markedly enhanced with contrast, but showed no classical signs of a “dural tail.” It was presumed to be a spinal schwannoma.
A T3–T4 laminectomy was performed. Upon opening the dura, a reddish encapsulated tumor was observed []. Progressive debulking of the lesion showed no dural attachment, but firm adhesion of the lesion to the lateral aspect of a spinal nerve; the tumor resembled a schwannoma []. To avoid a neural deficit, a marginal resection was performed, leaving the spinal nerve intact. The postoperative course was uneventful, and the patient was discharged home on the 4th postoperative day. Fourteen months postoperatively, the patient remained asymptomatic, without any motor or radicular thoracic sensory impairment. The follow-up contrast enhanced MRI was normal, and there was no residual/recurrent tumor at the T3–T4 level [].
Histopathology of the tumor revealed proliferation of meningothelial cells characterized by round-to-oval nuclei, small nucleoli, occasional pseudoinclusions, and abundant eosinophilic cytoplasm. Cells were arranged in cords and small nests, and they appeared to grow around/intermingled with numerous blood vessels [] that were of variable calibre. There was also marked hyalinization. Histologically, the tumor was considered an AM. Meningiomas are defined as “angiomatous” (vascular) when at least 50% of the tumor mass is composed of blood vessels. Mitotic figures were not found, and special studies were not needed to confirm the meningothelial nature of the neoplasia.


A 75-year-old female with a history of stage IIIB squamous cell cancer of the cervix, which had been treated and in remission for about 2 years, presented in February 2016 with several weeks of decreased coordination and decreased balance with weakness and clumsiness noted especially on her left side in addition to a left facial droop. Magnetic resonance imaging (MRI) of her brain showed a solitary 4.6 cm × 3.4 cm × 4.1 cm heterogeneous solid mass at the right temporo-parietal junction with surrounding edema, mass effect, and early uncal herniation suggestive of either a metastasis or high-grade primary lesion [Figure and ]. Computed tomography (CT) of her abdomen and pelvis did not show any primary or metastatic lesion. The patient received dexamethasone, which improved her symptoms, and then underwent surgical resection of the tumor in March 2016. Histopathological examination of the resected tumor revealed an epithelial neoplasm with squamous differentiation and extensive keratinization. The tumor cells displayed considerable anaplasia, and mitoses were numerous [Figure and ]. There was a sharp demarcation between the tumor tissue and the surrounding compressed cerebral parenchyma, which showed gliosis and nerve fiber degeneration []. Immunohistochemical stains revealed strong positivity for cytokeratin (CK) 7 and CK5/6 [Figure and ], and also immunopositive for human papilloma virus (HPV), which was confirmed by in situ hybridization for HPV [].
Postoperative MRI [Figure and ] of her brain showed gross total resection of the lesion. The patient experienced no neurological complications postoperatively and was recovering well at the time of discharge. In April 2016, a positron emission tomography (PET)/CT scan of the patient's head, neck, chest, abdomen, and pelvis showed no evidence of recurrent or metastatic disease. The patient had a repeat MRI [Figure and ] of her head in April 2016, which showed no evidence of tumor progression and significantly improved edema around the resection area. Clinically, she was back to independent living without any neurological deficits. She was subsequently treated with stereotactic radiosurgery (SRS) to the resection cavity with a dose of 18 Gy to the 50% isodose curve.
In July 2016, the patient had a left-sided focal clonic seizure and an episode of left-sided weakness. An MRI showed a new single metastatic tumor measuring 2.3 × 3.5 cm2 noted in the right temporo-parietal area with significant surrounding edema within temporal lobe and extending into right parietal and occipital lobes [Figure –]. Given her excellent performance status and only solitary recurrence, she underwent resection of this second metastatic lesion in July 2016 with a postoperative MRI that showed successful tumor resection with residual edema causing minimal left midline shift [Figure and ], and another treatment of SRS to the resection cavity in August 2016. Another PET/CT scan of her head, neck, chest, abdomen, and pelvis was obtained; it showed small bilateral lung nodules in the right middle lobe and ligula likely of inflammatory origin but still concerning of metastases. Given the size and the imaging characteristics of the lesions, decision was made not to biopsy the lesion and obtaining repeat imaging in 6 months that reported stable nodules with no signs of progression; therefore these lesions were unlikely to be metastases. Serial repeat MRIs showed no evidence of disease progression and clinically she remained independent without any neurological symptoms. The plan for the patient is continued monitoring symptoms along with repeat MRI every 3 months.


A 55-year-old African-American female presented with constant, non-radiating, left-sided chest pain of moderate intensity for 3 days. There was no associated nausea, vomiting, palpitations and diaphoresis; however, she mentioned that it worsened with deep breathing, coughing and lying on her sides. She also reported shortness of breath on exertion. She denied fever, chills, upper respiratory infection, shortness of breath at rest and skin rash. She denied joint pain except for chronic knee pain due to osteoarthritis. She reported no sick contacts or recent travel out of the country. She had a similar episode of chest pain 5 months prior, for which she was hospitalized, but initial cardiac workup at that time were non-diagnostic and pain subsided with pain medications. Our patient reported a history of hypertension, pre-diabetes, anemia, obesity, osteoarthritis, and hypothyroidism. She did not use tobacco or alcohol. Medications included lisinopril, amlodipine, ferrous sulfate and levothyroxine. Her family history was positive for myocardial infarction and RA in her mother and hypertension in her father and mother.
Physical examination was significant for decreased breath sounds and cardiac friction rub. There was no reproducible chest pain. Routine labs were normal. Electrocardiography (ECG) and cardiac markers were normal. Endocrine labs were unrevealing. Chest X-ray (CXR) demonstrated cardiomegaly (), which was not present on X-ray 5 months prior ().
Further evaluation by CT pulmonary angiography (CTPA) revealed a large-sized pericardial effusion with mild left-sided pleural effusion ().
Echocardiography revealed ejection fraction (EF) of 66% and a moderate-sized pericardial effusion was identified circumferential to the heart (). There was no significant chamber collapse. Features were not consistent with cardiac tamponade. A left pleural effusion also was detected.
The patient was started on ibuprofen 600 mg, three times a day, colchicine 0.6 mg daily and low-dose furosemide. Based on history and unrevealing tests, autoimmune and connective tissue disease panel were collected (). Results included negative rheumatoid factor (RF), elevated erythrocyte sedimentation rate (ESR), elevated C-reactive protein (CRP) and strongly positive anti-cyclic citrullinated peptide (CCP) (laboratory reference value > 59, strong positive).
The echocardiography repeated 1 month later after treatment () revealed EF of 65% and minimal pericardial effusion. Patient’s symptoms in terms of chest pain and shortness of breath improved significantly.
Post-discharge follow-up 3 months later revealed new onset bilateral wrist pain and morning stiffness of unspecified duration. Pain was partially responsive to NSAIDs. The X-ray of the wrist revealed joint spaces were maintained. No erosive change was identified. Patient was started on prednisone 10 mg daily. She was advised to do follow-up in rheumatology clinic for early detection of erosive changes.


A 68 year old man presented with chief complaints of irritability, withdrawn behaviour and reduced sleep for the past 2 weeks followed by increased physical activity and suspiciousness against this neighbours for the past 1 week. HOPI revealed that 3 weeks back, the patient was developing withdrawn behavior, was interacting less than usual with family members, was irritable and sleeping less than usual. Two weeks later the patient started suspecting that people were keeping a close watch on his activities and would avoid going out of the house and not allow visitors in the house. There was also a history of unprovoked aggression and agitation. There was no history of muttering or holding odd postures for long hours.
There was no past history of any psychiatric illness. There was no history of any substance abuse in the patient. Premorbid personality of the patient was also not contributory. There was no family history of any psychiatric illness or any substance use or major medical illness. Past medical records revealed a history of Warthin’s tumor in 2010. Since then the patient had remained asymptomatic. There was no history of diabetes or hypertension in the patient. There was no thyroid swelling. Blood pressure was 130/86 mmHg. PR was 96/min. General physical examination was within normal limits. A formal neurological examination revealed no apparent abnormality. Uponmental status examination, patient was conscious and oriented to time, place and person. Psychomotor activity was increased. Affect was perplexed. Thinking revealed persecutory delusions. The BPRS score at the time of initial assessment was 40.
The complete blood count, electrolytes, lipid profile, blood sugar, liver and renal function tests and routine laboratory findings were within normal limits. Thyroid function, revealed decreased T3(25 ng/dl), decreased free T4 (0.7 µg/dl) and raised TSH (55 uIU/ml).The levels of auto-antibodies revealed raised levels of Thyroid peroxidase antibody (TPOAb=177 IU/mL; normally less than 35 IU/mL).CT Head and neck was normal. EEG and ECG were within normal limits.
A diagnosis of Hashimoto’s thyroiditis presenting as psychosis was made. The patient was started on Quetiapine 25 mg HS which was gradually increased to 300mg/day. The patient’s psychotic symptoms started improving in 2 days. The patient’s sleep and agitation improved initially and the persecutory delusions started resolving. In about one weeks period the patient’s delusions had resolved and became persecutory ideas which resolved in another 1-2 weeks. At one week follow up the initial BPRS had dropped down to 26. This further reduced to 9 by the 3rd week follow up. Patient was being continued on Tab Quetiapine 300 mg. Quetiapine was continued for 6 months after which it was withdrawn gradually over 2-3 months. Patient has been on monthly follow up for the last one year. He has not shown any psychotic symptoms, so there has not been any further requirement of antipsychotic treatment. An endocrinology referral had also been sought for the patient had also been given Thyroxine 100 µg and 75 µg on alternate days.
Thyroid function tests were repeated after one month. Thyroid function, revealed normal T3 (86 ng/dl), normal free T4 (1.4 µg/dl) and raised TSH (26 uIU/ml).


A 72-year-old woman underwent aortic valve replacement using a Mitroflow bioprosthetic valve (Sorin, Saluggia, Italy) 3 months previously was referred with suppurative swelling of the superior margin of the sternum. As incising the swollen area produced pus, a surgical site infection was suspected, and she was admitted. Other physical examination findings were noncontributory. Her medical history included diabetes mellitus and an autoimmune skin disease that treated with low-dose (5 mg) corticosteroid. Laboratory data revealed a white blood cell count of 6.40×109/L and slightly elevated 1.42 mg/dL C-reactive protein. The patient was diagnosed with a nonbacterial abscess because repeat bacterial cultures of the pus from her wound were negative. Following a dermatology consult, the steroid dose was increased to 20 mg because of possible exacerbation of the autoimmune cutaneous disease.
The lesion improved with steroid administration and negative pressure wound therapy, but after 2 weeks, the wound exudate became bloody. Evaluation by computed tomography (CT) angiography revealed a large pseudoaneurysm (28 mm) of the ascending aorta (). The pseudoaneurysm arose from the puncture site of the cardioplegia infusion needle, and an extrathoracic component of the thrombosed portion had partially eroded the upper margin of the sternum (). Several hours after this evaluation, the patient experienced massive bleeding from the wound and temporarily went into shock. Was suspected an ascending aortic pseudoaneurysm rupture requiring emergency rescue surgery. We speculated that the pseudoaneurysm had expanded over the superior border of the sternum. We avoided open surgery via median resternotomy because of the risk of massive hemorrhage and the time required for adhesiotomy and establishing cardiopulmonary bypass. Endovascular treatment was planned.
Preoperative CT angiography revealed the common channel of the brachiocephalic and left common carotid arteries—the “bovine aortic arch”—and the distances from the highest coronary artery to the neck of the pseudoaneurysm (13 mm), the common channel of brachiocephalic and left common carotid arteries (56 mm), and the left subclavian artery (71 mm). Even with the shortest thoracic endovascular device, a 77-mm COOK Zenith TX2 Pro-Form Extender (Cook Medical, Inc., Bloomington, IN, USA), the endoprosthesis would cover all supra-aortic vessels and ensure complete aneurysmal exclusion. Nevertheless, configuring an extra-anatomic bypass for a debranching TEVAR procedure can be time-consuming. The diameter of both femoral arteries was 5.7 mm and unsuitable as the access route for an ordinary TEVAR.
However, the diameter of the ascending aorta from the sinotubular junction to the brachiocephalic artery was 30 mm. The sinotubular junction was 30.0 mm, the mid portion was 29.3 mm, and the portion just below the brachiocephalic artery was 29.7 mm. It was thus feasible to use the aortic extension cuff from an infrarenal stent graft system as an emergent TEVAR. Based on the CT angiography findings, a bailout TEVAR procedure using a Gore Excluder Aortic Extender (W. L. Gore & Associates, Flagstaff, AZ, USA) was performed. The surgical procedure was explained to the patient and her relatives, who provided signed consent. Because of the off-label use of the endovascular device, approval of the Ethics Committee of our hospital was obtained.
The procedure was conducted under general anesthesia with the patient in a supine position. We surgically exposed the right common carotid artery (7.1 mm in diameter) and used it as the access route for endoprosthetic insertion of an 18-Fr sheath after administration of 5000 units of heparin. Cerebral perfusion was monitored by near-infrared spectroscopy, and an external perfusion shunt was placed from the right femoral artery to the right common carotid artery to maintain cerebral blood flow.
An initial attempt to advance the device to the sinotubular junction, which was the anticipated proximal landing zone failed because the device tip hit the leaflet of the bioprosthetic valve. The “J” shaped stiff wire was advanced through the sewing ring of the bioprosthesis (), and the stent graft was precisely advanced to the predetermined deploying position of the ascending aorta. This prevented damage of the previously replaced valve. The endoprosthesis completely covered the orifice of the ascending aortic pseudoaneurysm with 160 beats per minute of rapid ventricular pacing without occluding the coronary arteries or the brachiocephalic artery. Taking into consideration that the radial force of the infrarenal device is weaker than that of a thoracic endoprosthesis, and the characteristics of the ascending aorta, an aortic extender was overlaid several millimeters proximal from the first stent graft. Touch-up of the endoprosthesis was gently performed using a TMP SG Balloon Catheter (W. L. Gore & Associates) without injuring the ascending aortic wall. Angiography at completion of the procedure confirmed exclusion of the pseudoaneurysm without an endoleak.
No postoperative adverse events were observed, and the skin lesions associated with the nonbacterial abscess healed within 2 weeks. A follow-up CT angiogram at 10 days after surgery revealed complete exclusion of the pseudoaneurysm, with no evidence of endoleak ( Above). The postoperative course of the patient was uneventful at 1 year, and the pseudoaneurysm had disappeared on CT ( Below).


A 76-year-old woman was admitted to our hospital for the treatment of a right common iliac artery aneurysm. The patient had been previously diagnosed with a right-sided aortic arch with ALSA originating from KD. On physical examination, we found that her blood pressure was 112/60 mmHg in both arms, and her heart rate was regular at 90 beats per minute. Furthermore, no carotid bruits or any other abnormal findings were observed. Concomitantly, the laboratory examinations were unremarkable. Chest X-ray revealed a tortuous aorta with the absence of the left first aortic arch. While transthoracic echocardiography demonstrated no congenital anomaly, computed tomography (CT) revealed the right-sided aortic arch and KD with the maximal diameter 33 mm (). Three-dimensional CT scanning showed the proximal-to-distal order of the branches of the aortic arch to be as follows: the left common carotid artery, right common carotid artery, right subclavian artery, and ALSA originating from the KD (). Moreover, a right common iliac artery aneurysm with a maximal diameter of 48 mm could be recognized.
On the day before the scheduled surgery for iliac aneurysm, the subject complained of sudden back pain and numbness of the left arm. CT analysis revealed a retrograde type A aortic dissection and occlusion of ALSA. The false lumen had thrombosed, and an intimal tear was found in the KD (). The ascending aorta was 39 mm in maximal diameter, and the thrombosed false lumen was 10 mm thick (). ALSA originating from the KD was obstructed due to compression of the false lumen. Axillo-axillary bypass was immediately performed with an 8-mm ringed expanded polytetrafluoroethylene (ePTFE) graft, which caused the blood flow to the left arm to resume. After antihypertensive therapy for 2 months, CT showed an occlusion of the axillo-axillary bypass graft, but the false lumen was significantly diminished in size, and ALSA was well enhanced by increased antegrade flow in the true lumen. CT showed no abnormalities of the cervical and intracranial arteries and the circle of Willis. Because there was a possibility that the KD could rupture or recanalize to the false lumen, endovascular treatment was chosen to exclude the KD, including the intimal tear of the dissection. The endovascular procedure with debranching of ALSA was performed under general anesthesia in the operating room 2 months after the onset of aortic dissection. Two GORE TAG Thoracic Endoprostheses (WL Gore and Associates, Flagstaff, AZ, USA) were inserted through the left femoral artery and deployed in the descending aorta according to the diameter at the proximal and distal landing zone. A 34-mm-diameter, 200-mm-long GORE TAG® stent graft was first deployed at the distal descending thoracic aorta. Second, a 37-mm-diameter, 150-mm-long GORE TAG® stent graft was deployed at the level of the ALSA coverage. Percutaneous coil embolization of the proximal segment of ALSA was then performed to ensure exclusion of the KD through the left brachial artery. After deployment of the devices, angiography showed successful exclusion of the KD and a small type 2 endoleak. Finally, a blood pressure gradient of 13 mmHg was observed between the arms.
The patient’s post-procedure course was uneventful. Neither left arm claudication nor subclavian steal syndrome occurred. Although CT scanning revealed a small endoleak, the stent graft was correctly positioned, and the KD had been successfully excluded (). The patient was successfully discharged from the hospital on the seventh day after the treatment. Three months later, endovascular repair of the right common iliac artery was performed. At that time, the endoleak remained. However, 1 year later, follow-up CT showed that the endoleak had disappeared. The most recent scan was performed 5 years after the operation and showed neither any endoleak nor any dilatation of the KD.


A 37-year-old woman, born in September 1977, first presented to our clinic in February 2015 because of severe aggressive outbursts. She was the only child of healthy, unrelated Caucasian parents with an unremarkable family history. She was born 3 days after the due date following an uneventful pregnancy with a birth weight of 3900 g (43rd centile) and a birth length of 52 cm (55th centile). Occipitofrontal circumference and Apgar scores were not reported. Cleft palate and craniofacial dysmorphic signs were noted at birth. She had problems with swallowing. She began sitting at 9 months and walked at 18 months. Her speech development was delayed; her vocabulary consisted of only a few words (mama, papa). She pointed with her hands to indicate what she wanted.
At the age of 6 years, the patient achieved a mental age of 3 years, with an intelligence quotient (IQ) in the mild mental retardation range (IQ 50–55) on the Wechsler Intelligence Scale for Children (WISC). She was hyperkinetic, with behavioural problems that were still manageable. She attended a special school, where she coped well with the programme. She learned to ride a tricycle. She had only a few, poorly-developed, protruding teeth.
At the age of 12 years, the patient’s mental state deteriorated. She regressed to the level of severe mental retardation, achieving an IQ of 25–30 points on WISC. Her speech deteriorated and she was no longer able to speak any words. Her height was 142 cm (10th centile) and her weight was 37 kg (26th centile). She understood and carried out only very simple instructions and tasks. She disliked the company of children of her age, preferring the company of adults. Her hyperkinetic and behavioural problems increased at this time, together with auto- and heteroaggression. Left facial hypotrophy was evident, and her walk was rigid and broad-based. She was admitted to a care home for mentally handicapped children.
In May 2015, when she was last examined for this report, the patient’s aggressive outbursts were even more frequent and persistent than they had been previously. Her behaviour was unpredictable, with shouting, throwing herself on the floor, hitting her head on the floor (causing nose bleeds), refusing to eat and being aggressive towards others. Swallowing problems were still present. Computed tomography scans, before and after the application of contrast media, revealed no abnormalities in the skull or brain matter. The patient was of normal height and weight; she had sparse hair, thin, pale skin, craniofacial dysmorphism (a long and asymmetric face, short and flat philtrum, and pointed chin), oligodontia and a left periorbital dermoid cyst ().
Molecular karyotyping was performed on this patient and her parents using DNA extracted from peripheral blood leukocytes with the QIAamp® DNA Blood Midi Kit (QIAGEN, Hilden, Germany). Analysis was carried out using the BlueGnome CytoChip ISCA 8×60K platform (Illumina UK, Cambridge, UK). The protocol was performed according to the manufacturer’s instructions and data were analysed using the BlueFuse™ Multi v3.1 software tool (Illumina UK). The deletion was confirmed using a paralogue ratio test (PRT) according to a previously described protocol. For this, a pair of oligonucleotides (identification number: chr2ppn1p449839453) was selected, which coamplify a region within the deletion (chr2: 196,578,414–196,578,640; 226 base pairs [bp]) and a reference region from chromosome 17 (chr17: 58,027,459–58,027,690; 231 bp).
Molecular karyotyping in this patient revealed an 8.6 Mb interstitial deletion of the chromosomal region on the long arm of chromosome 2, between 191,711,722 bp and 200,347,340 bp (GRCh37/hg19). The deletion lies within the chromosomal bands 2q32.22q33.1 and encompassed 22 known genes listed in the Online Mendelian Inheritance in Man (OMIM) database, including the GLS, MYO1B, TMEFF2, PGAP1 and SATB2 genes. The chromosomal position of the deletion in the present case is labelled red on . Molecular karyotyping of the patient’s parents did not show any aberrations. The PRT analysis showed an ∼50% reduction in signal height for the chromosome 2 target locus (226 bp fragment) compared with the signal height from the reference 231 bp fragment from chromosome 17. Statistical analysis yielded a Z-score of 5.2 with a corresponding P-value <0.001. Thus, the PRT result confirmed the presence of copy number variation on chromosome 2 in this patient.
Ethics approval for this analysis was obtained from the Republic of Slovenia National Medical Ethics Committee (NMEC), Ljubljana, Slovenia (NMEC 89/01/11). Written informed consent was obtained from the parents of the patient for publication of this case report and its accompanying images.


The patient was a 24-year-old man with the complaint of abdominal pain and anorexia since 2 weeks earlier. The pain originated from epigastric and hypogastric regions and then radiated mainly to the right lower quadrant. 2 days after the onset of the pain, he developed fever, nausea, and vomiting 30 min after eating meal and non-bloody diarrhea. The patient was admitted to a regional hospital where he received intravenous antibiotics including ceftriaxone, metronidazole, and dexamethasone. At that center, ultrasonographic evaluation showed some fluid collection in the right lower quadrant and fullness of abdomen with gas without any clear evidence in favor of appendicitis. After few days, the patient was referred to our center because of unresponsiveness and deteriorating of the general condition.
Upon arrival, the patient complained of inability to defecate while having gas passage and vomiting immediately after eating. His laboratory results included Hb 12 g/dL, MCV 86 fL, Plt 286×103/µL, Cr 1.1 mg/dL and ESR 78 mm. He was admitted with the diagnosis of intestinal partial obstruction and another ultrasonography showed left side pleural effusion and normal abdominal findings. On plain abdominal radiography, the intestinal loops were dilated with multiple air fluid levels (). An abdominal computed tomography was requested, which revealed that the diameter of the appendix was more than 10 mm with some reactive lymph nodes, a hypodense tubular lesion 27×10 mm adjacent to the appendix and segmental dilatation of the small bowel (). Antibiotic therapy was continued and upper and lower endoscopy was performed. His upper endoscopy was normal while on colonoscopy, there was a stricture due to external pressure effect with normal mucosa 30 cm from anal verge. Rest of the exam up to the terminal ilium was normal.
As the next step, his small bowel was evaluated by single balloon enteroscopy (Olympus Co., SIF-Q180 & ST-SB). During the single balloon enteroscopy there were multiple strictures due to external pressure with normal mucosa and dilated segments interspersed between the strictures ( & ). The balloon was passed few times through the strictures and the symptoms of the patient significantly subsided thereafter with the improvement of his general condition. The vomiting stopped, and he tolerated oral diet and ESR declined to 18 mm.
After performing single balloon enteroscopy, we requested a diagnostic laparoscopy with the suggestion of cocoon peritonitis. On laparoscopic evaluation, the surgeon reported a perforated appendix with collection around it and multiple adhesion bands that enveloped different parts of the small intestine. The appendix was excised and some of the remained strictures were relieved. Antibiotic therapy continued and 5 days later the patient was discharged from the hospital with the diagnosis of cocoon peritonitis secondary to perforated appendicitis.


A 24-year-old woman referred to our hospital for endoscopic examinations. She had scattered pigmentations on fingers and lips since she was 5 years old. She had received laser therapy for these pigmentations in June 2013, October 2013, and March 2013. Her cosmetologist advised her to undergo a colonoscopy. No history of other diseases was recorded. Her father and younger brother had no similar complications. But her mother also had black pigments on her fingers and lips without any endoscopic examinations. Her mother eventually died of cholangiocarcinoma. The abdomen was not tender on physical examinations. Laboratory tests showed that red blood cell count was 4.77×1012/L, hemoglobin level was 100 g/L, and albumin level was 33.8 g/L. Other laboratory results were normal. Abdominopelvic computed tomography showed numerous polyps all over her colon (). The largest polyp almost occupied the whole colon cavity. An endoscopic resection of polyps was performed. The diameter of the largest polyp was 5 centimeters (). Histological evaluation suggested hamartomatous polyps with dysplasia. Immunohistochemistry staining test showed the following: CK-P (+), CEA (+), EMA (+), CK8/18 (+), CDX-2 (+), CerbB-2 (1+), Syn (-), Villin (+), Ki67 (+) 30%, and P53 (+) 60% (). She is being followed up without any other complaints.


A 9-year-old girl was admitted to our hospital with a 2-month history of 10–15 bouts of mucoid bloody diarrhoea per day and crampy lower abdominal pain that was relieved after defaecation. She lost weight, was fatigued and had oral aphthous lesions. Except for consanguinity, her family history was unremarkable. She was pale and growth retarded [height 120 cm (<3s%), body weight 16.2 kg (<3s%) and height standard deviation score 1.92]. Physical examination revealed aphthous lesions on the gingiva, an anal fissure, hyperaemic perianal skin tags, and increased bowel sounds. Laboratory data (with their normal range in parentheses) were: haemoglobin level (Hb) 8.2 g/dl (10.9–13.3 g/dl), mean corpuscular volume 62.9 fl (77–95 fl), platelet count 646,000/mm3 (183,000–369,000/mm3), white blood cell count 25,400/mm3 (4,700–10,300/mm3), C-reactive protein level (CRP) 9.2 mg/dl (<0.1 mg/dl), erythrocyte sedimentation rate (ESR) 48 mm/h (0–20 mm/h), serum albumin level 2.8 g/dl (3.7–5.6 g/dl) and protein level 4.8 g/dl (5.9–8 g/dl). Leucocytes and erythrocytes were found in the stool, but no enteric pathogens were seen. The endoscopic and histopathological findings of the colon and terminal ileum were compatible with CD. She was put on prednisolone (2 mg/kg/day). Her complaints resolved, and laboratory tests improved during the second week. After 4 weeks of steroid treatment, mesalamine was added for the first time, and the steroid was tapered by 5 mg/week. The day after stopping prednisolone, while taking only mesalamine, she had a fever (38.5°C), abdominal pain, nausea and bloody mucoid diarrhoea (8–9 times per day). Her physical examination was normal except for the anal fissure. Laboratory tests showed a platelet count of 546,000/mm3, white blood cell count of 12,500/mm3, ESR of 45 mm/h and a CRP level of 8.6 mg/dl; gross blood and mucus were seen in the stool, but bacterial pathogens and parasites were negative. Urine, throat and blood cultures, viral markers, and Toxoplasma, Brucella and Salmonella were negative, ruling out acute infection. This clinical picture was compatible with an acute exacerbation of the disease. She was given her first dosage of infliximab (5 mg/kg) because of the serious side effects caused by the steroid treatment. Broad-spectrum antibiotic treatment was begun. However, her fever persisted and increased to 39.9°C with shivering and did not differ between day and night; there were frequent bowel movements (20–22/day) with blood and mucus and increased inflammatory serological markers. At that point, mesalamine was thought to be the cause of the fever, mimicking CD, and the drug was discontinued. Her temperature normalised, and the frequency of bowel movement decreased to 3–4/day within 36 h. Three days after stopping the mesalamine treatment, she had no more complaints. The inflammatory markers decreased significantly within 1 week. She was put on azathioprine, and no exacerbation was observed during the 2-year follow-up period.


A 14-year-old girl was admitted to our hospital with a 1-month history of crampy abdominal pain, abdominal distension, swelling of the legs and eyelids, and weight loss (8 kg/month). Her medical and family histories were unremarkable. She was well developed [height 160 cm (50–75s%), body weight 41 kg (3–10s%)] but pale. She had ascites and pretibial oedema. Laboratory tests (with their normal range in parentheses) were: Hb 10.5 g/dl (12–16 g/dl), mean corpuscular volume 75.4 fl (77–95 fl), thrombocytosis 608,000/mm3 (185,000–335,000/mm3), hypo-albuminaemia 1.7 g/dl (3.7–5.6 g/dl), hypoproteinaemia 3.4 g/dl (5.9–8 g/dl) and a high CRP level of 3.39 mg/dl (<0.1 mg/dl). The ESR and stool examination were normal; occult blood in the stool was negative. Urinalysis was normal, and gastrointestinal protein loss was thought to be the cause of the hypoproteinaemia. Ileocolonoscopy revealed normal mucosa, except for an area of focal swelling in the caecum of approximately 1 × 1 cm. Histopathologically, mild active ileitis, focal active colitis, focal cryptitis in the caecum and mild active colitis with focal erosions in the other parts of the colon were documented. Based on the clinical, laboratory and histopathological findings, CD was diagnosed, and prednisolone treatment (60 mg/day) was administered. On corticosteroid treatment, she had no complaints; the ascites and pretibial oedema resolved; the albumin levels increased (3.1 g/dl), and the CRP normalised. Mesalamine was added to the steroid treatment for the first time after 1 month of therapy, and the steroid was tapered by 5 mg/week. While she was taking 20 mg/day prednisolone and 50 mg/kg/day mesalamine, laboratory tests revealed recurrence of anaemia (Hb: 9.4 g/dl), hypo-albuminemia (2.8 g/dl) and elevated ESR (68 mm/h) and CRP level (2.6 mg/dl), although she had no complaints. It was thought to be mesalamine intolerance, and thus the mesalamine was stopped, while the steroid was continued at 20 mg/day. After 7 days, the ESR (21 mm/h) and CRP level (0.42 mg/dl) had decreased markedly, while the albumin level (3.1 mg/dl) had increased slightly. Azathioprine treatment was begun (100 mg/day), and the steroid was tapered again. During the subsequent 20 months, on azathioprine only, she remained asymptomatic with Hb, albumin, ESR and CRP levels in the normal ranges.


A 7-year-old girl was admitted to our hospital with a 15-day history of anorexia, weight loss (3.5–4 kg/month), abdominal pain, 10–15 bloody, mucoid bowel movements per day, recurrent high fever (39–40°C) and joint pain. Except consanguinity, her family history was unremarkable. She was growth retarded: height 100 cm (<3s%), body weight 13.2 kg (<3s%), height standard deviation score −3.6 and pale. Physical examination revealed clubbed fingers, perianal skin tags, and increased bowel sounds. Laboratory tests (with their normal range in parentheses) were: Hb 8.8 g/dl (10.9–13.3 g/dl), mean corpuscular volume 69.5 fl (77–95 fl), thrombocytosis 716,000/mm3 (183,000–369,000/mm3), high CRP 2.69 mg/dl (<0.1 mg/dl) and ESR 58 mm/h (0–20 mm/h). Stool examination revealed leucocytes and erythrocytes but was negative for enteric pathogens. The endoscopic and histopathological findings of the ileum and colon were compatible with CD. Prednisolone (2 mg/kg/day) was begun, and under corticosteroid treatment, she had no complaints, and inflammatory markers decreased. Mesalamine was added for the first time in the third week of corticosteroid treatment. After 4 weeks, the corticosteroid was tapered by 2.5 mg/week. The patient complained of bloody mucoid diarrhoea and abdominal pain while on mesalamine and steroid (20 mg/day) treatments. Laboratory tests revealed thrombocytosis of 464,000/mm3 and a high CRP of 2.24 mg/dl. This was thought to be mesalamine intolerance, and the mesalamine was stopped. After 3 days, all symptoms and signs had resolved. Azathioprine treatment was begun and the steroid treatment tapered off. She has remained asymptomatic on azathioprine for 9 months of follow-up.


A 17-year-old female patient presented to us with the chief complaints of backache with abdominal pain and abdominal distension for 5 months, sudden onset paraplegia and bladder and bowel incontinence for 1 day. On examination of spine, local tenderness was present at D9–D10 level. The patient had spastic paraplegia with bilateral exaggerated knee and ankle reflexes and bilateral extensor plantar reflex associated with clonus and reduction in sensation of all modalities below D10 dermatome.
She had a history of left ovarian GCT for which she was operated 25 days before. The patient underwent staging laparotomy. Large left-sided ovarian mass 30 cm × 25 cm filling entire abdominal cavity extending into liver, spleen, and lateral parities. Left lateral salpingo-oophorectomy was done with omental and peritoneal biopsy. Histopathology report revealed mixed GCT with predominant component of yolk sac tumor involving ovarian capsule and showed diffuse areas of necrosis and moderate nuclear pleomorphism suggestive of mature teratoma. The patient had raised levels of tumor markers such as lactate dehydrogenase (LDH), alpha-fetoprotein (AFP) (37,800 ng/ml), carcinoembryonic antigen (CEA) (29.1 ng/ml), CA-125 (259.35 U/ml) preoperative with normal levels of beta-human chorionic gonadotropin (β-HCG). The serum levels of CEA (5.2 ng/ml) decreased after surgery to normal while levels of AFP (22,500 ng/ml) and CA-125 (161.2 U/ml) decreased substantially postoperatively. The patient was advised chemotherapy in the postoperative period.
The patient was evaluated for severe backache and sudden onset paraplegia with urinary retention. Magnetic resonance imaging spine showed multiple D6–D8 level vertebral metastasis and extradural compression suggestive of compressive myelopathy [–]. Contrast-enhanced computed tomography (CECT) scan of the abdomen showed retroperitoneal lymphadenopathy with mild ascites. CECT spine revealed lytic destruction and partial collapse of D9 vertebral body and bilateral paravertebral soft-tissue lesions (D6–D8) with the erosion of D7 vertebral body suggestive of metastasis. She underwent urgent decompressive spinal surgery after consent. D6–D9 laminectomy with decompression of tumor was done, with frozen section suggestive of poorly differentiated carcinoma. Grossly, tumor was bluish black, soft, suckable present in the extradural region of D6–D8 and was adhered to the underlying dura. The final histopathology report of the tumor was consistent with mixed GCT, having Schiller–Duval bodies and few hyaline globules. Tumor cells were positive for CD117 and focally positive for AFP, which was consistent with yolk sac tumor. The patient received adjuvant postoperative chemoradiotherapy [Figures and , ]. Now, the patient is in partial remission, and neurological symptoms are appropriately decreased.


A 45-year-old African American female, gravida 4, para 2, presented with a 5-month history of menometrorrhagia. She has denied any hormonal therapy in the past, her Pap smear was up-to-date and normal, and there was no history of sexually transmitted diseases. She was not pregnant and denied any significant current or past medical conditions. The rest of her history and system review was within normal limits.
There was no abnormalities detected in the general and systematic examination. The gynecologic examination revealed a well-circumscribed submucosal mass that was about 4 cm in size, involving the anterior lip of the cervix which was clinically consistent with a cervical fibroid. The uterus was enlarged, 15–16 weeks in size, with irregular contour that was consistent with multiple uterine fibroids.
Transvaginal ultrasound examination revealed multiple uterine fibroids, the largest being 4 × 5 cm. An endometrial biopsy revealed a proliferative endometrium with no hyperplasia or malignancy identified.
The patient underwent a total abdominal hysterectomy which was uneventful. The uterus submitted to the Department of Pathology for intraoperative consultation, to evaluate the cervical lesion as well as for a subsequent full pathological evaluation. The patient postoperative course was also deemed uneventful.
The specimen was fixed in formalin 10% and embedded in paraffin. The slides were stained with hematoxylin and eosin. Immunohistochemistry was done for desmin (clone DE-R-11), α-SMA (clone 1A4), CD99 (clone O13), and CD34 (clone QBEnd/10) per standard procedures on the Ventana Benchmark Ultra machine.
Gross examination showed a 3.8 × 2.5 × 2.5 cm pink-tan-circumscribed submucosal mass involving the anterior lip of cervix. The cut surfaces were homogeneous pink to tan and soft to firm, without any necrosis, induration, or infiltration ().
Microscopic examination revealed a well-circumscribed, un-encapsulated tumor, composed of ovoid, stellate to spindle-shaped cells often with a wavy bland nuclei in an edematous, variably collagenized, hyalinized, and vascularized stroma. The vessels ranged from thick-walled vessels to capillaries, some of which were irregularly stag-horn shaped (). There was a small quantity of smooth muscle cells that were randomly intermixed. There was no mitotic activity or necrosis identified ( and ).
An immunohistochemical analysis showed diffuse positivity for desmin in spindle and stellate lesional cells (). Staining with CD34 was positive in a large subset of spindle and stellate cells (). Alpha-SMA staining was positive in a small subset of cells (internal control staining of vessels and smooth muscle cells noted; ). CD99 staining was non-contributory (weakly positive in some cells; most of the section washed off even on repeat stain; data not shown). Two age-matched and site-matched (anterior) non-neoplastic cervix sections from unrelated cases were used as controls ().


A 2-year-old male child from Villupuram, Tamil Nadu, was referred to us for a clinical suspicion of renal stones. The child was developmentally normal for age. Poor weight gain was reported by the parents, while there was no history of diarrhea, polyuria, polydipsia, pallor, dysuria, recurrent respiratory tract infections, or anorexia. He was born to third-degree consanguineous Tamil parents. At birth, he weighed 3.5 kg and his perinatal history was uneventful. He was immunized according to the age. At the age of 24 months, he weighed 9.7 kg (−1–−2 standard deviation [SD]), height 71 cm (−2–−3 SD), head circumference 46 cm, and vital signs and blood pressure (93/62 mmHg) being normal. No pallor, icterus, clubbing, edema, rickets, or lymphadenopathy was noted. Cardiovascular, abdominal, central nervous system and chest examinations were normal. No renal masses were appreciable. The abdominal X-ray showed nephrocalcinosis [].
He was fourth in birth order. His elder sister died at 9 years of age as a result of end-stage renal disease due to nephrocalcinosis. She had persistent vomiting at 3 months of age. She was admitted to another hospital where renal stones and high urinary oxalate levels (80 mg/24 h) were detected. A therapy based on potassium citrate and pyridoxine was suggested (at the age of 4 months), but was administered to the child only for 1 year, and then discontinued by the parents. At 8 years of age, she was found to have urinary tract infection and high serum creatinine levels (8.2 mg/dl). She was then kept on biweekly dialysis for 3 months and died at 9 years of age at home. No genetic testing was performed.
The two other siblings, aged 6 and 4 years, were healthy and did not have nephrocalcinosis, deranged renal function, or high urinary oxalate levels. Their parents were healthy; no further cases of nephrolithiasis were reported in the family.
In view of the family history and presence of nephrocalcinosis on abdominal X-ray, the child was investigated further: 24 h urinary oxalate level was high (75.7 mg/24 h), blood urea 32 mg/dl, serum creatinine 0.4 mg/dl (estimated glomerular filtration rate 80 mL/min/1.73 m2), serum calcium 9.2 mg/dl, phosphate 4.0 mg/dl, sodium 136 mEq/L, potassium 3.8 mEq/L, and hemoglobin 9.7 g/dl. The spot urine calcium: Creatinine ratio was 0.1 (normal for age). Venous blood gas analysis showed serum bicarbonate level 22 mEq/L. Renal ultrasonography showed medullary nephrocalcinosis.
The entire coding region of the AGXT gene (RefSeq NM_000030 2, Gene ID: 189) was amplified by polymerase chain reaction from genomic DNA extracted from blood. Analysis of the AGXT gene by means of Sanger sequencing[] revealed the presence of two single nucleotide substitutions in homozygous state: a transversion from C to G (c. 32C>G) in exon 1 resulting in the missense substitution p. Pro11Arg and a transversion from T to A (c. 167T>A) in exon 2 resulting in the missense substitution p. Ile56Asn []. Both variants have previously been reported and are classified as pathogenic. The other polymorphic sites of the gene were found in homozygosis and corresponded to the major haplotype.[] Following the current nomenclature,[] the AGXT gene mutations detected in this patient are described as: c.[32C>G; 167T>A];[32C>G; 167T>A] at the DNA level and p.[Pro11Arg; Ile56Asn];[Pro11Arg; Ile56Asn] at the protein level. Thus, the diagnosis of PH Type 1 was confirmed. Genetic testing of the parents was advised but not performed since they did not agree to undergo any further analysis.
The patient was treated with potassium citrate (0.5 mEq/kg/day) along with pyridoxine (5 mg/kg/day). He was advised to increase fluid intake to 3 L/m2/day, avoid oxalate-rich foods (such as tomato, spinach, and beetroot,), and take a low salt diet.


A 47-year-old man presented with two painless masses on his right great toe. The bigger mass was noticed 5 years before presentation, while the smaller distal mass was a year old. Masses had grown gradually in size and now affected his gait and prevented him from wearing shoes. On examination, he had two masses in the lateral side on the planter aspect of the right great toe (). The proximal mass was bigger and was about 13 cm × 8 cm in size. It was globular, felt cystic but tense. It extended proximally into the web space and had caused separation of the great toe from the other toes. The distal mass was about 2.5 cm in diameter and was less tense. It slipped away when digital pressure was applied on its edge and was nearly completely reducible into the proximal bigger mass suggesting a common origin. They were both free from the skin and underlying tissue and transilluminated positively. He had no other masses on his body and no abnormal skin pigmentations. The neurovascular examination was normal and his inguinal lymph nodes were not enlarged.
A presumptive clinical diagnosis of lipoma was made to rule out neurofibromatosis and liposarcoma. Plain radiographs of the foot revealed soft tissue shadows and normal underlying bone. MRI could not be done because it was not available. He was managed with a marginal local excision using a longitudinal incision after a digital block with application of a tourniquet. A single, well-encapsulated multi-lobulated mass with typical visual features of lipoma extended to the web space (). It was uniformly soft and free from the skin, underlying fascia, tendon sheath, and bone. The redundant planter skin was trimmed and the toe refashioned. He had an uneventful post-operative period. Histology showed mature fat cells and confirmed lipoma. He required no further treatment, and he has been followed up for 2 years without recurrence.


A 25-year-old male presented with a swelling of the left submandibular gland for 2 weeks. The swelling was nontender, 1 cm × 1 cm and soft to firm in consistency []. The clinical differential diagnoses proposed were chronic sialadenitis, tuberculosis and salivary gland neoplasm. FNAC was done using 22-gauge needle and 20 mL syringe. Aspiration yielded fluid with granular particles. The smears were air dried as well as wet fixed in 95% ethanol and stained with May–Grunwald–Giemsa and hematoxylin and eosin, respectively. On cytology, fragments were seen as bluish fibrillary material corresponding to the parenchyma of the parasite with interspersed small nuclei [Figures –]. A fair number of lymphocytes, eosinophils, neutrophils palisading histiocytes and degenerated cells in dirty necrotic granular background were noted []. A diagnosis of parasitic infection, cysticercosis of submandibular gland, was made. The patient was recommended antihelminthic therapy which resulted in complete resolution of the swelling.


On February 2016, a 49-year-old Caucasian woman with SLE was referred to our Rheumatology Department for cognitive dysfunction, neurological disturbances and worsening of renal function. Fifteen years before she was diagnosed with SLE on the basis of polyarthritis, photosensitivity, malar rash, leukopenia, antinuclear antibodies positive and low C3 and C4 complement fractions. She also had secondary Sjogren’s syndrome, hypertension, tobacco addiction and steroids-induced Cushing’s syndrome. On June 2015, she was admitted to another hospital for acute vomiting, left facial nerve palsy and ataxia. She was diagnosed with NPSLE and basal ganglia calcification () and then treated with 1 g methylprednisolone (MPRE) pulses for 5 consecutive days followed by prednisolone (PRE) 60 mg/daily and hydroxychloroquine 400 mg/daily, with relapse during PRE dose reduction when reaching the 7.5 mg/day dosage.
On admission to our department, her husband reported that she had a progressive worsening of neurological disturbances in the last 6 weeks. On neurological examination, she had severe cognitive dysfunction in simple and complex attention, reasoning, problem solving and memory, being even unable to recall her age and the exact date. Bilateral nystagmus, diplopia, dysarthria, lower-limb ataxia and bilateral sixth and left seventh cranial nerve palsies were found. She also had weakness in the right side of her body, lower limbs sensory loss and hyperreactive deep tendon reflexes with left foot dorsiflexion deficit. Meningeal signs were absent. Blood pressure was 120/70 mmHg. Alopecia and bilateral Jaccoud arthropathy were also present. Blood tests showed anemia (hemoglobin 8.4 g/dL) with no hemolysis, erythrocyte sedimentation rate 81 mm/h, C-reactive-protein 38 mg/dL (normal range 0–1 mg/dL), antinuclear antibodies 1:160 homogenous pattern, anti-dsDNA 2.4 UI/L (<7 UI/L by Farr), C3 72 mg/dL (90–180 mg/dL), C4 11 mg/dL (10–40 mg/dL) and anti-Ro/SSA positive. Serum creatinine was 2 mg/dL, and glomerular filtration rate was 31 mL/min with proteinuria of 0.6 g/day but no active urinary sediment. Blood glucose, liver function tests, electrolytes, copper, ceruloplasmin, B12 vitamin and folate serum levels were within normal range. Serum anti-aquaporin-4, anti-glutamic acid decarboxylase, anti-N-methyl-d-aspartate receptor, anti-γ-aminobutyric acid receptor, anti-voltage-gated potassium channels and anti-AMPA receptor autoantibodies were negative. Cerebral spinal fluid (CSF) analysis revealed increased protein content (46.8 mg/dL) and pleocytosis (10 lymphocytes) with neither intrathecal IgG synthesis nor oligoclonal bands. Blood and CSF microbiological stains and cultures for bacteria, fungi and mycobacteria were negative. Blood and CSF search for CMV, VZV, HSV and JCV DNA as well as Borrelia burgdorferi, Treponema pallidum, Rickettsia and Brucella serological tests were negative. Screening for malignancies was negative. Electroencephalogram and visual and somatosensory evoked potentials were normal. Electromyography revealed left common peroneal nerve and bilateral sural nerves motor and sensory conduction abnormalities, diagnosed as multiple mononeuritis. Brain magnetic resonance imaging (MRI) confirmed basal ganglia calcifications and showed a dramatic increase in the number and size of previous white matter (WM) lesions () with hyperintensity on diffusion-weighted images and enhanced apparent diffusion coefficient suggesting vasogenic edema ().
She was diagnosed with active SLE and severe neurological impairment classifiable as demyelinating syndrome (DS) according to 1999 ACR nomenclature and case definition for NPSLE and according to the NPSLE attribution algorithm. She was treated with 500 mg MPRE pulses for 3 consecutive days, followed by 500 mg CYC one single pulse and RTX 1 g, which was then repeated 14 days later according to previously described regimen. After the second dose of RTX, oral PRE 25 mg/day, rapidly tapered to 7.5 mg/day in 6 months, and mycophenolate mofetil (MMF) 2 g/day were prescribed as maintenance therapy, but she could tolerate only 1 g/day because of diarrheal symptoms. Since the beginning of treatment, she experienced progressive improvement in nystagmus, diplopia, dysarthria, cranial nerve palsies and multiple mononeuritis, which had completely disappeared at the 3-month follow-up visit. Ataxia disappeared within 6 months, while cognitive dysfunction, albeit greatly improved, showed incomplete resolution after 1 year of follow-up. Follow-up MRI revealed remarkable reduction in number and size of WM lesions ( and ).


A 4-year-old domestic shorthair male neutered cat was referred to the internal medicine service of Centre Hospitalier Vétérinaire Fregis (France) for chronic intermittent haematochezia and faecal incontinence of 7 months’ duration. No weight loss was reported and the cat had a good appetite. Therapeutic trials with fenbendazole (50 mg/kg PO for 5 days), metronidazole (10–15 mg/kg PO q12h for 10 days) and hyperdigestible gastrointestinal diet (Hill’s prescription diet i/d) were unsuccessful.
Physical examination, complete blood cell count and biochemistry panel (including serum folate and cobalamin concentration) were within normal limits.
Faecal sample for parasites by using direct smear evaluation, zinc sulfate centrifugal flotation techniques and PCR for Tritrichomonas and Giardia species were negative. Abdominal ultrasonography revealed a colonic wall thickening (2.5–3.0 mm) with attenuation of wall layering and hypo- to echoic multifocal nodules (2 mm diameter) in the submucosal layer. Colonoscopy showed an irregular and thickened colonic wall with multiple erosions, compatible with ulcerative colitis or infiltrative neoplasia (). Colonic endoscopic biopsy samples were collected.
Biopsies were fixed in 4% saline-buffered formalin and embedded in paraffin wax. Sections of 4–5 μm were stained with haematoxylin and eosin, PAS, Toluidine blue and Fite-Faraco, and submitted for routine histopathological examination. Histopathology revealed severe multifocal mucosal ulcerations and infiltration of the mucosal lamina propria by large numbers of macrophages, with scattered small lymphocytes and plasma cells (). The macrophages had abundant eosinophilic granular cytoplasm that was strongly PAS+. Toluidine blue and Fite-Faraco stains did not show mast cell infiltration or acid-fast bacteria, respectively. Histological findings were consistent with severe PAS+ GC similar to that documented in Boxers and French Bulldogs.
FISH analysis of colonic biopsies using eubacterial (EUB338-6FAM) and E coli-specific probes (E coli–Cy3) and a previously described technique revealed multi-focal clusters of intracellular E coli (). More bacteria were visible with eubacterial vs E coli probes suggesting the possibility of a mixed infection.
Colonic swab culture was positive for E coli and negative for Salmonella species, Yersinia species and Campylobacter species. Antimicrobial susceptibility profiles of E coli isolates showed broad susceptibility to macrophage-penetrating antimicrobials (). Treatment with enrofloxacin (5 mg/kg q24h for 6 weeks) led to progressive and complete resolution of clinical signs with remission sustained for 13 months to date.


A 72-year-old male patient presented with a history of systemic hypertension, diabetes mellitus, and hypercholesterolemia. The patient had been receiving metformin, enalapril, and simvastatin due to these complaints for the last 10 years. In addition, the patient had been receiving enoxaparin sodium therapy for pulmonary venous thrombosis for the last 1 week (80 mg subcutaneously every 12 h). Five days after the initiation of the enoxaparin therapy, the patient developed multiple asymptomatic hemorrhagic vesico-bullous lesions on the right leg and right arm []. No hemorrhage was seen in any other part of the body and no lesions were detected in the sites of enoxaparin injections. Laboratory tests including whole blood count and biochemical and coagulation parameters (activated partial thromboplastin time, prothrombin time, international normalized ratio) and fibrinogen were normal. A punch biopsy was performed in the intact hemorrhagic bullous lesion on the right leg. Histopathologic examination revealed an intra-epidermal bulla filled with red blood cells. No vasculitic signs were detected []. Depending on the clinical and histopathologic findings, the patient was diagnosed as bullous hemorrhagic dermatosis induced by enoxaparin. The lesions resolved 1 week after the termination of the enoxaparin therapy.


A 41-year-old male with a stubborn, single plantar wart on his right styloid process which had been present for over a year and had failed to respond to treatment with cryosurgery (Fig. ). The lesion was described as painful when standing. The lesion measured 10 by 10 mm, and the patient rated the pain level as an 8 out of 10 (numeric rating scale) at the initial assessment. He had no significant past medical or medication history. Following a discussion with the patient about the various options available, the patient consented for treatment using microwave energy. After gentle reduction of the hyperkeratotic skin overlying the lesion, microwave energy was applied using the Swift S800 Microwave Device (Emblation Medical Ltd, Alloa, UK). Device settings were programmed to deliver 50 J (10 W for 5 s). Microwaves were delivered without topical or local anaesthetic to the verruca through an applicator applied directly onto the surface of the lesion. After intervention, no dressing was required, and the patient was able to mobilise freely. After 3 weeks, the patient was reviewed. The treated area demonstrated large amounts of bruising (Fig. ). Pain measurement was recorded as 2 out of 10 (NRS), corresponding to a 75% improvement compared to pre-operative levels. Interestingly, the patient noted that pain had reduced almost immediately following the first microwave ablation. A second treatment of 50 J was administered to the same area under the same settings. Two weeks later, the lesion was almost completely resolved (Fig. ) and pain score assessment was 0 out of 10 (NRS). At 6-month follow-up, the lesion remained fully resolved (Fig. ).