Diffuse alveolar haemorrhage (DAH) is a rare complication of systemic lupus erythematosus (SLE), which can have a potentially lethal outcome. Conventional treatments of the condition include cyclophosphamide and intravenous immunoglobulins. Successful treatment with rituximab and plasmapheresis has also been described. The authors report the case of a woman recently diagnosed with SLE who developed DAH refractory to conventional treatment while on immunosuppressive treatment for class III lupus nephritis whose DAH responded to plasmapheresis.
In this report, an 8-year-old girl is presented with the complaint of progressive night blindness. The authors have performed eye funduscopy, which showed chorioretinal atrophy in gyrate shape. A high level of plasma ornithine was determined. Urinary excretion of ornithine as well as lysine and cystine were increased. Patient was treated with high dose pyridoxine supplement (500 mg/dl). The night blindness condition of the patient improved. After 1 month of pyridoxine therapy ornithine level of her plasma was successfully reduced and blindness improved.
Mr K is an 89-year-old married man with a number of comorbid conditions and multiple recent falls. He was referred to the IMPACT clinic (Interprofessional Model of Practice for Aging and Complex Treatments) as his primary care physician was concerned about his declining health and the growing care giver burden on his wife. Mr K’s condition was deteriorating while the complexity of his case was increasing; therefore, an in-depth team assessment was sought to determine the best management plan and to assess his capacity to remain at home (his expressed preference). The IMPACT team met with Mr K and his wife for a 2 h interprofessional assessment. A comprehensive care plan was developed including specific recommendations for implementing change. After the visit to the IMPACT clinic, Mr K’s care was returned to his regular family physician.
A healthy 18-month-old girl presented with a history of intermittent hemifacial flushing when eating. Her symptom seemed to be exclusively triggered by chewing. Examination revealed cutaneous features of neurofibromatosis type 1 (NF1) and mild facial asymmetry. Imaging confirmed cerebral vacuolisation changes seen in NF1 and a left facial plexiform neurofibroma involving the parotid gland. This is the first reported case of Frey syndrome complicating NF1.
Enterocutaneous fistulae (ECF) are challenging problem commonly encountered by surgeons and cause significant complications. They not only prolong hospital stay, but also restrict a patient’s activities of daily living. The authors report a case of successful treatment of multiple intractable ECF in a patient with decreased coagulation factor XIII (FXIII) activity using intravenous FXIII treatment. A 74-year-old man with multiple ECF was referred. Although no factors involved in impaired wound were initially identified, he developed ECF after multiple surgical interventions with repeated wound dehiscence. FXIII activity was below the normal value. A definitive operation was performed and FXIII was administrated for 5 days postoperatively. There was no fistula recurrence and no other complications. Preoperative assessment of factors related to wound repair, such as FXIII activity, may be important for patients with wound dehiscence and subsequent fistula development and should be considered in patients who are resistant to standard treatments.
Facial injuries can impair a patient’s ability to eat, speak and interact with others. Severe injuries occur as a result of interpersonal or domestic violence, or in motor vehicle collisions, including those involving motorcycles and all-terrain vehicles. The authors present a case of LeFort II fracture caused by a collision of opponents while heading the ball in a football match.
A healthy 27-year-old woman presented to an outside institution with unilateral nipple pruritus and a slight brown discolouration. When her symptoms failed to respond to topical therapy, nipple biopsy revealed Paget’s disease of the nipple. The patient sought further evaluation and care at our institution. Further investigation revealed multifocal breast cancer and the patient underwent bilateral mastectomies with sentinel lymph node biopsy followed by adjuvant systemic therapy. She is currently more than 4 years out from surgery and chemotherapy and has had no evidence of breast cancer recurrence.
This report describes a 26-year-old man who was so emotionally attached to his mother that the mere thought of separating from her caused immense anxiety. The death of his mother after a brief illness resulted in prolonged bereavement. However, the patient started seeing and talking to his mother after her death, which led to huge improvement in his mood and social functioning. His wife brought him in for consultation but no obvious psychopathology was detected. This gave rise to the dilemma of whether to consider this a real psychopathology and treat it, or to disregard this reported hallucination. No active treatment is being given to this patient at the moment.
Groin lump secondary to avulsion fracture of the adductor muscles of the middle thigh in the absence of any hernia is rare. The authors discuss a case of a young footballer who presented with a painful groin swelling. Surgical exploration revealed that the cause of the lump was an avulsion fracture of the adductor muscles.
Orbital metastasis is very infrequent in breast cancer; more so as an initial and sole presenting feature. The authors report a case of orbital metastasis of occult breast carcinoma in a 46-year-old woman, who presented with unilateral orbital pain and eyelid swelling. This was initially diagnosed as orbital pseudotumour and treated with steroids. The development of breast symptoms and finding of breast nodule, 3 months later, led to the diagnosis of invasive lobular carcinoma of the breast with orbital metastases, confirmed on biopsy.
This is a case of a 21-year-old lady who presented with history of episodes where she would display extraordinary strength while becoming aggressive towards her family members, speak in foreign language and display bizarre behaviour. The episode would last for 15–20 min and would resolve spontaneously. She would always claim amnesia for the event. This would remain irritable in the intervening period. The frequency of such episodes is at least three times a week. The family members took her to several faith healers with no improvement in her condition. On the suggestion of a family friend, the patient was brought in for consultation in the psychiatric clinic. The patient remained a diagnostic dilemma though there has been some reduction in intensity of such episodes on psychotropic medication. Unfortunately, there is no remission in episodes.
Ewing's sarcoma is the second most common malignant bone tumour of childhood and adolescence. It may affect any bone, but it is frequent in the femur, ilium and the tibia. Here the authors are reporting a case of Ewing's sarcoma involving scapula in a 14-year-old boy presenting with pain and swelling around the shoulder. Swelling was removed which on histopathological examination showed solid sheets closely packed, poorly differentiated small cells that have a high nuclear-cytoplasmic ratio, fine chromatin and small nucleoli. A tentative diagnosis of Ewing's sarcoma was made which was confirmed by immunohistochemistry.
A male infant was born by emergency caesarean section at 34+4 weeks for failed induction of labour. Shortly after birth a depression about the same size as the baby's fist was noted over the right parietal region. After careful consideration of the perinatal history and examination findings, the baby was diagnosed with faulty fetal packing. At 3-month follow–up, the defect had completely corrected without intervention.
The incidence of falciparum malaria is very high in India. Falciparum malaria is a multiorgan disease which can present with extremely varied presentations. The severity of the disease and difficulty in its diagnosis require a keen sense of suspicion on the part of the treating physician to diagnose it. Here is an unusual case of falciparum malaria presenting as acute appendicitis. This case did not respond to artemether therapy and that also points towards drug resistance emerging in malaria. The child was operated upon and appendix was found to be inflamed. After a tumultuous postoperative course with symptoms suggestive of acute renal failure, a diagnosis of falciparum malaria was made and quinine started. Recovery was uneventful thereafter.
This is a case of a 22-year-old male who was born with a port-wine stain on right side of his face, developed seizures at the age of 2, was not able to complete formal education in a school. MRI revealed intracranial calcification and left-sided brain atrophy. He had diagnosis of Sturge–Weber syndrome. Since the time of adolescence, he developed psychiatric problems and hence was treated with psychotropic medications. This case remains under the domain of psychiatry as well as neurology and calls for joint management. A number of presentations with Sturge–Weber syndrome have been reported in the literature that poses problems in terms of appropriate medical management. A classical syndrome like this invites serious attention of both psychiatrists and neurologists to devise appropriate drug treatment with a view of interactions, side effects, complications and prognosis.
Giant cell tumour (GCT) or osteoclastoma is a benign locally aggressive tumour with a tendency for local recurrence. 85–90% of cases occur in long bones; the sites most commonly affected being lower end of femur, upper end of tibia, lower end of radius and proximal humerus in descending order of frequency. Only 2% of GCT occurs in hand. GCT of bone accounts for 5% of all primary bone tumour. 80% of patients are above the age of 18 years, and it occurs commonly in adults between ages of 20 and 40 years. The authors report a case of GCT of first metacarpal which is very rare site for such tumour and only few cases reported in literature so far.