BMJ Case Reports

Hydrops fetalis is an abnormal accumulation of fluid in two or more foetal compartments which is easily detected using prenatal ultrasonography. It can be categorised into immune and non-immune. The non-immune hydrops can result from various aetiologies, including cardiovascular, respiratory, genitourinary infections, chromosomal anomalies and metabolic causes. The metabolic causes, including lysosomal storage disorders (LSD), are increasingly being recognised as the causes of non-immune hydrops. The hydrops fetalis associated with metabolic disorders is usually severe with huge ascites, hepatosplenomegaly, thick skin, renal abnormalities, increased nuchal translucency, renal abnormalities and skeletal deformities...

Menkes disease is a multisystem disorder caused by disturbances in copper absorption and metabolism. This lethal neurodegenerative disease presents with fine, 'kinky' hair, connective tissue dysfunction and developmental regression after 2-3 months of age. The primary variant associated with Menkes is in the ATP7A gene with X-linked recessive inheritance. Historically, the diagnosis of Menkes has relied on clinical signs and symptoms, but as the disease has varying levels of severity and presentation, it can take months to diagnose and treat...

We present a case of a girl in her early childhood with a background of chromosomal deletion 10q21.2, hypothyroidism, second-degree atrioventricular block, developmental delay, gastroesophageal reflux disease, constipation and recurrent fevers. She had subcutaneous nodules, which represented panniculitis. Diagnosis of fever of unknown origin (FUO) associated with panniculitis was very challenging despite the involvement of geneticist, dermatologist, rheumatologist and paediatrician. To detect possible malignant cases and start treatment plans promptly, the case emphasises the need for a comprehensive diagnostic examination, which includes an early biopsy of nodular lesions...

New-onset Takotsubo cardiomyopathy following spontaneous coronary artery dissection (SCAD) is rare. We report a middle-aged woman without significant cardiovascular risk factors, who initially presented with non-ST-elevation myocardial infarction (NSTEMI) with angiography showing sudden 'pruning' of the coronary artery consistent with SCAD. One week later, the patient returned with recurrent NSTEMI. Repeat coronary angiogram showed no change in SCAD, but ventriculogram revealed new-onset apical ballooning beyond the SCAD-affected territory, consistent with Takotsubo cardiomyopathy...

Rosai-Dorfman disease (RDD) is a rare myeloproliferative disorder involving histiocytes, with an incidence of 1:200 000 and approximately 100 new cases diagnosed annually in the USA. The condition presents a diverse range of clinical manifestations, and early recognition and treatment generally result in a favourable prognosis. However, diagnosing RDD poses challenges due to its rarity. The clinical management of RDD lacks a consensus, further complicating its diagnostic and therapeutic approach. We present a case of a man in his late 50s with RDD who experienced worsening cytopenias, including severe neutropenia and respiratory distress, despite an initial positive response to steroids, rituximab and lenalidomide...

We present our single-centre experience of two cases of lipochoristoma, a rare lesion causing unilateral hearing loss. Differential diagnoses include the more common vestibular schwannoma, haemangioma and meningioma. Diagnosis was confirmed with fat suppression sequences on MRI. Management of both patients was with serial imaging, under the guidance of neuro-otology multidisciplinary team, due to the slow and typically non-aggressive progression of this lesion.

No abstract text is available yet for this article.

Thiamine-responsive megaloblastic anaemia (TRMA) is a rare autosomal recessive disorder characterised by the clinical triad of megaloblastic anaemia, sensorineural hearing loss and diabetes mellitus (DM) in young patients. We present a case of a young man with type 1 DM who presented with pancytopenia of unclear aetiology, initially attributed to a COVID-19 infection. After obtaining a bone marrow biopsy and pursuing genetic testing, two pathogenic variants of the SLC19A2 gene consistent with TRMA were discovered in this patient...

No abstract text is available yet for this article.

CASE PRESENTATION: A woman in her 70s was found unresponsive and brought to our hospital with respiratory distress, cardiomyopathy and volatile alternation between hypotension and hypertension. She was intubated and admitted to intensive care for supportive treatment of suspected baclofen overdose. She gradually recovered and was discharged 10 days after presentation. Laboratory testing confirmed baclofen overdose. CONCLUSION: This case illustrates the classic features of baclofen toxicity but also includes unusual features including ST elevations on ECG and apical ballooning on echocardiogram...

A woman in her 50s presented to the hospital with new-onset jaundice and ascites. Her medical history included a melanoma of the right shoulder, diagnosed 8 months before, for which she had received four cycles of ipilimumab and nivolumab. Due to the oncological history and previous immunotherapy, an immune-checkpoint-inhibitor (ICI)-induced hepatitis was suspected, and a high-dose corticosteroid treatment was initiated. However, as there was no improvement in the liver function tests, a percutaneous liver biopsy was performed for further diagnostic clarification...

We describe a rare case of monostotic infantile cortical hyperostosis (Caffey disease) involving the left femur of an infant, who presented with recent onset left thigh swelling, following vaccination. Radiological workup showed a lamellated periosteal reaction involving the left femoral diaphysis on radiographs masquerading as a bone tumour. The child underwent MRI of the left thigh, which showed extensive muscle oedema without any abnormal soft-tissue proliferation, marrow signal alteration, cortical breach or collection...

Retroperitoneal neuroendocrine tumours are exceptionally rare. The excision of tumours located in the renal hilum near the renal vessels can be challenging. We report a case of a paraganglioma located at the renal hilum which was excised successfully in a child who presented with abdominal pain, breathlessness, left varicocele and hypertension.

We present the case of a man in his 50s with multiple myeloma who developed foot drop after receiving bortezomib-dexamethasone combination chemotherapy. Diagnostic evaluations, including haematological parameters, nerve conduction studies and imaging, were performed to confirm the diagnosis and assess the extent of neuropathy. He was managed conservatively with analgesics and vitamin supplements, and bortezomib was temporarily withheld. The neuropathy gradually improved, and bortezomib was successfully reintroduced without recurrence of foot drop...

Glomus tumours (GTs) are rare benign neoplasms arising from modified smooth muscle cells (SMCs) surrounding arteriovenous anastomosis. Typically, these tumours are found in the distal portion of the digits, especially under the fingernails. A GTs originating from the trachea is extremely rare. We are presenting the case of a Caucasian man in his early 80s, presenting with upper airway obstruction and massive bleeding caused by a large tracheal tumour to which final diagnosis of glomangioma of the trachea was retained...

Spina bifida is a congenital malformation of foetal neural structures which may present as a skin fold or sac containing cerebrospinal fluid and neural structures with a variety of neurological deficits. Surgical repairs of spina bifida may not ensure complete functions, neural improvement or recovery. We present this palliative report of an adult male in his early 40s with a medical history of meningocele repair in his infancy, with long-standing Marjolin ulcers, fractures, contractures, diverting ileostomy and urostomy and a fungating mass externally measuring 33×25 cm...

We present a boy in middle childhood with a medical history of arthrochalasiaEhlers-Danlos syndrome who was diagnosed with scoliosis as a toddler. His treatment began at a regional children's hospital, where initial spine radiographs demonstrated a 43.6° dextroscoliosis curve with the apex at L3. He was initially treated with a Boston brace, and the family was informed that MAGEC (Magnetic Expansion Control) growing rods were likely the definitive treatment due to the high likelihood of progression given the patient's large Cobb angle...

Granulomatosis polyangiitis (GPA) is an autoimmune condition causing inflammation of small blood vessels. It is a rare disorder that may affect various parts of the body. The diagnosis is often based on clinical examination, laboratory investigations and tissue biopsy. In about 10-20% of patients, the anti-neutrophilic cytoplasmic antibody (ANCA) can be negative, and histology maybe inconclusive, which can lead to diagnostic uncertainty. Failure to treat vasculitis can lead to morbidity and even mortality. We present a case report of a gentleman who was presented with an airway emergency with inflammation of the nasal cavity and subglottic involvement amounting to airway stenosis...

Cotyledonoid dissecting leiomyoma (CDL) is a rare benign uterine leiomyoma that macroscopically shows multinodular placenta-like growth. Its border with the myometrial layer is unclear, making it clinically difficult to differentiate from uterine sarcoma. CDL is often misdiagnosed. We report a case of CDL in which a subserosal myoma was suspected preoperatively and an abdominal myomectomy was performed. However, due to intraoperative findings and intraoperative rapid histopathological diagnosis, the procedure was changed to total hysterectomy...

A man in his 40s with a known history of alcohol dependence syndrome was admitted with presenting symptoms of alcohol withdrawal. During his admission, he developed breathlessness, cough and wheezing. Investigations revealed raised absolute eosinophil count and serum IgE levels. Chest imaging showed ill-defined opacities and fibreoptic bronchoscopy with bronchoalveolar lavage confirmed eosinophilic pneumonia. Extensive workup for the cause of eosinophilia was negative. The patient's medicines were reviewed, and it was realised that the onset of eosinophilia occurred after starting topiramate for an alcohol withdrawal seizure...