BMJ Case Reports

Relapsing-remitting multiple sclerosis in a patient with Huntington’s disease

A woman in her 50s with genetically confirmed Huntington’s disease presented with right-sided arm sensory symptoms that ...
BMJ Case Reports

Gastrointestinal stromal tumour of the small intestine presenting as an adnexal mass on transvaginal ultrasound

The clinical presentation of gastrointestinal stromal tumours (GISTs) can vary and can be attributed to tumour mass effect or gastrointestinal haemorrhage. We present the rare case of a female in her ...
BMJ Case Reports

When imaging fails: surgical discovery of an occult ovarian teratoma in severe refractory anti-NMDA receptor encephalitis

Anti-N-methyl-D-aspartate (NMDA) encephalitis is marked by rapidly evolving and severe neuropsychiatric symptoms that can affect any age. This case illustrates a woman in her early 40s who was ...
BMJ Case Reports

Perioperative airway management of a neonate and an infant for surgical repair of large occipital meningomyeloceles

Occipital meningomyeloceles are rare and challenging conditions for the anaesthesiologist, mainly because of the difficulty ...
BMJ Case Reports

Epidural anaesthesia for caesarean delivery in a woman with Fontan circulation and severe thrombocytopaenia

Fontan physiology poses unique anaesthetic challenges due to passive pulmonary circulation, preload dependence and elevated ...
BMJ Case Reports

Primary orbital B cell lymphoblastic lymphoma in a toddler mimicking rhabdomyosarcoma: a diagnostic challenge

Paediatric orbital tumours are rare, and primary orbital lymphomas are particularly uncommon, with an incidence of approximately 0.12 per 1000 000 children. Such lymphomas may present as orbital ...
BMJ Case Reports

Müllerian duct cyst and prostate adenocarcinoma in a young adult

Müllerian duct cysts are rare congenital anomalies arising from persistent remnants of the paramesonephric (Müllerian) duct system. The coexistence of Müllerian duct cysts with prostate adenocarcinoma ...
BMJ Case Reports

Delayed diagnosis of congenital duodenal obstruction in early adolescence in a patient with Down syndrome and autism spectrum disorder

Congenital duodenal obstruction (CDO) is a recognised anomaly frequently associated with Down syndrome (DS). While complete obstruction is typically diagnosed in the neonatal period, incomplete ...
BMJ Case Reports

Early diagnosis and management of primary vitreoretinal lymphoma with non-radiologic leptomeningeal involvement using MYD88 Leu265Pro variant analysis

This case report describes a woman in her 60s diagnosed with primary vitreoretinal lymphoma (PVRL) with leptomeningeal ...
BMJ Case Reports

Awake video laryngoscopy and tracheal intubation in a super morbidly obese critically ill patient with a physiologically difficult airway

Standard airway management in deteriorating super morbidly obese patients can lead to cardiovascular collapse because of their poor physiological reserves. In this report, we describe a case of awake ...
BMJ Case Reports

Diagnostic challenges of Cushing’s syndrome in pregnancy

We report a rare case of Cushing’s syndrome in a pregnant woman carrying twins. Interestingly, the patient did exhibit many of the classic clinical features typically associated with hypercortisolism, ...
BMJ Case Reports

Gastric synovial sarcoma: the critical role of molecular techniques in diagnosis of an ultra-rare cancer

Gastric synovial sarcoma (GSS) is an exceptionally rare mesenchymal malignancy, with only 51 cases reported. We present a case of a man in his 50s with dyspeptic symptoms and epigastric pain.