BMJ Case Reports

Severe acute hyponatraemia, defined as a sodium concentration of less than 120 mEq/L, typically manifests with neurological manifestations, resulting in obtundation, coma, seizures, respiratory arrest and death. It very rarely is arrhythmogenic, with a literature review revealing seven cases of hyponatraemia-associated atrioventricular (AV) block of various degrees, of which only three were described as having third-degree AV block. The higher-degree AV blocks typically occurred at sodium levels closer to 115 mEq/L...

Hypothalamic hamartomas are uncommon congenital malformations that present as precocious puberty, gelastic seizures and/or psychiatric disorders. Characteristic changes in MRI scans lead to a diagnosis. Treatment may include surgery or gonadotropin-releasing hormone agonists (GnRHa) depending on clinical manifestations.Here, we describe a case of hypothalamic hamartoma diagnosed in a girl in middle childhood, who presented with early development of secondary sexual characteristics. Physical examination, hormonal study, bone age and pelvic ultrasound findings were consistent with those of precocious puberty...

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The EXOPULSE Mollii is designed to reduce spasticity through low-current electrical stimulation of major muscle groups. The effect on severe cerebellar ataxia has not been investigated. This case describes the use of the EXOPULSE Mollii in an adult male with severe cerebellar ataxia 4 months after cardiac arrest and ischaemic stroke. The patient used the suit in 15 of 19 possible sessions (78.9%). He improved in the sit-to-stand test, arm function test and 10 m walking test. He described improved visual focus, ability to speak and swallow...

A term newborn girl presented with apnoea and seizures at approximately 20 min of life following an uneventful vaginal delivery. She required admission to the Neonatal Intensive Care Unit following intubation and was commenced on conventional ventilation. Her mother had received a local lidocaine injection for an episiotomy prior to delivery. Initial investigations confirmed electrographic seizures for which she received an anticonvulsant with successful termination of seizure activity. Investigations for hypoxic injury, intracranial trauma, structural brain abnormalities, metabolic disorders and infection were unremarkable...

Anterior mediastinal mass presents an airway challenge due to its relative size in a paediatric chest and its invasion and compression of the surrounding structures. We present a case of a toddler with airway obstruction secondary to an anterior mediastinal mass. We describe how the use of an armoured endotracheal tube helped with ventilation while waiting for steroids and chemotherapy to reduce the tumour size and compression.

Despite advancements in breast cancer management, metastatic disease remains a challenge. Thymic metastasis is an infrequent site of involvement. We intend to report a rare case of a woman in her 40s who presented with bilateral nipple discharge for 2 months. A triple assessment confirmed left breast carcinoma. A staging CT scan and positron emission tomography scan revealed an anterior mediastinal mass of thymic origin, and histology confirmed metastatic breast cancer. The patient made a good recovery following surgical and oncological treatment...

A man in his 50s underwent vitrectomy surgery for a macular off retinal detachment which was complicated by intraoperative hypotony and suprachoroidal haemorrhage, resulting in the use of silicone oil tamponade. Postoperatively, several retained cysts of fluid were seen underneath the retina, one of which was large and close to the macular. Imaging was used to determine that this was likely retained silicone oil. Given the potential of migration to the macular and retinal toxicity, the decision was made to remove the larger oil bubbles under the retina...

A Caucasian man in his late 80s was admitted with central abdominal pain, abdominal distension and continuous vomiting, on the background of a recent admission for acute cholecystitis. The patient was managed for subacute bowel obstruction and was admitted to general surgery for further investigation. His blood tests showed raised inflammatory markers and deranged liver function tests. A CT scan showed the migration of a large gallstone, previously seen in the neck of the gallbladder on prior admission, to the proximal duodenum causing a degree of gastric outlet obstruction...

Caudal regression is a rare complex disorder impacting the formation of the caudal segment of the spine and spinal cord. We report a preterm newborn baby who was referred to us due to respiratory distress syndrome and bilateral knee contracture. A clinical examination and a radiographic skeletal survey revealed a short spinal cord with complete agenesis of the lumbar, sacrum and coccygeal spine, and hypoplastic iliac bones with bilateral knee contractures. The mother did not have diabetes. The long-term outcome is not well-known in our set-up...

A woman in her early 20s presented with cough and fever. She had undergone an abdominal myomectomy 3 years ago for uterine leiomyoma. Chest CT and positron emission tomography-CT revealed multiple round nodules in both lungs, suggesting metastatic lesions. A CT-guided lung biopsy was performed, and the tumour was diagnosed as pulmonary benign metastasising leiomyoma (PBML) based on pathological analyses. Whole exon capture sequencing of uterine leiomyoma and PBML sections revealed that 13 genes (MCM10, SLC16A9, RAG1, BAZ1A, NLRP2, TRMT61B, CPXM1, NGLY1, SUCLG2, FAM13A, CAGE1, PHTF2 and ZDHHC2) were concurrently present in the two tumours...

Plasma donation has been widely used to recover medically vital components, such as immunoglobulins and clotting factors. Although generally well tolerated, there have been reports in the medical literature of reactions following blood and plasma donation. We present the first case, to our knowledge, of lower extremity oedema as the only complication noted following plasma donation in an adolescent female without underlying risk factors. Laboratory evaluation was unremarkable with the exception of decreased total serum protein...

Panic attacks have been associated with hypophosphatemia, which can lead to numerous complications if unrecognised. Here, we present the case of an otherwise-healthy man in his 20s who experienced a panic attack accompanied by hypophosphatemia and hypokalaemia and subsequently developed rhabdomyolysis. This trajectory highlights the clinical significance of panic attack-associated metabolic derangements and their potential for medical complications such as rhabdomyolysis.

An early adolescent boy with chronic kidney disease on haemodialysis was referred to the surgical clinic for the creation of an arteriovenous fistula. He was undergoing treatment for dilated cardiomyopathy and extrapulmonary tuberculosis. The patient was haemodynamically stable during the procedure, but he developed rapidly progressing dyspnoea, tachycardia and tachypnoea about 10 min after the vessels were declamped. His blood pressure rapidly rose above 220/120 mm Hg and saturation dropped below 90%...

A man with chronic obstructive pulmonary disease (COPD) in his mid-60s was admitted for respiratory failure due to multifocal, necrotising pneumonia. Despite initial improvement with antimicrobial therapy, the patient developed hemoptysis and progressive infiltrates. Subsequent fungal cultures from his bronchoalveolar lavage were positive for Aspergillus niger and treatment with voriconazole was added for suspected invasive pulmonary aspergillosis (IPA). A repeat bronchoscopy revealed cobblestone lesions with mucosal friability throughout the lower trachea and bilateral mainstem bronchi...

Leuconostoc spp are lactic acid-producing bacteria closely related to the Streptococcus family. While usually associated with the fermentation of dairy products and sauerkraut, they are rarely associated with human infections. This is a case report of an immunocompetent patient found to have L. mesenteroides bacteremia associated with raw milk and poor dentition as the likely source of infection, which was treated successfully with daptomycin as this genus is intrinsically resistant to vancomycin.

A man in his 40s presented to our outpatient department with a painful ulcer in the oral cavity for 1 week. After intraoral examination, a single hard palate ulcer, which was non-tender on palpation, was noted. Baseline blood investigations such as haemogram and serological evaluation were within normal limits. Under local anaesthesia, an excisional biopsy was performed. The histopathological examination revealed a reactive necrotising inflammatory process involving minor salivary glands with no cytological atypia...

We present a case of massive generalised necrotic lymphadenopathy due to tuberculosis (TB) without any solid organ involvement. An immunocompetent man in his early 30s presented 1 year ago with weight loss, cough and a solitary cervical node. Contrast-enhanced CT scan thorax showed massive enlargement of almost all groups of mediastinal nodes with large areas of necrosis. Ultrasound examination revealed multiple necrotic abdominal nodes. Core biopsy of the supraclavicular node confirmed TB by histopathology and molecular testing...

TARP (talipes equinovarus, atrial septal defect (ASD), Robin sequence, persistent left superior vena cava) syndrome is a rare X-linked disorder affecting the RBM10 gene. It was previously viewed as universally fatal in the early neonatal period, however, recent cases have shown patients surviving beyond this stage. We present a male toddler diagnosed with TARP syndrome due to a a previously unreported splicing mutation c.2295+1G>A in the RBM10 gene. At birth, he had an ASD and Robin sequence, two of the eponymous features, as well as other associated phenotypic features...

Schwannomas are nerve sheath tumours that can be found throughout the body along peripheral nerves. Primary schwannomas of the colon are very rare. They are usually benign and their surgical resection is considered curative. They are, however, difficult to diagnose preoperatively and therefore tend to be overtreated with major colorectal surgery.