BMJ Case Reports最新文献

Endometrial cancer is the second leading cause of malignancy in women worldwide. Risk of recurrence and treatment depends on tumour grade, stage and more recently, molecular classification. This case details an atypical presentation of endometrial cancer recurrence. A postmenopausal woman presented to hospital in septic shock with anterior abdominal wall necrotising fasciitis. She was 5 years into her surveillance for FIGO (International Federation of Gynaecology and Obstetrics) Grade III, Stage IIIA mixed endometrioid and clear cell endometrial adenocarcinoma, treated by total abdominal hysterectomy, bilateral salpingo-oophorectomy, vaginal brachytherapy, radiotherapy and chemotherapy. Necrotising fasciitis was localised to a fluid collection associated with biological mesh on the anterior abdominal wall. Histopathology and cytology of the fluid collection revealed high-grade serous endometrial carcinoma. Recurrence in the incision has previously been described in the literature, however not as a fluid collection in association with biological mesh nor causing necrotising fasciitis of the anterior abdominal wall.

Developmental and epileptic encephalopathy 81 (DEE81) presents a complex challenge in diagnosis and management due to its rarity and diverse clinical manifestations. Here, we report the case of a neonate born from a consanguineous marriage, presenting with refractory focal seizures shortly after birth. Despite initial treatment with multiple antiepileptics, seizures persisted, prompting a thorough diagnostic evaluation. Through advanced genomic testing, a homozygous nonsense variant in the DMXL2 gene was identified, leading to the diagnosis of DEE81. This case underscores the importance of considering genetic aetiologies in neonates with early-onset seizures and highlights the value of targeted genetic analysis in guiding personalised management strategies. Our findings contribute to the understanding of DEE81 and emphasise the need for collaborative efforts to improve diagnostic accuracy and therapeutic interventions for affected individuals.

Chronic encapsulated intracerebral haematoma (CEIH) is a rare, delayed complication of stereotactic radiosurgery (SRS) for intracranial arteriovenous malformations. There are no evidence-based guidelines for CEIH management. Current practice patterns range from conservative management with steroids to surgical excision. Here, we report a very delayed case of CEIH that ultimately required surgical resection 24 years following SRS. To our knowledge, this is one of the longest documented cases of recurrent haemorrhages secondary to CEIH, which failed extensive attempts at conservative treatments including steroids, hyperbaric oxygen, vitamin E and pentoxifylline. This case suggests early surgical intervention may be warranted to prevent persistent and recurrent haemorrhages.

We present a case of a woman in her 50s with relapsing-remitting multiple sclerosis, treated with diroximel fumarate, who developed an itching, burning vesicular rash following a C3 dermatomal distribution on her left face and neck. She was diagnosed with herpes zoster, treated with valacyclovir and gabapentin, and made a full recovery. Ensuring patients are protected against varicella-zoster virus before starting diroximel fumarate can prevent this painful infection. Thus, we recommend vaccination against the varicella-zoster virus prior to diroximel fumarate initiation be incorporated as the standard of care.

Our patient is a woman who developed a subacute amnestic syndrome, followed by cognitive impairment, headache, temporal lobe epilepsy and hyponatraemia. An early-stage asymptomatic breast cancer was identified on positron emission tomography (PET) scan. After treatment with immunotherapy with high-dose corticosteroids, intravenous immunoglobulins, upfront rituximab and excision of the tumour, the patient gradually recovered. Partial retrograde and anterograde amnesia persisted during the initial weeks, followed by slow and steady improvement. Autoimmune encephalitis is a severe neurological disorder associated with antibodies against neuronal cell-surface or intracellular onconeural proteins. Anti-leucine-rich glioma inactivated 1 (LGI1) predominantly affects males in the seventh decade of life, and less than 10% of all cases are associated with cancer. Paraneoplastic cases have been associated with malignant thymoma, neuroendocrine tumours and mesothelioma and usually had Morvan syndrome, in which serum antibodies are more frequently directed against CASPR2 than against LGI1. We report the first well-documented case of anti-LGI1 limbic encephalitis in a woman with newly diagnosed breast cancer.

Proliferative glomerulonephritis with monoclonal immunoglobulin deposits is a form of monoclonal gammopathy of renal significance that can rarely co-occur with thrombotic microangiopathy (TMA). We report a rare case in a patient who presented with nephrotic syndrome, in whom the renal biopsy showed TMA and underlying granular electron-dense deposits predominantly along the subendothelial aspect of the glomerular basement membrane and mesangium. Immunofluorescence performed on proteinase-digested formalin-fixed, paraffin-embedded sections showed IgG3 kappa light chain restriction. Further clinical, radiologic and haematologic investigations showed no evidence of any underlying neoplastic B-cell or plasma cell clone. Following multidisciplinary team input, the patient was treated with bortezomib and plasma exchange, allowing long-term clinical stabilisation.

SummaryA man in his 60s with a history of multiple basal cell carcinomas was started on vismodegib, a Hedgehog signalling pathway inhibitor. Despite initial clinical response, he developed asymptomatic drug-induced liver injury (DILI) with elevated alanine transaminase (ALT) after 7 weeks of treatment. Vismodegib was stopped, and liver chemistry normalised. On rechallenge, ALT levels rose significantly higher, requiring discontinuation of vismodegib. However, despite discontinuation, ALT levels continued to rise, as did bilirubin levels. Liver biopsy confirmed inflammatory infiltrate primarily affecting the lobule with hepatocyte cell loss, consistent with DILI, and prednisolone was started. Liver function rapidly improved on prednisolone, and liver chemistry has remained normal since cessation of both vismodegib and prednisolone. This case highlights the need for careful liver monitoring in patients on vismodegib, emphasising the potential for significant DILI on re-exposure.

Doege-Potter syndrome (DPS) is a rare condition that causes hypoinsulinaemic hypoglycaemia due to solitary fibrous tumours (SFTs). This case report details the treatment of a man in middle adulthood (ages 40-65) diagnosed with DPS after experiencing syncope and vasovagal episodes, which led to the discovery of a large mass in the pleura. Following various diagnostic tests confirming the SFT, the patient required anticonvulsant therapy and glucose infusions due to recurrent seizures and severe hypoglycaemia prior to surgery. After the surgical removal of the tumour, both hypoglycaemia and the need for anticonvulsants were resolved. This case highlights the importance of considering DPS in patients with unexplained hypoglycaemia and intrathoracic masses. It concludes that surgical resection is the preferred treatment for SFTs associated with DPS, offering a favourable prognosis, and emphasises the need for regular follow-up to monitor for potential recurrence.