BMJ Case Reports最新文献

Thyrotoxic periodic paralysis is a rare but potentially life-threatening complication of thyrotoxicosis characterised by hypokalaemia-induced flaccid paralysis due to an intracellular potassium shift rather than total body depletion. We report a male in his early 40s of Filipino origin who awoke with acute bilateral lower-limb weakness after he had consumed a large carbohydrate meal and performed strenuous exercise within the preceding 12 hours. Venous blood gas was normal; initial serum potassium was 1.7 mmol/L with phosphate 1.07 mmol/L. The ECG showed sinus tachycardia, first-degree atrioventricular block and prominent U-waves with QTc 388 ms. Urine potassium/creatinine ratio was 1.7 mmol/mmol (expected <2.0 in hypokalaemia), indicating appropriate renal conservation. A point-of-care thyroid panel did not include thyroid-stimulating hormone (TSH); the laboratory TSH was reported later as suppressed (0.001 mIU/L) with elevated FT4/FT3. There was no diuretic, insulin or β-agonist use. The patient received potassium chloride totalling 80 mEq (≤10 mEq/hour peripherally with continuous ECG monitoring) with serum potassium checks every 1-2 hour, and supplementation was stopped once K+ reached 4.0 mmol/L; propranolol 40 mg orally every 8 hours and methimazole 10 mg orally every 8 hours were started. Muscle strength normalised within 24 hours. This case underscores the diagnostic triad of hypokalaemia without an acid-base disorder, appropriate renal K+ conservation and characteristic ECG changes, and highlights pragmatic dosing/monitoring plus the need for definitive control of thyrotoxicosis to prevent recurrence.

A male in his 50s presented to the renal department with a diagnostic challenge of an unexplained kidney injury. Antiphospholipid antibody syndrome and oral anticoagulation augmented the risk for a renal biopsy. This, along with relatively static estimates of glomerular filtration rate combined to delay renal biopsy and definitive renal diagnosis by 6 months. The late emergence of symptomatic bilateral anterior uveitis consolidated the diagnosis of tubulointerstitial nephritis and uveitis (TINU) syndrome but it also highlighted a lack of systemic early screening for ocular disease in the renal clinic. When faced with a diagnostic challenge, clinicians are more likely to find clinical conditions they are actually looking for. Increased awareness of TINU, earlier screening for ocular symptoms at presentation and/or examination for asymptomatic uveitis when a diagnosis of tubulointerstitial nephritis is being considered is recommended. Furthermore, early screening in cases of bilateral anterior uveitis for existing kidney issues should be pursued.

A toddler boy presented with irritability, vomiting, fever and multiple episodes of seizures, followed by status epilepticus on day 4 of illness. The child had a history of reduced pain perception, recurrent unexplained febrile episodes, self-injurious behaviour and reduced sweating noted since birth. On examination, the Glasgow Coma Scale score was 6/15, with evidence of dental attrition, non-healing wounds, hypotonia, reduced power and sluggish reflexes. MRI brain revealed bilateral symmetrical diffusion restriction in the subcortical white matter, consistent with Acute Leukoencephalopathy with Restricted Diffusion (ALERD). The child received intravenous immunoglobulin and intravenous methylprednisolone for 5 days, and by the end of therapy showed about 60% improvement in encephalopathy. Exome sequencing revealed compound heterozygous variants, likely pathogenic in the NTRK1 gene. The child was diagnosed with ALERD in the context of hereditary sensory autonomic neuropathy (HSAN). This case illustrates HSAN type 4, which can present as ALERD, posing diagnostic challenges.

A male patient in his mid-30s presented with progressive right eye proptosis and vision loss, accompanied by retro-orbital and occipital pain. He had a history of skull base trauma and endoscopic repair for cerebrospinal fluid rhinorrhoea 7 years earlier. Imaging revealed a lesion adjacent to a cribriform plate defect, initially suggesting a non-expanding meningocele. However, intraoperatively, the lesion was identified as a spheno-ethmoidal mucocele with orbital extension. Endoscopic drainage and marsupialisation were performed, resulting in immediate resolution of proptosis and marked improvement in visual acuity. Follow-up imaging showed no residual lesion or optic nerve compression. This case illustrates a rare spheno-ethmoidal mucocele presenting as compressive optic neuropathy, emphasising the need for a broad differential diagnosis and multidisciplinary collaboration when evaluating skull base lesions.

This report describes a multiparous woman in her mid-40s who underwent an abdominal myomectomy for abnormal uterine bleeding due to fibroids and desire for fertility preservation which resulted in the rare consequence of uterine loss due to severe infectious complications postoperatively. Despite receiving prophylactic clindamycin at the index surgery, her postoperative course was complicated by an abdominal wall abscess as well as necrotising soft tissue infection involving the uterus. Management included parenteral antibiotics and a supracervical hysterectomy with bilateral salpingo-oophorectomy. There is a dearth of guidance regarding surgical site infection for myomectomy of any route. Limited data support a need for further high-quality clinical trials to develop decisive guidance regarding antibiotic prophylaxis at the time of myomectomy. As demonstrated in this case, the consequences have the potential to lead to infertility, menopause and even death.

DNA polymerase subunit gamma-1 (POLG)-related disease is a heterogeneous spectrum of mitochondrial disorders with neurologic and hepatic manifestations. We report a woman in her 20s who developed refractory seizures followed by fulminant hepatic failure after valproic acid exposure. Laboratory evaluation revealed low copper indices without evidence of Wilson disease, neuroimaging demonstrated evolving posterior-predominant abnormalities, and liver biopsy showed acute hepatitis with microvesicular change and 'two-toned' hepatocytes. Rapid whole-genome sequencing identified compound-heterozygous POLG variants c.1399G>A p.(Ala467Thr) and c.2243G>C p.(Trp748Ser), confirming a juvenile/adult-onset POLG-related disorder. This case highlights key diagnostic pitfalls, including potential misdirection of copper studies and risk of valproate hepatotoxicity in patients with unrecognised POLG variants. Supportive clues like occipital-predominant electroencephalogram/MRI changes, rapid neurologic-hepatic progression and hepatic microvesicular pathology can aid early suspicion but are not universally present. Prompt genetic testing and multidisciplinary follow-up are essential to guide management, avoid harmful therapies and anticipate the trajectory of this multisystem disease.

A man in his 50s, normally fit and well, had an ischaemic thalamic stroke confirmed on MRI, manifesting with left-sided weakness, numbness and ataxia. Admission BP was 254/150 mm Hg. All tests for secondary hypertension were normal. After 72 hours as an inpatient, starting antihypertensives reduced the systolic BP to 170 mm Hg; however, after discharge, his BP rose again and remained persistently high despite up-titration of antihypertensives to five medications. After further questioning, the patient revealed an average daily consumption of eight cans of energy drink, each containing 160 mg caffeine, a habit which had not been specifically asked about during admission. On cessation of this consumption, his BP normalised and antihypertensives were successfully withdrawn. This article explores what we can learn from this case about whether energy drink consumption could be a risk factor for stroke and cardiovascular disease, and therefore the importance of targeted questioning in clinical practice, and greater public awareness.

Primary bladder perivascular epithelioid cell tumours (PEComas) are rare tumours that typically present in the third or fourth decade of life. Radiological and histopathological findings play a crucial role in establishing the diagnosis, and treatment is primarily based on surgical excision. We present the case of a primary bladder PEComa in an early adolescent male presenting with macroscopic haematuria and a hypervascular bladder mass. These peculiar symptoms should prompt consideration of the rare diagnosis of PEComa, even in paediatric patients.

A woman in her 30s with a history of simple trachelectomy and permanent cervical cerclage for stage IA1 cervical cancer presented with a missed miscarriage at 9 weeks gestation following IVF pregnancy. After a review of the literature and a failed medical management of miscarriage, a multidisciplinary decision was made to continue a prolonged expectant management protocol. The patient's primary priority was the preservation of her fertility potential to facilitate future IVF following miscarriage resolution. Surgical approach to miscarriage management was considered with a high risk of complications including perforation, removal of cerclage and hysterectomy; therefore, this option was to be avoided unless absolutely necessary. Over a 7-month period with regular ultrasound follow-up we demonstrated gradual resolution with clearance of all products of conception 7 months from initial diagnosis. She remained clinically well throughout this process. This case highlights the challenges of managing early pregnancy failure in patients with a history of trachelectomy and supports the role of prolonged conservative management and individualised care plans.