BMJ Case Reports最新文献

This case from Tanzania involving a black woman in her 60s with Addison's disease (AD) highlights the diagnostic and management challenges of this condition in a resource-limited setting. It underscores the need for increased awareness, better diagnostic facilities and more accessible treatment options for AD in Tanzania and other developing countries. The case also highlights the role of junior, inexperienced medical staff, which is common in Africa, in contributing to delays in diagnosis and treatment. This context is crucial for understanding the complexities involved in diagnosing and managing AD in such regions, where the disease can often go unrecognised due to overlapping symptoms with other common conditions and limited healthcare resources.

Supernumerary phantom limb (SPL) is an awareness of an illusory extra limb in addition to the existing limbs. This illusion can be disturbing if unrecognised. SPL due to cerebral lesions is rare but occurs in various neurological disorders, mostly right hemispheric stroke. Detailed symptom examination is crucial as SPL may be under-reported and overlooked during the acute stroke phase. This case report describes SPL without phantom limb pain after a pontine haemorrhage, and pain absence may delay SPL identification. A female patient in her mid-40s was admitted after a median pontine haemorrhage. 6 weeks post stroke, she reported an extra left arm and leg, present since stroke onset but not identified by staff. She could move the extra arm independently of the paretic arm and did not experience any pain. The extra arm disappeared weeks later as her paretic side improved.

Tizanidine, a muscle relaxant, exerts its mechanism as a centrally acting alpha-2 adrenergic receptor agonist and binds to imidazoline receptors. Bradycardia and hypotension are adverse effects associated with alpha-2 adrenergic receptor agonists. A man in his 50s with a medical history of hypertension and chronic back pain presented with chest pain and hypertension. Pertinent medication history included metoprolol tartrate, lisinopril, hydralazine, hydrochlorothiazide and tizanidine and was continued. Following medication administration, the patient was hypotensive. Further episodes occurred that correlated with tizanidine administration and were more pronounced with concomitant lisinopril administration. Tizanidine was discontinued, and the hypotensive episodes resolved. Profound hypotension caused by a tizanidine-lisinopril drug interaction is rare but potentially life-threatening. This reaction scored a 4 on the Naranjo Adverse Drug Reaction Probability Scale and Drug Interaction Probability Scale. Providers should be aware of this potential adverse reaction from the combination of medications.

Abdominal pregnancies, 1% of all ectopic pregnancies, present diagnostic complexities with a significant risk of intraperitoneal haemorrhage and mortality. Hepatic occurrences are exceptionally uncommon, with treatment strategies less established.A woman in her early 30s and third pregnancy underwent laparotomy due to haemoperitoneum suspecting an ectopic pregnancy, but normal pelvic structures were observed. Ultrasound and MRI confirmed the hepatic location of a gestational sac of 4 cm with a live fetus at 9 weeks. Intragestational sac methotrexate was administered under ultrasound guidance along with a single intramuscular dose due to high serum β-hCG which became undetectable after 8 weeks. The patient experienced no significant complications and was followed up for a year where an avascular gestational sac of 13 mm was still imaged.Hepatic pregnancy represents an exceptionally rare subset of abdominal pregnancies, frequently challenging to diagnose due to its atypical location. This is a first-of-its-kind report of imaging follow-up until 1 year.

A woman in her 60s with a history of vitamin B12 deficiency treated with intramuscular hydroxocobalamin was attending a specialist clinic for the management of persisting breathlessness following a previous pulmonary embolism. She reported that a persistently elevated vitamin B12 had been identified several months previously, despite the withdrawal of replacement therapy, and that the cause could not be explained to her by her general practitioner. Recognition of the potentially serious implications of this finding led to the identification of a pancreatic tumour which, by the time of diagnosis, had become too advanced for active management. We describe the metabolism of vitamin B12 in the context of hypervitaminosis B12 as a reflection of elevated transcobalamin consequent to underlying disease and the need to identify promptly the underlying cause.

Multiple Self-Healing Squamous Epithelioma of Ferguson-Smith (OMIM 132800) is a syndrome increasing the risk of developing keratoacanthomas, which are locally aggressive skin tumours. Loeys-Dietz syndrome is a connective tissue disease characterised by arterial fragility. There is no increased risk of skin tumours classically described.Both phenotypes have been associated with a different pathogenic variant of the TGFBR1 gene involved in the TGFbeta signalling pathway. We present the case of a patient with both phenotypes. This appears to be caused by a single likely pathogenic variant within TGFBR1: c.1421G>A (p.Cyst474Tyr) in the protein domain of the serine-threonine protein kinase.This is the fourth reported case exhibiting this dual clinical presentation with a single genetic variant in this same region.

Tubal molar pregnancy is extremely rare, and less than 200 cases have been reported in the literature. The incidence is approximated at 1.5 per 1 000 000 pregnancies. We report a case of ruptured tubal pregnancy in a woman, whose postoperative histopathology diagnosis showed partial molar pregnancy in the ruptured fallopian tube. The presence of abnormal, non-polar trophoblast proliferation, which is circumferential with vacuolation, along with sheets of pleomorphic extravillous trophoblast, is the main diagnosing feature, and it carries the risk of malignant potential.

Bilateral medial medullary infarction (BMMI) is a rare stroke subtype in the paediatric population characterised by quadriplegia, cranial nerve dysfunction and respiratory failure. MRI typically reveals a 'heart-shaped' sign in the medial medulla on diffusion-weighted imaging (DWI). Paediatric stroke aetiologies, including vasculopathy, thrombophilia and cardioembolic disease, differ from those in adults. Antiphospholipid syndrome (APS) is a rare but important cause of paediatric stroke.We report an adolescent male presenting with acute quadriplegia, bulbar dysfunction and respiratory failure with intact cognition, consistent with locked-in syndrome. MRI confirmed BMMI with concurrent spinal cord infarction, and APS was diagnosed based on persistently elevated anticardiolipin antibodies. Anticoagulation therapy and rehabilitation were initiated. However, minimal neurological improvement was observed at 1-year follow-up. This case highlights the rarity of BMMI in children and underscores the importance of early diagnosis and management as well as the recognition of uncommon causes such as APS.