BMJ Case Reports最新文献

Duodenal webs are an uncommon cause of duodenal stenosis arising from incomplete bowel recanalisation during embryological development. Despite troubling symptoms such as bilious vomiting in affected infants, prognosis is generally favourable when promptly recognised and treated surgically. Though the condition is recognised as embryological in origin, evidence for familial predisposition is lacking in the medical literature. The authors present a case of duodenal web and concurrent annular pancreas with a positive family history of congenital duodenal obstruction in the infant's father. We discuss how knowledge of familial occurrence of the condition can promote early diagnosis after birth and propose the potential role for preconception genetic counselling for parents with a personal or family history of congenital duodenal obstruction.

Isolated involvement of the liver in histoplasmosis is rare. We report a case of an immunocompetent patient in their mid-40s who presented with prolonged fever and elevated liver enzymes. Liver biopsy revealed granulomas, and histoplasmosis was confirmed by Periodic Acid-Schiff staining and positive urinary Histoplasma antigen test. No other organ involvement was found. Treatment with Amphotericin B and Itraconazole resulted in complete recovery, and Urinary Histoplasma antigen was negative 6 weeks after treatment initiation. This report highlights the importance of considering histoplasmosis in cases of unexplained hepatic dysfunction, even in immunocompetent patients. Also, the rare presentation of histoplasmosis with isolated hepatic involvement is discussed. This case adds to the growing body of evidence on histoplasmosis in India, a region traditionally considered non-endemic for the disease.

Sitosterolaemia is an autosomal recessive disorder in which the intestinal absorption of sterol molecules is unregulated, leading to elevated cholesterol. Recognition avoids unnecessary investigation. A low plant sterol diet reduces symptoms, anaemia and cardiovascular risk. We identified a patient in an isolated Scottish island community by recognising the key haematological finding of macrothrombocytopenia and haemolytic anaemia (without raised cholesterol). Serum gas chromatography demonstrated significantly raised sitosterol levels. Sequencing revealed homozygosity for the most common ABCG8 pathogenic variant, c.1083G>A, p.Trp361Ter (W361X), confirming the diagnosis.Homozygosity for a rare variant suggested its enrichment in Scottish island populations. Interrogation of data from the Viking Genes Project cohort confirmed a significant increase in variant heterozygosity in those with four Scottish island grandparents compared to the general UK population. We propose that sitosterolaemia is under-recognised. It should be considered in patients with macrothrombocytopenia and haemolytic anaemia, especially in those of Scottish island ancestry.

Neonatal alloimmune neutropenia (ANN) is a rare cause of neutropenia in newborns, resulting from maternal antibodies directed against paternal antigens present on fetal neutrophils, in a mechanism similar to Rh haemolytic disease.We present the case of a full-term newborn with severe neutropenia from birth (nadir 110/µL) but no clinical signs of infection. As neutropenia persisted beyond the neonatal period, an immunological study was performed, identifying maternal IgG anti-human leukocyte antigen (HLA) class I and II antibodies and positive cross-match tests against paternal and neonatal neutrophils. While these findings suggest anti-HLA antibodies likely contributed to the neutropenia, the absence of glycoprotein-specific confirmatory assays-such as MAIGA (monoclonal antibody immobilisation of granulocyte antigens) or immunoprecipitation-prevents definitive causal attribution.The outcome was favorable with no need for treatment. Neutropenia resolved spontaneously at 22 weeks of life.Current literature on this entity is reviewed, highlighting its transient nature and good prognosis in most cases.

Local recurrence at a surgical staple site is an uncommon but clinically important cause of diagnostic uncertainty during lung cancer surveillance. Although postoperative staple site thickening is frequently encountered, distinguishing benign postsurgical changes from true malignant recurrence can be challenging, particularly when early imaging findings are metabolically inactive. In an elderly woman previously treated with curative right lower lobectomy, imaging identified a small right hilar tissue density adjacent to the surgical staple site. Initial 18F-fluorodeoxyglucose (FDG) positron emission tomography-CT demonstrated no significant metabolic activity; however, interval progression in both size and FDG uptake on serial imaging raised concern for recurrence, highlighting the limitation of relying on SUVmax alone to exclude malignancy. Due to its hilar location and proximity to major vessels, percutaneous biopsy was not feasible. Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) enabled minimally invasive tissue confirmation of recurrence of non-small cell lung carcinoma in an anatomically complex postoperative site. After multidisciplinary evaluation, repeat surgery was deemed high-risk; hence, definitive stereotactic body radiation therapy (SBRT) was delivered. The patient tolerated treatment well, with early follow-up imaging showing a reduction in lesion size and metabolic activity, followed by persistent low-level metabolic activity on later surveillance. This case underscores the importance of maintaining a high index of suspicion for staple site recurrence despite initially negative metabolic imaging, the value of tissue confirmation in progressive postoperative lesions, and the role of EBUS-TBNA and SBRT as pragmatic diagnostic and therapeutic options when reoperation is not feasible.

Aneurysms of the thyrocervical trunk are rare and often associated with trauma or underlying conditions such as neurofibromatosis type 1. Management guidelines do not exist for this aneurysm and there remains practice variation with some performing open ligation and repair and others performing endovascular coiling. We report a case of idiopathic thyrocervical trunk aneurysm which presented as a painful right-sided pulsatile neck mass. Diagnosis of the right thyrocervical trunk aneurysm was initially made via ultrasonography and subsequently confirmed with CT angiography. The patient was managed with endovascular coil embolisation of the inflow and outflow tracts of the aneurysm via right radial artery access. The patient was discharged post-operative day 1 with resolution of symptoms.

Anti- melanocyte differentiation-associated protein 5 (MDA5) associated dermatomyositis is a rare, heterogeneous disease with multiple phenotypes. This case describes a patient with indolent myopathy, skin lesions and normal creatine kinase (CK). After a period of diagnostic uncertainty, the patient was found to have positive anti-MDA5 and anti-Ro52 antibodies, confirming anti-MDA5 dermatomyositis with cutaneous vasculopathy. Recognition of vasculopathy as a manifestation of dermatomyositis could have led to a much earlier diagnosis. The European Alliance of Associations for Rheumatology /American College of Rheumatology classification criteria can aid diagnosis. Antibody profile correlates with disease phenotype in dermatomyositis. Anti-MDA5 dermatomyositis is typically associated with rapidly progressive interstitial lung disease and amyopathic dermatomyositis. Some patients may present with myopathy despite a normal CK. Vasculopathic skin lesions are common, but frequently under-recognised, and can develop from Gottron's papules. All phenotypes are associated with increased morbidity and mortality. This underscores the importance of recognising such vasculopathy as a sign of anti-MDA5-associated dermatomyositis, thus contributing to earlier diagnosis and treatment.