 Case reports: Genetics

Search or browse case reports on rare diseases and unusual presentation of more common diseases

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A family with cytotoxic T-lymphocyte-associated protein 4 haploinsufficiency presenting with aplastic anaemia
Acute haemorrhage from a large renal epithelioid angiomyolipoma: diagnostic and management considerations in a teenage patient with a rare cancer
Adult male patient with severe intellectual disability caused by a homozygous mutation in the HNMT gene
Atypical haemolytic uraemic syndrome: a case of rare genetic mutation

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Fetal Beckwith-Wiedemann syndrome associated with abnormal quad test, placental mesenchymal dysplasia and HELLP syndrome

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Hereditary thrombotic thrombocytopenic purpura (TTP) with co-occurring autosomal dominant polycystic kidney disease (ADPKD)

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Leptomeningeal disease in BRIP1-mutated pancreatic adenocarcinoma

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SMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history

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Too young to break? A rare case of premenopausal osteoporosis

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Vascular Ehlers-Danlos syndrome presenting in the ICU as aneurysmal subarachnoid haemorrhage

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