Cytochrome P450 oxidoreductase deficiency is a recently established autosomal recessive disease characterised by ambiguous genitalia, impaired steroidogenesis, and skeletal malformations, referred to as Antley-Bixler syndrome. Clinical manifestations in affected patients are highly variable. We report on a girl with P450 oxidoreductase deficiency who presented with virilisation at birth. There was transient maternal virilisation during pregnancy as well. She was initially diagnosed with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency and/or aromatase deficiency. At 1 year of age, skeletal abnormalities suggestive of Antley-Bixler syndrome were detected. Molecular analysis of the fibroblast growth factor receptor 2 (FGFR2) gene was normal but POR gene analysis showed that she was homozygous for an R457H missense mutation. The diagnosis, P450 oxidoreductase deficiency, was confirmed. Results of her endocrine studies and urinary steroid profiling are also presented.

Integrated positron emission tomography combined with plain computed tomography is commonly employed as the diagnostic tool for patients presenting with lung opacities. This technology is non-invasive and does not put the patient at risk of contrast reaction. We report a case of a man who presented with fever, septicaemia, and a left apical lung opacity on chest radiography. His positron emission tomography and plain computed tomography scans showed increased uptake by the left apical lung opacity together with a huge anterior mediastinal mass, suggestive of lung cancer with mediastinal lymph node involvement, and a right upper lobe shadow. After an initial futile bronchoscopy, an endobronchial ultrasound-guided transbronchial needle aspiration of the mediastinal node was planned but a contrast computed tomographic scan of the thorax revealed no significantly enlarged mediastinal lymph nodes. The differential diagnoses of these findings, together with the limitations of positron emission tomography and plain computed tomography, are discussed.

A patient who was given metoclopramide for vomiting and diarrhoea developed circulatory collapse with his blood pressure dropping to 50/20 mm Hg. A gastrinoma was diagnosed histologically. The extent of the tumour was defined by octreotide scanning and magnetic resonance imaging. Metoclopramide was again given for colicky abdominal pain and the patient developed circulatory collapse a second time. A laparotomy involving extensive resection of the tumour was performed. The MEN1 mutation was not detected in blood or tumour tissue. Follow-up octreotide scanning did not show any residual tumour. Possible causes for the circulatory collapse are discussed. Our case is probably the first patient with gastrinoma to develop circulatory collapse after being given metoclopramide.

Stonefish envenomation is a common marine sting. Although stonefish injuries are commonly sustained during maritime activities, this local delicacy can also be considered a regional occupational hazard for chefs. The availability and consumption of stonefish in local restaurants has increased the risk of acute carpal tunnel syndrome after a stonefish injury. This case report describes acute carpal tunnel syndrome following stonefish envenomation. An excellent recovery was achieved after surgical decompression of the carpal tunnel syndrome. Standard management of stonefish injuries should therefore take into account the possibility that this orthopaedic emergency may complicate the injury.

Cat-scratch disease is a clinical syndrome that usually presents as a self-limiting illness featuring regional lymphadenopathy, fever, and small skin lesions in association with a cat scratch or bite. It is caused by the Gram-negative bacillus Bartonella henselae, which commonly affects children and young adults. Ocular bartonellosis is the most common atypical manifestation of cat-scratch disease. It can present with a wide spectrum of ocular diseases including neuroretinitis, Parinaud's oculoglandular syndrome, and other forms of intra-ocular inflammation. This case report describes cat-scratch disease neuroretinitis in a 10-year-old girl who presented with typical signs, including optic disc swelling and a macular star, preceded by pyrexia of unknown origin and cervical lymphadenopathy.