We report the clinical, biochemical, neuroradiological, and neurophysiological findings of a 4-year-old Chinese girl with infantile isolated sulphite oxidase deficiency. This is the first reported case in our locality. She presented at the age of 5 months with refractory seizures and developmental regression, and progressed rapidly to profound psychomotor retardation, spasticity, dystonia, microcephaly, and blindness. At the age of 3.5 years, she was admitted to the intensive care unit with septic shock. Ophthalmologic examination at this time revealed bilateral dislocation of the lens. Diagnosis of this very rare disorder was made on the basis of increased levels of urinary sulphite, thiosulphate, and sulphocysteine; normal urine xanthine and hypoxanthine; normal plasma uric acid; and low plasma cystine levels. The diagnosis was confirmed by the absence of sulphite oxidase activities in skin fibroblasts. Isolated sulphite oxidase deficiency is a rare inborn error of sulphur metabolism that is difficult to diagnose on clinical features and routine metabolic tests. The presence of ectopia lentis, seizures, and progressive neurological abnormalities should alert clinicians to the diagnosis.

Malassezia furfur is the lipophilic yeast which causes tinea versicolor and is an uncommon cause of fungaemia. It usually occurs in the context of hyperalimentation with lipid emulsion, immunosuppression, or the presence of a central venous catheter. We report a case of a ventilator-dependent patient who developed Malassezia furfur fungaemia in the absence of these known risk factors. A likely risk factor in this patient was receipt of multiple courses of broad-spectrum antibiotics. This case highlights the importance of recognising Malassezia furfur as a cause of fungaemia, as well as the need for special culture techniques to aid identification.

We report an unusual case of skull metastasis secondary to thyroid carcinoma in an adolescent girl. The 18-year-old presented with an occipital scalp swelling of 5 years’ duration. She reported having thyroid surgery in mainland China 10 years previously. Radiological investigations on presentation demonstrated a lytic hypervascular skull lesion. Preoperative angiography and embolisation was followed by surgical excision. Pathological examination showed the lesion to be a thyroid carcinoma with a predominantly follicular pattern and a completion hemithyroidectomy was subsequently performed. Computed tomography of the thorax showed small micronodules in both lung fields compatible with metastases. The patient was given whole body iodine-131 internal radiation treatment and subsequently commenced thyroid-stimulating hormone–suppressive treatment with thyroxine. The management of thyroid carcinoma and subsequent skull metastasis in children and adolescents is reviewed and controversial points are highlighted.

We report an unusual case of disseminated intravascular coagulation. Occult pulmonary embolism is a recognised cause of disseminated intravascular coagulation. Unexplained shock should prompt the physician to search for a thrombotic cause such as pulmonary thromboembolism.

We report on three patients with lead poisoning following use of the Chinese herbal pill Bao ning dan, prepared by the same traditional Chinese medicine practitioner. The patients had varying degrees of exposure to Bao ning dan and different clinical manifestations. Blood lead concentrations did not correlate with clinical severity. Two patients received chelating therapy and blood lead concentrations subsequently rapidly decreased. One patient was managed conservatively and end-organ complications resolved gradually. With increasing use of traditional Chinese medicines, related adverse reactions are expected to become increasingly common. Practitioners of western medicine should remain alert to this possibility. A comprehensive drug review, including the use of herbal medicines, should form a routine part of medical history taking.