A complicated case of ipsilateral fractures of the left femur and tibia after a road traffic accident is reported. The patient presented with numbness of the first web of his left foot and contracture of the extensor hallucis longus muscle, with fixed length deformity after intramedullary nailing of the femur and tibia. The extensor digitorum longus and tibialis anterior muscles were spared. Tinel’s sign could be elicited at the mid-portion of the anterior compartment of the injured leg. This indicated that the distal half of the anterior tibial nerve (deep peroneal nerve), together with the extensor hallucis muscle of the anterior compartment of the leg, had been damaged. The subsequent management of this patient is described.

A 4-year-old boy presented with multiple tuberous xanthomata and a fasting plasma sterol concentration of 18.3 mmol/L, consisting primarily of cholesterol. Two months after changing from an unrestricted diet to a cholesterol-lowering diet, the plasma sterol concentration decreased to 4 mmol/L. Fasting plasma cholesterol levels for his father and mother were 7.3 mmol/L and 6.0 mmol/L, respectively. The degree and rapidity of the child’s response to dietary control, together with the fasting cholesterol results of both parents suggested a diagnosis of sitosterolaemia. Gas chromatography and mass spectrometry of the patient’s plasma sterol levels showed that the percentage of beta-sitosterol was raised at 12.76%, as was campesterol (6.26%), and stigmasterol (0.71%), confirming the diagnosis of sitosterolaemia. The addition of cholestyramine 4 g/day to a low sterol diet maintained the plasma sterol concentration at 4 to 5 mmol/L, and gradual regression of the xanthoma was observed. These findings indicate that a diagnosis of sitosterolaemia, a treatable cause of premature atherosclerosis, should be considered in children with severe hypercholesterolaemia whose plasma cholesterol level is highly responsive to dietary manipulation.

In March 2003, an outbreak of severe acute respiratory syndrome started in Hong Kong. A 57-year-old woman had a typical presentation, including fever, non-productive cough, malaise, lymphopenia, and raised liver aminotransferases. The clinical course and successful treatment with convalescent plasma, ribavirin, and corticosteroids are discussed.

Isolated ventricular non-compaction is a rare congenital cardiomyopathy, manifested morphologically as prominent myocardial trabeculations and deep inter-trabecular recesses that communicate with the ventricular cavity. Heart failure is the most common presenting condition. Other manifestations include arrhythmia and cardioembolic events. This report is illustrative of isolated ventricular non-compaction in a 78-year-old woman. The diagnosis was made when she presented with ventricular tachycardia many years after a stroke. She subsequently underwent implantation of a cardioverter-defibrillator. This report documents an uncommon presentation of this disease entity in the oldest patient at presentation as yet reported in the literature.

Dihydropyrimidine dehydrogenase deficiency is an inborn error of pyrimidine metabolism characterised by thymine-uraciluria, convulsive disorders and developmental delay in paediatric patients, and an increased risk of toxicity from 5-fluorouracil treatment. This report is of the first patient with dihydropyrimidine dehydrogenase deficiency diagnosed in Hong Kong. The patient was a 2-day-old male neonate of Pakistani origin who presented with convulsions. Diagnosis was made by gas chromatographic-mass spectrometric detection of thymine-uraciluria and by molecular detection of a G to A point mutation in a 5’-splicing site leading to skipping of exon 14 in the DPYD gene of chromosome location 1q22. The results showed that the patient and his mother were homozygous and the father heterozygous for the splice site mutation. The mother also had thymine-uraciluria but was clinically asymptomatic.