An 81-year-old Chinese woman presented with a 1-week history of increasing facial puffiness. She had 2:1 second-degree heart block and a permanent pacemaker that had been inserted 3 years previously because of syncopal episodes. Physical examination revealed facial plethora, dilated upper trunk veins, and oedematous upper limbs suggestive of superior vena cava obstruction syndrome. This was confirmed on urgent computed tomographic scan of the thorax. There was no evidence of extrinsic compression or formation of intraluminal thrombus. The underlying aetiology was a pacemaker-induced fibrotic stricture that was successfully treated with balloon venoplasty. At 3-month follow-up, the patient remained symptom-free with normal pacemaker function.

We report on a post-renal transplant patient who presented with delayed pubertal development at the age of 15 years. She had a normal female phenotype. Blood analysis showed hypergonadotropic hypogonadism. Her karyotype was 46,XY. DNA analysis showed a heterozygous mutation in the WT1 gene (C to T mutation at position +4 of the splice donor site within intron 9). A diagnosis of Frasier syndrome was made and she underwent laparoscopic gonadectomy. This case illustrates that, while delayed puberty is common in children with chronic illness, clinicians should be particularly aware of the possibility of Frasier syndrome in those with progressive glomerulopathy and delayed puberty. DNA analysis is a useful means of confirming the diagnosis.

Wilson’s disease, an autosomal recessive disorder of copper metabolism, is the most common inherited hepatic disease in Hong Kong. Diagnosis is based on the presence of Kayser-Fleischer rings, typical neurological symptoms, and/or a low serum ceruloplasmin concentration (<0.20 g/L). Early detection and treatment protect patients and their presymptomatic siblings from devastating organ damage. The diagnosis of Wilson’s disease may nonetheless be overlooked if only established clinical and laboratory tests are used as diagnostic criteria. We report diagnosis of the disorder using genetic analysis of ATP7B in a presymptomatic sibling who escaped diagnosis during family screening 18 years previously. The patient was 11 months old when family screening was performed following diagnosis of Wilson’s disease in an elder sister. The boy was considered to be unaffected on the basis of laboratory results in the expected range: serum copper level, 4.6 micromol/L; serum ceruloplasmin level, 0.16 g/L; and 24-hour urinary copper excretion, 0.14 micromol/day. Molecular analysis of ATP7B was performed; it revealed that the two siblings shared the same compound heterozygous mutations (G943D and 2299delC). We recommend that molecular diagnosis is the only definitive means of diagnosing Wilson’s disease in children younger than 1 year.

We report seven consecutive episodes of acute massive haemolysis accompanied by symptomatic anaemia and gross haemoglobinuria in six boys with glucose-6-phosphate dehydrogenase deficiency seen in a regional hospital during a 12-year period. They presented at a mean age of 5.5 years (range, 1.5-11.3 years) with trough haemoglobin levels between 35 and 84 g/L. Two children developed transient renal impairment. Five children required erythrocyte transfusion, of whom one underwent exchange transfusion during the oliguric phase. Three patients required intensive care but all recovered from the haemolysis. The probable precipitating factors included consumption of fava beans (n=2), exposure to mothballs (n=1), treatment with herbal medicine or intramuscular injection of unknown nature (n=3), and upper respiratory tract infection (n=1). Although uncommon, acute massive haemolysis remains a life-threatening complication in children with glucose-6-phosphate dehydrogenase deficiency. Improvement in patient education and public health measures is suggested.

Dementia is a common medical problem that affects elderly patients. We report on a 77-year-old man with an intracranial dural arteriovenous fistula who presented with dementia that was initially thought to be irreversible and degenerative. Subsequent neuroendovascular intervention resulted in significant functional and cognitive improvement.