Intestinal perforation is an uncommon but potentially fatal complication of intestinal tuberculosis. We report on a 63-year-old HIV-negative man who developed terminal ileal perforation approximately 3.5 months following initiation of anti-tuberculous treatment for pulmonary tuberculosis and a concomitant tuberculous perianal abscess. Clinical and radiological improvements were initially evident following commencement of anti-tuberculous treatment, and the paradoxical response phenomenon was suspected. The patient subsequently underwent surgical resection of the affected bowel segment with primary anastomosis, and made an uneventful recovery. Anti-tuberculous medication was continued for another 12 months, and after a further 12 months there was no evidence of recurrent tuberculosis. This case illustrates that tuberculous intestinal perforation can develop during chemotherapy for tuberculosis. Prompt diagnosis and appropriate surgical treatment are essential to avoid morbidity and mortality.

Intravenous leiomyomatosis is a rare neoplastic condition characterised by nodular masses of histologically benign smooth muscle growing within veins. In most cases, the disease is confined to the pelvic veins, but involvement may extend to the inferior vena cava and right heart chamber. We report the computed tomography features of a woman who developed extensive intravenous leiomyomatosis and lung metastases, and presented with acute-onset lower limb swelling.

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.