Second case of a successful pregnancy in maternal isovaleric acidaemia.

A female patient with isovaleric acidaemia had a successful outcome from pregnancy.

Primary papillary hyperplasia of the gallbladder: a rare cause of biliary colic.

Primary papillary hyperplasia of the gallbladder is a rare, poorly defined, clinicopathologic entity in adults. The authors describe a 12-year-old girl with this finding in the neck and body of the gallbladder. She presented with biliary colic, and ultrasonography of the gallbladder showed persistent thickening of the gallbladder wall but no evidence of calculi.

Pachydermoperiostosis in childhood.

We report a family with pachydermoperiostosis (idiopathic hypertrophic osteoarthropathy) spanning four generations with 10 affected individuals, four of whom are children although pachydermoperiostosis is rare in childhood. In this family, with intermarriage, the inheritance is autosomal recessive and it is possible that there are individuals who are homozygous for the pachydermoperiostosis gene. These individuals do not appear to be more severely affected, although one of them had a cleft palate and congenital heart defect which may be a manifestation of being homozygous.

Improvements in long term phototherapy for patients with Crigler-Najjar syndrome type I.

Patients with Crigler-Najjar syndrome Type I are being treated with long-term blue-light phototherapy into childhood, adolescence and beyond. Phototherapy systems adapted from sunbed-type bases fitted with blue-emitting fluorescent tubes have been described. These systems provided higher irradiances and improved patient compliance compared with overhead therapy systems used in neonatal phototherapy.