Death of a young girl with Rapunzel syndrome

A young girl with H syndrome and coeliac disease

H syndrome is an autosomal recessive genodermatosis with reports dating back to the last decade. This syndrome is caused by mutations in the SCL29A3 gene. The clinical characteristics of this syndrome consist of dermatological manifestations, including hyperpigmented, hypertrichotic, and indurated patches and plaques. It affects various systems by causing heart anomalies, hepatosplenomegaly, hy...

Rapunzel syndrome.

A trichobezoar may be confined to the stomach or unusually it may extend from stomach to the small intestine or beyond when it is labelled as Rapunzel syndrome. Bezoars are concretions in the gastrointestinal tract that increase in size by continuous accumulation of non-absorbable food or fibre. Most bezoars in children are trichobezoars from swallowed hair. Repunzal syndrome is an uncommon con...

bipolar disorder in a young girl with dandy-walker syndrome

dandy-walker syndrome is a congenital brain malformation involving the cerebellum and the fourth ventricle. the key features of this syndrome are mental retardation, cerebellar ataxia, and symptoms related to hydrocephaly. the psychiatric aspects of this syndrome have been insufficiently appreciated. described here is a 17- year- old girl with an acute manic episode emerged in the course of dan...

Rapunzel syndrome

'Rapunzel syndrome' trichobezoar in a 7-year-old girl: a case report

BACKGROUND Rapunzel syndrome is a rare type of trichobezoar with an extension of the hair into the small bowel. Clinical presentation is deceptive and vague ranging from abdominal mass to gastrointestinal symptoms. CASE PRESENTATION We present a 7 years old girl with Rapunzel syndrome, where the trichobezoar was not suspected at all especially with negative history of trichophagia. In majorit...