| Literature DB >> 12697431 |
Katya A Tambe1, S V Ambekar, P N Bafna.
Abstract
Delleman syndrome involves a group of congenital abnormalities affecting the eye, skin and central nervous system. It is a rare and sporadic disorder. We report on a 4-year-old male child who presented to us with oculocerebrocutaneous syndrome featuring: focal alopecia on the left side of the scalp, left periorbital skin appendages, a left-sided orbital dermoid, a large left-sided intracranial cyst,optic atrophy. About 35 such cases have been reported in the literature so far. To our knowledge optic atrophy associated with oculocerebrocutaneous syndrome has not been reported previously. Our patient had only a single seizure and his IQ was normal.Entities:
Mesh:
Year: 2003 PMID: 12697431 DOI: 10.1016/s1090-3798(03)00017-5
Source DB: PubMed Journal: Eur J Paediatr Neurol ISSN: 1090-3798 Impact factor: 3.140