A case of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) associated with epilepsy
Takemura, T.; Yoshioka, K.; Okada, M.
No to Hattatsu 26(5): 434-438
1994
ISSN/ISBN: 0029-0831 PMID: 7917495 Document Number: 422610
We reported here a case of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome (TRPS) type II) associated with epilepsy. TRPS type II is an uncommon genetic disease characterized by sparse, slowly growing scalp hair, pear-shaped nose, multiple cartilagenous exostosis and mental retardation associated with delayed speech development. This patient displayed typical features of this syndrome. He also showed arachnoid cyst in the frontal area on computer tomography of the brain, and paroximal activities on EEG. Chromosomal analysis revealed a partial deletion of the long arm of chromosome 8. He had afebrile convulsion which is a rare complication of this syndrome.