Aicardi syndrome in a 47 XXY male - a variable developmental phenotype?

Abstract

BACKGROUND:

Aicardi syndrome (AS) is a rare neurodevelopmental disorder characterized by the triad of corpus callosum agenesis, chorioretinal lacunae, and infantile spasms. Most patients with AS also have intractable epilepsy, moderate to severe learning disability, and a reduced life expectancy. An X-linked dominant inheritance caused by de novo mutations pattern, lethal in males, is postulated, but the gene has not yet been isolated. There are three case reports of 47 XXY males with classic features of AS who all had severe developmental disability.

CASE REPORT:

We report a case of a 3.5-year old 47 XXY male with the classic triad of Aicardi syndrome but with good seizure control and mild learning disability.

• Authors: Jayakara Shetty, Jenny Fraser, David Goudie, Martin Kirkpatrick
• Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society (Eur J Paediatr Neurol) Vol. 18 Issue 4 Pg. 529-31 (Jul 2014) ISSN: 1532-2130 [Electronic] England
• PMID: 24657013 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Topics

• Aicardi Syndrome (genetics, pathology, physiopathology)
• Brain (pathology)
• Humans
• Infant
• Magnetic Resonance Imaging
• Male
• Sex Chromosome Aberrations