Lissencephaly, IgG subclass immunodeficiency, and a connective tissue disorder: a new syndrome?

Autor: Mohammad S. Ehlayel, Tawfeg Ben-Omran, Venkatraman Bhat, Ahmad S. Teebi
Rok vydání: 2009
Předmět:
Zdroj: Journal of Neurology. 256:2087-2090
ISSN: 1432-1459
0340-5354
DOI: 10.1007/s00415-009-5280-6
Popis: Dear Sir(s), Lissencephaly is a descriptive term referring to agyria/ pachygyria, regardless of its etiopathogenesis. Only LIS Type I is linked to abnormal neuronal migration. It is caused by three genetic mutations: LIS1, DCX and TUBA1A. LIS1 is associated with an isolated (MIM# ILS; 247200) or syndromic form (Miller Dieker syndrome, MIM# 607432). DCX is associated with an X-linked form. TUBA1A is associated with a newly identified form of LIS also linked to abnormal neuronal migration [1]. LIS type II (also called cobblestone) is due to abnormal glia limitans and overmigration of neuroglial cells into the arachnoid space, leading to hydrocephalus. LIS type II is autosomal recessive and linked to abnormal O-Glycolysation with at least six genes identified (POMT1, POMT2, POMGnt1, FKRP, Fukutine and LARGE). Syndromic forms of LIS II (Walker-Warburg, Muscle-Eye-Brain disease and Fukuyama) are associated with various degrees of hydrocephalus, agyria, retinal dysplasia with or without encephalocele and elevation of serum creatine phosphokinase. Lethal NeuLaxova syndrome [MIM# 256520] and Lissencephaly type III [MIM# 601160] are linked to an abnormal neuronal survival. Interestingly, affected patients show skin fragility [2] and bone dysplasia [3]. Norman-Roberts syndrome is considered a ‘‘private’’ syndrome. The association of lissencephaly, primary immunodeficiency, and a connective tissue disorder is unknown. The present report presents a new case of this association.
Databáze: OpenAIRE
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