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Joubert syndrome with bilateral polymicrogyria: Clinical and neuropathological findings in two brothers

✍ Scribed by L. Giordano; A. Vignoli; L. Pinelli; F. Brancati; P. Accorsi; F. Faravelli; R. Gasparotti; T. Granata; G. Giaccone; F. Inverardi; C. Frassoni; B. Dallapiccola; E.M. Valente; R. Spreafico

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
172 KB
Volume
149A
Category
Article
ISSN
1552-4825

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✦ Synopsis

Abstract

Joubert syndrome (JS) is characterized by hypotonia, ataxia, developmental delay, and a typical neuroimaging finding, the so‐called “molar tooth sign” (MTS). The association of MTS and polymicrogyria (PMG) has been reported as a distinct JS‐related disorder (JSRD). So far, five patients have been reported with this phenotype, only two of them being siblings. We report on one additional family, describing a living child with JS and PMG, and the corresponding neuropathological picture in the aborted brother. No mutations were detected in the AHI1 gene, the only so far associated with the JS + PMG phenotype. Moreover, linkage analysis allowed excluding all known gene loci, suggesting further genetic heterogeneity. © 2009 Wiley‐Liss, Inc.

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