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ERIC Number: EJ850517
Record Type: Journal
Publication Date: 2008-Jun
Pages: 4
Abstractor: As Provided
Reference Count: 15
ISSN: ISSN-0012-1622
Bilateral Periventricular Nodular Heterotopia and Lissencephaly in an Infant with Unbalanced t(12;17)(q24.31; p13.3) Translocation
Grosso, Salvatore; Fichera, Marco; Galesi, Ornella; Luciano, Daniela; Pucci, Lucia; Giardini, Francesca; Berardi, Rosario; Balestri, Paolo
Developmental Medicine & Child Neurology, v50 n6 p473-476 Jun 2008
Periventricular nodular heterotopia and Miller-Dieker syndrome are two different disorders of brain development. Miller-Dieker syndrome exhibits classical lissencephaly and is related to defects in the lissencephaly gene ("LIS1"). Periventricular nodular heterotopia is characterized by aggregates of grey matter adjacent to the lateral ventricle and is mainly linked to mutations in the "Filamin A (FLNA)" gene. We describe a male infant presenting with facial dysmorphisms resembling those of Miller-Dieker syndrome, neuromotor delay, and drug-resistant infantile spasms. Magnetic resonance imaging of the brain showed periventricular nodular heterotopia overlaid by classical lissencephaly with complete agyria. Cytogenetic and molecular investigations detected a maternally inherited unbalanced translocation involving chromosome arms 17p and 12q. This resulted in partial monosomy of 17p13.3 [right arrow]pter and partial trisomy of 12q24.3[right arrow]qter No mutation was found in the "FLNA" gene. The patient died at the age of 22 months from respiratory insufficiency during an infection of the lower respiratory tract. Our observation extends the list of the overlying cortical malformations associated with periventricular nodular heterotopia. It remains to be established whether this peculiar neuronal migration disorder represents a phenotype totally linked to 17q13.3 deletion or results from a combination of gene defects at 17q13.3 and 12q24.3.
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Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A