Open AccessLissencephaly: Variant of LIS1 without Cerebellar Hypoplasia
Author(s) -
M. Pellegrino,
Anna Rosati,
Demian Battaglia,
De Santis M,
Rafael Paiva Luciano,
Antonio Lanzone,
Daniela Visconti
Publication year - 2019
Publication title -
integrative pediatrics and child care
Language(s) - English
Resource type - Journals
ISSN - 2637-966X
DOI - 10.18314/ipcc.v2i1.1695
Subject(s) - lissencephaly , cerebellar hypoplasia (non human) , hypoplasia , ventriculomegaly , medicine , cerebellum , pathology , anatomy , fetus , biology , genetics , gene , pregnancy
Classic lissencephaly is a rare and serious brain malformation classified in type 1 and type 2. Type 1 is associated with mutations in the human LIS1 gene, which are numerous and constantly discovered. We present a case of isolated fetal ventriculomegaly with subsequent and unexpected diagnosis of neonatal lissencephaly. The clinical manifestation does not match the genotype, often associated with cerebellar hypoplasia.