Lissencephaly: Variant of LIS1 without Cerebellar Hypoplasia | Zendy

M. Pellegrino | Zendy; Anna Rosati | Zendy; Demian Battaglia | Zendy; Marco De Santis | Zendy; Rafael Paiva Luciano | Zendy; Antonio Lanzone | Zendy; Daniela Visconti | Zendy

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Lissencephaly: Variant of LIS1 without Cerebellar Hypoplasia

Author(s) -

M. Pellegrino,

Anna Rosati,

Demian Battaglia,

Marco De Santis,

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.

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