Integrative Pediatrics and Child Care

Vol. 2 No. 1 (2019)
Case Report

Lissencephaly: Variant of LIS1 without Cerebellar Hypoplasia: Phenotype vs Genotype

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  • Pellegrino M,
  • Rosati A,
  • Battaglia D,
  • De Santis M,
  • Luciano R,
  • Lanzone A,
  • Visconti D
Pellegrino M
Foundation of the A. Gemelli University Hospital IRCCS, Rome - Department of Women’s Health, Child and Public Health Sciences - UOC Obstetrics and Obstetrics Pathology, Italy
Rosati A
Foundation of the A. Gemelli University Hospital IRCCS, Rome - Department of Women’s Health, Child and Public Health Sciences - UOC Obstetrics and Obstetrics Pathology, Italy
Battaglia D
Foundation of the A. Gemelli University Hospital IRCCS, Rome - Department of Women’s Health, Child and Public Health Sciences - UOC Child Neuropsychiatry, Italy
De Santis M
Foundation of the A. Gemelli University Hospital IRCCS, Rome - Department of Women’s Health, Child and Public Health Sciences - UOC Obstetrics and Obstetrics Pathology, Italy & Catholic University of the Sacred Heart, Rome - Study Center for the Protection of Health of the Mother and the Conceived, Institute of Obstetric and Gynecological Clinic, Italy
Luciano R
Foundation of the A. Gemelli University Hospital IRCCS, Rome - Department of Health Sciences of Women, Children and Public Health - UOC Pediatrics, Italy
Lanzone A
Foundation of the A. Gemelli University Hospital IRCCS, Rome - Department of Women’s Health, Child and Public Health Sciences - UOC Obstetrics and Obstetrics Pathology, Italy & Catholic University of the Sacred Heart, Rome - Study Center for the Protection of Health of the Mother and the Conceived, Institute of Obstetric and Gynecological Clinic, Italy
Visconti D
Foundation of the A. Gemelli University Hospital IRCCS, Rome - Department of Women’s Health, Child and Public Health Sciences - UOC Obstetrics and Obstetrics Pathology, Italy

Published 2019-05-06

Keywords

  • Genetics,
  • Lissencephaly,
  • Magnetic resonance,
  • Prenatal diagnosis,
  • Ultrasound
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Abstract

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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