2019: Articles in Press
Case Report

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

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 May 6, 2019
Keywords
  • Genetics,
  • Lissencephaly,
  • Magnetic resonance,
  • Prenatal diagnosis,
  • Ultrasound

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.

Metrics

Metrics Loading ...