CC BY-NC-ND 4.0 · AJP Rep 2021; 11(01): e26-e28
DOI: 10.1055/s-0040-1722728
Case Report

Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy

1   Division of Neurogenetics and Developmental Pediatrics, Children's National Hospital, Washington, District of Columbia
,
Shagun Kaur
2   Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan
,
David W. Stockton
2   Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan
,
Mary Nyhuis
3   Department of Prenatal and Cancer Genetics, Henry Ford Health System, Detroit, Michigan
,
Jacquelyn Roberson
3   Department of Prenatal and Cancer Genetics, Henry Ford Health System, Detroit, Michigan
› Author Affiliations

Abstract

Case Report A 32-year-old female with a history of three prior pregnancy losses presented for genetic testing following an ultrasonography diagnosis of fetal hydranencephaly. Baby was born via C-section and was noted to have a head circumference of 48 cm, in addition to ocular and cardiac anomalies and dysmorphic features. Whole genome sequencing revealed a homozygous variant in LAMB1 gene.

Discussion The pathobiogenesis of hydranencephaly is incompletely understood and is attributed to vascular, infectious, or genetic etiology. Herein we present LAMB1 as a monogenic cause of fetal hydranencephaly which was incompatible with life. Previously, LAMB1-associated phenotype consisted of cobblestone lissencephaly and hydrocephalus, developmental delay, and seizures. Our proband expands the phenotypic spectrum of this malformative encephalopathy.



Publication History

Received: 27 April 2020

Accepted: 06 November 2020

Article published online:
01 February 2021

© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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