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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

Kuntal Sen 
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
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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.

Keywords

hydranencephaly - LAMB1 - α-dystroglycanopathy - whole genome sequencing


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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  • References

  • 1 Radmanesh F, Caglayan AO, Silhavy JL. et al. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet 2013; 92 (03) 468-474
    CrossrefPubMedSearch in Google Scholar
  • 2 Tonduti D, Dorboz I, Renaldo F. et al. Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations. Neurology 2015; 84 (21) 2195-2197
    CrossrefPubMedSearch in Google Scholar
  • 3 Pavone P, Praticò AD, Vitaliti G. et al. Hydranencephaly: cerebral spinal fluid instead of cerebral mantles. Ital J Pediatr 2014; 40: 79
    CrossrefPubMedSearch in Google Scholar
  • 4 Quek YW, Su PH, Tsao TF. et al. Hydranencephaly associated with interruption of bilateral internal carotid arteries. Pediatr Neonatol 2008; 49 (02) 43-47
    CrossrefPubMedSearch in Google Scholar
  • 5 Cecchetto G, Milanese L, Giordano R, Viero A, Suma V, Manara R. Looking at the missing brain: hydranencephaly case series and literature review. Pediatr Neurol 2013; 48 (02) 152-158
    CrossrefPubMedSearch in Google Scholar
  • 6 Meuwissen ME, de Vries LS, Verbeek HA. et al. Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly. Neurology 2011; 76 (09) 844-846
    CrossrefPubMedSearch in Google Scholar
  • 7 Rivière JB, Mirzaa GM, O'Roak BJ. et al; Finding of Rare Disease Genes (FORGE) Canada Consortium. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 2012; 44 (08) 934-940
    CrossrefPubMedSearch in Google Scholar