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Lissencephaly with Brainstem Hypoplasia and Dysplasia: Think MACF1


Bölsterli, Bigna K; Steindl, Katharina; Kottke, Raimund; Steinfeld, Robert; Boltshauser, Eugen (2021). Lissencephaly with Brainstem Hypoplasia and Dysplasia: Think MACF1. Neuropediatrics:Epub ahead of print.

Abstract

In 2018, Dobyns et al reported de novo MACF1 variants in eight children with a complex brain malformation[1]: diffuse pachygyria with more severe posterior involvement; flat ventral brainstem with - incosistently - a tiny bump on the ventral surface; pontine clefts, and wiede and flat medulla with visible pyramids on the ventral surface. This pattern appeared likely pathognomonic. Clinical features were severe developmental delay, spasticity, and seizures within the first year.

We found this imaging pattern (>[Fig. 1]) while reviewing unsolved brainstem malformations in an infant presenting in 2006 with infantile spams and microcephaly. On follow-up, this girl had treatment-resistant epilepsy, severe cognitive impairment, no speech, pronounced spastic cerebral palsy resulting in scoliosis, hip dislocation, and multiple contractures, requiring orthopedic interventions. Swallowing was not impaired. Targeted genetic testing confirmed a pathogenic de novo MACF1 variant [c.15682G>T p.(Asp5228Tyr)]. This observation confirms the value of careful pattern recognition[2] and supports the view that this pattern is likely pathognomonic.

Abstract

In 2018, Dobyns et al reported de novo MACF1 variants in eight children with a complex brain malformation[1]: diffuse pachygyria with more severe posterior involvement; flat ventral brainstem with - incosistently - a tiny bump on the ventral surface; pontine clefts, and wiede and flat medulla with visible pyramids on the ventral surface. This pattern appeared likely pathognomonic. Clinical features were severe developmental delay, spasticity, and seizures within the first year.

We found this imaging pattern (>[Fig. 1]) while reviewing unsolved brainstem malformations in an infant presenting in 2006 with infantile spams and microcephaly. On follow-up, this girl had treatment-resistant epilepsy, severe cognitive impairment, no speech, pronounced spastic cerebral palsy resulting in scoliosis, hip dislocation, and multiple contractures, requiring orthopedic interventions. Swallowing was not impaired. Targeted genetic testing confirmed a pathogenic de novo MACF1 variant [c.15682G>T p.(Asp5228Tyr)]. This observation confirms the value of careful pattern recognition[2] and supports the view that this pattern is likely pathognomonic.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > Pediatrics, Perinatology and Child Health
Health Sciences > Neurology (clinical)
Uncontrolled Keywords:Pediatrics, Perinatology, and Child Health, Clinical Neurology, General Medicine
Language:English
Date:28 January 2021
Deposited On:19 Feb 2021 16:05
Last Modified:20 Feb 2021 21:00
Publisher:Georg Thieme Verlag
ISSN:0174-304X
OA Status:Closed
Publisher DOI:https://doi.org/10.1055/s-0040-1722690

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