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Journal of Pediatric Neurology 2023; 21(05): 384-387
DOI: 10.1055/s-0042-1756453
Case Report

Coffin–Siris Syndrome in a Patient with Hirschsprung's Disease—Expanding the Phenotype by Mutation ARID1B: A Case Report and Literature Review

Leonardo F. Freitas 
1   Department of Radiology, Universidade Federal de São Paulo, São Paulo-SP, Brazil
,
Lays S. Ribeiro 
1   Department of Radiology, Universidade Federal de São Paulo, São Paulo-SP, Brazil
,
Márcio L. Duarte 
2   Department of Evidence-based Health, Universidade Federal de São Paulo, São Paulo-SP, Brazil
,
Mayara O. da Silva 
3   Department of Radiology, Clínica Mega Imagem, Santos-SP, Brazil
,
Paula M. Ferreira 
4   Department of Pediatric Neurology, Clínica FORT, Varginha-MG, Brazil
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Abstract

Coffin–Siris syndrome (CSS) is a rare syndrome with autosomal dominant inheritance, and it is characterized by intellectual disability, hypotonia, aplasia/hypoplasia of the distal phalanx of fifth fingernail, feeding difficulties, growth restriction, short stature, speech delay, hirsutism/hypertrichosis, and thinning hair on the scalp. Hearing impairment has also been described in some patients. In this article, we describe the case of a male patient diagnosed with CSS who, at 15 days of life, underwent surgery for megacolon correction and a later intestinal biopsy revealed the affected segment compatible with Hirschsprung's disease (HSCR). This patient was found to have a variant in ARID1B (p. [Pro934Glnfs*5]) in a component of the BAF complex which plays an important role in regulating the expression and differentiation. In addition, it mediates responses to environmental signals resulting from an ATP-dependent chromatin remodeling complex. This case added a unique clinical characteristics and a rare genetic variant in the repertoire of CSS.

Keywords

Coffin–Siris syndrome - Hirschsprung's disease - mutation ARID1B - magnetic resonance imaging


Publikationsverlauf

Eingereicht: 17. Oktober 2022

Angenommen: 30. Juni 2022

Artikel online veröffentlicht:
15. September 2022

© 2022. Thieme. All rights reserved.

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