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Neonatal Type 2 Gaucher Disease with Congenital Ichthyosis: A Case Report

Authors
 Hakmin Lee  ;  Jiyoung Oh  ;  Jungho Han  ;  Min Jung Lee  ;  Joonsik Park  ;  Seung Hwan Baek  ;  Rita Yu  ;  Ho Seon Eun  ;  Min Soo Park  ;  Jeong Eun Shin 
Citation
 Perinatology, Vol.32(4) : 208-211, 2021-12 
Journal Title
Perinatology
ISSN
 2508-4887 
Issue Date
2021-12
Keywords
Gaucher disease ; Ichthyosis ; Infant ; Whole exome sequencing ; Case reports
Abstract
Gaucher disease (GD) is a rare autosomal recessive genetic disease. The symptoms and age of onset vary depending on the subtype. Type 2 GD is potentially lethal, and the mean lifespan is less than 2 years. Due to rapid disease progression, early diagnosis of type 2 GD is important. Here, we present an infant with congenital ichthyosis and rigidity with joint contracture, who later presented with bulbar involvement. Feeding difficulty, apnea, hepatosplenomegaly, and thrombocytopenia were also evident. She was diagnosed with type 2 GD via whole-exome sequencing, which showed 2 pathogenic variants in GBA as a compound heterozygote: Arg296Gln (c.887G>A) and Pro24His (c.719C>A). Congenital ichthyosis with progressive respiratory and neurologic impairment may be key clinical findings for the early diagnosis of type 2 GD.
Files in This Item:
T999202144.pdf Download
DOI
10.14734/PN.2021.32.4.208
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Park, Min Soo(박민수) ORCID logo https://orcid.org/0000-0002-4395-9938
Park, Joon Sik(박준식) ORCID logo https://orcid.org/0000-0002-4902-4770
Baek, Seung Hwan(백승환)
Shin, Jeong Eun(신정은) ORCID logo https://orcid.org/0000-0002-4376-8541
Oh, Ji Young(오지영) ORCID logo https://orcid.org/0000-0003-3552-8465
Yu, Rita(유리타미영)
Eun, Ho Seon(은호선) ORCID logo https://orcid.org/0000-0001-7212-0341
Han, Jung Ho(한정호) ORCID logo https://orcid.org/0000-0001-6661-8127
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/192376
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