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Neonatal Type 2 Gaucher Disease with Congenital Ichthyosis: A Case Report
DC Field | Value | Language |
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dc.contributor.author | 박민수 | - |
dc.contributor.author | 박준식 | - |
dc.contributor.author | 백승환 | - |
dc.contributor.author | 신정은 | - |
dc.contributor.author | 오지영 | - |
dc.contributor.author | 유리타미영 | - |
dc.contributor.author | 은호선 | - |
dc.contributor.author | 한정호 | - |
dc.date.accessioned | 2023-02-08T05:37:30Z | - |
dc.date.available | 2023-02-08T05:37:30Z | - |
dc.date.issued | 2021-12 | - |
dc.identifier.issn | 2508-4887 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/192376 | - |
dc.description.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. | - |
dc.description.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.language | English | - |
dc.publisher | Korean Society of Perinatology | - |
dc.relation.isPartOf | Perinatology | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | Neonatal Type 2 Gaucher Disease with Congenital Ichthyosis: A Case Report | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아과학교실) | - |
dc.contributor.googleauthor | Hakmin Lee | - |
dc.contributor.googleauthor | Jiyoung Oh | - |
dc.contributor.googleauthor | Jungho Han | - |
dc.contributor.googleauthor | Min Jung Lee | - |
dc.contributor.googleauthor | Joonsik Park | - |
dc.contributor.googleauthor | Seung Hwan Baek | - |
dc.contributor.googleauthor | Rita Yu | - |
dc.contributor.googleauthor | Ho Seon Eun | - |
dc.contributor.googleauthor | Min Soo Park | - |
dc.contributor.googleauthor | Jeong Eun Shin | - |
dc.identifier.doi | 10.14734/PN.2021.32.4.208 | - |
dc.contributor.localId | A01468 | - |
dc.contributor.localId | A05130 | - |
dc.contributor.localId | A05882 | - |
dc.contributor.localId | A02152 | - |
dc.contributor.localId | A02399 | - |
dc.contributor.localId | A02462 | - |
dc.contributor.localId | A02635 | - |
dc.contributor.localId | A05064 | - |
dc.relation.journalcode | J03273 | - |
dc.identifier.eissn | 2508-4895 | - |
dc.subject.keyword | Gaucher disease | - |
dc.subject.keyword | Ichthyosis | - |
dc.subject.keyword | Infant | - |
dc.subject.keyword | Whole exome sequencing | - |
dc.subject.keyword | Case reports | - |
dc.contributor.alternativeName | Park, Min Soo | - |
dc.contributor.affiliatedAuthor | 박민수 | - |
dc.contributor.affiliatedAuthor | 박준식 | - |
dc.contributor.affiliatedAuthor | 백승환 | - |
dc.contributor.affiliatedAuthor | 신정은 | - |
dc.contributor.affiliatedAuthor | 오지영 | - |
dc.contributor.affiliatedAuthor | 유리타미영 | - |
dc.contributor.affiliatedAuthor | 은호선 | - |
dc.contributor.affiliatedAuthor | 한정호 | - |
dc.citation.volume | 32 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 208 | - |
dc.citation.endPage | 211 | - |
dc.identifier.bibliographicCitation | Perinatology, Vol.32(4) : 208-211, 2021-12 | - |
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