Fucosidosis in a Chinese boy: a case report and literature review

Fucosidosis is a rare lysosomal storage disease, resulting from a deficiency in an alpha-l-fucosidase enzyme. There are fewer than 120 cases of this disease worldwide and very few reported in Chinese children. Here, we report a Chinese boy presenting with psychomotor regression, dermatological abnor...

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Bibliographic Details
Published inJournal of international medical research Vol. 48; no. 4; p. 300060520911269
Main Authors Wang, Lingxing, Yang, Meili, Hong, Shanyan, Tang, Ting, Zhuang, Jiaxin, Huang, Honghong
Format Journal Article
LanguageEnglish
Published London, England SAGE Publications 01.04.2020
Sage Publications Ltd
SAGE Publishing
Subjects
Asian Continental Ancestry Group
Case Report
Case reports
Child
Fucosidosis - diagnostic imaging
Fucosidosis - pathology
Genetic disorders
Humans
Magnetic Resonance Imaging
Male
Mutation
Pelvis - diagnostic imaging
Spine - diagnostic imaging
Fucosidosis
alpha-l-fucosidase
telangiectasia
psychomotor regression
lysosomal storage disorder
FUCA1
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Summary:Fucosidosis is a rare lysosomal storage disease, resulting from a deficiency in an alpha-l-fucosidase enzyme. There are fewer than 120 cases of this disease worldwide and very few reported in Chinese children. Here, we report a Chinese boy presenting with psychomotor regression, dermatological abnormality, dysostosis multiplex, and classic changes observed with head magnetic resonance imaging. He was diagnosed with fucosidosis, with a previously reported homozygous mutation of c.393(exon2)T > A, p.Tyr131Stop, in the FUCA1 gene. Increasing awareness of fucosidosis will help in the early diagnosis of this disease and could shed light on the therapeutic role of hematopoietic stem cell transplantation, which may be effective in early stages of the disease.
Bibliography:ObjectType-Case Study-3
SourceType-Scholarly Journals-1
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ObjectType-Review-1
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These authors contributed equally to this work.
ISSN:0300-0605
1473-2300
DOI:10.1177/0300060520911269