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

Lingxing Wang; Meili Yang; Shanyan Hong; Ting Tang; Jiaxin Zhuang; Honghong Huang

doi:10.1177/0300060520911269

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

J Int Med Res. 2020 Apr;48(4):300060520911269. doi: 10.1177/0300060520911269.

Authors

Lingxing Wang¹, Meili Yang¹, Shanyan Hong¹, Ting Tang¹, Jiaxin Zhuang², Honghong Huang¹

Affiliations

¹ Department of Neurology, Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, China.
² Department of Pediatric Neurology, Quanzhou Children Hospital, Quanzhou, Fujian, China.

Abstract

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.

Keywords: FUCA1; Fucosidosis; alpha-l-fucosidase; lysosomal storage disorder; psychomotor regression; telangiectasia.

Publication types

Case Reports
Review

MeSH terms

Asian People
Child
Fucosidosis / diagnostic imaging
Fucosidosis / pathology*
Humans
Magnetic Resonance Imaging
Male
Pelvis / diagnostic imaging
Spine / diagnostic imaging