An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis)
Abstract Background Fucosidosis is one of the rare autosomal recessive lysosomal storage diseases (LSDs) attributed to FUCA1 variants causing the deficiency of α-L-fucosidase in vivo. Α-L-fucosidase deficiency will cause excessive accumulation of fucosylated glycoproteins and glycolipids, which even...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-07-01
|
| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12887-022-03414-y |
| _version_ | 1811293635021373440 |
|---|---|
| author | Shao-Jia Mao Jia Zhao Zheng Shen Chao-Chun Zou |
| author_facet | Shao-Jia Mao Jia Zhao Zheng Shen Chao-Chun Zou |
| author_sort | Shao-Jia Mao |
| collection | DOAJ |
| description | Abstract Background Fucosidosis is one of the rare autosomal recessive lysosomal storage diseases (LSDs) attributed to FUCA1 variants causing the deficiency of α-L-fucosidase in vivo. Α-L-fucosidase deficiency will cause excessive accumulation of fucosylated glycoproteins and glycolipids, which eventually leads to dysfunction in all tissue systems and presents with multiple symptoms. Fucosidosis is a rare disease which is approximately 120 cases have been reported worldwide (Wang, L. et al., J Int Med Res 48, 1-6, 2020). The number of reported cases in China is no more than 10 (Zhang, X. et al., J Int Med Res 49:3000605211005975, 2021). Case presentation The patient was an 8-year-old Chinese boy who presented with postnatal motor retardation, intellectual disability, short stature, language development retardation, coarse facial features, hepatomegaly, and diffuse angiokeratoma of both palms. His genetic testing showed the presence of a homozygous pathogenic variant (c.671delC) in the FUCA1 gene. In addition, the enzymatic activity of α-L-fucosidase was low. Ultimately, the patient was diagnosed with fucosidosis. Conclusions Fucosidosis is a rare lysosomal storage disease because of FUCA1 variants that cause the deficiency of α-L-fucosidase in vivo. An explicit diagnosis requires a combination of clinical manifestations, imaging examination, genetic testing and enzyme activity analysis. Early diagnosis plays an important role in fucosidosis. |
| first_indexed | 2024-04-13T05:05:22Z |
| format | Article |
| id | doaj.art-671fde70e42f40ef8f061b6a5f953bd3 |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-04-13T05:05:22Z |
| publishDate | 2022-07-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-671fde70e42f40ef8f061b6a5f953bd32022-12-22T03:01:12ZengBMCBMC Pediatrics1471-24312022-07-012211510.1186/s12887-022-03414-yAn unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis)Shao-Jia Mao0Jia Zhao1Zheng Shen2Chao-Chun Zou3Department of Endocrinology, the Children’s Hospital of Zhejiang University School of MedicineDepartment of Endocrinology, the Children’s Hospital of Zhejiang University School of MedicineDepartment of Endocrinology, the Children’s Hospital of Zhejiang University School of MedicineDepartment of Endocrinology, the Children’s Hospital of Zhejiang University School of MedicineAbstract Background Fucosidosis is one of the rare autosomal recessive lysosomal storage diseases (LSDs) attributed to FUCA1 variants causing the deficiency of α-L-fucosidase in vivo. Α-L-fucosidase deficiency will cause excessive accumulation of fucosylated glycoproteins and glycolipids, which eventually leads to dysfunction in all tissue systems and presents with multiple symptoms. Fucosidosis is a rare disease which is approximately 120 cases have been reported worldwide (Wang, L. et al., J Int Med Res 48, 1-6, 2020). The number of reported cases in China is no more than 10 (Zhang, X. et al., J Int Med Res 49:3000605211005975, 2021). Case presentation The patient was an 8-year-old Chinese boy who presented with postnatal motor retardation, intellectual disability, short stature, language development retardation, coarse facial features, hepatomegaly, and diffuse angiokeratoma of both palms. His genetic testing showed the presence of a homozygous pathogenic variant (c.671delC) in the FUCA1 gene. In addition, the enzymatic activity of α-L-fucosidase was low. Ultimately, the patient was diagnosed with fucosidosis. Conclusions Fucosidosis is a rare lysosomal storage disease because of FUCA1 variants that cause the deficiency of α-L-fucosidase in vivo. An explicit diagnosis requires a combination of clinical manifestations, imaging examination, genetic testing and enzyme activity analysis. Early diagnosis plays an important role in fucosidosis.https://doi.org/10.1186/s12887-022-03414-yFucosidosisLysosomal storage diseaseα-L-fucosidaseAll tissue systemsFUCA1 |
| spellingShingle | Shao-Jia Mao Jia Zhao Zheng Shen Chao-Chun Zou An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis) BMC Pediatrics Fucosidosis Lysosomal storage disease α-L-fucosidase All tissue systems FUCA1 |
| title | An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis) |
| title_full | An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis) |
| title_fullStr | An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis) |
| title_full_unstemmed | An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis) |
| title_short | An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis) |
| title_sort | unusual presentation of fucosidosis in a chinese boy a case report and literature review childhood fucosidosis |
| topic | Fucosidosis Lysosomal storage disease α-L-fucosidase All tissue systems FUCA1 |
| url | https://doi.org/10.1186/s12887-022-03414-y |
| work_keys_str_mv | AT shaojiamao anunusualpresentationoffucosidosisinachineseboyacasereportandliteraturereviewchildhoodfucosidosis AT jiazhao anunusualpresentationoffucosidosisinachineseboyacasereportandliteraturereviewchildhoodfucosidosis AT zhengshen anunusualpresentationoffucosidosisinachineseboyacasereportandliteraturereviewchildhoodfucosidosis AT chaochunzou anunusualpresentationoffucosidosisinachineseboyacasereportandliteraturereviewchildhoodfucosidosis AT shaojiamao unusualpresentationoffucosidosisinachineseboyacasereportandliteraturereviewchildhoodfucosidosis AT jiazhao unusualpresentationoffucosidosisinachineseboyacasereportandliteraturereviewchildhoodfucosidosis AT zhengshen unusualpresentationoffucosidosisinachineseboyacasereportandliteraturereviewchildhoodfucosidosis AT chaochunzou unusualpresentationoffucosidosisinachineseboyacasereportandliteraturereviewchildhoodfucosidosis |