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

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.

Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series

“…Angiokeratomas, within the papillary dermis, are proliferative ectatic blood vessels limited by a flattened endothelium containing erythrocytes [ 58 ]. Some patients have only telangiectasia without angiokeratoma [ 18 ].…”

“…Cardiomyopathy is not a common feature [ 18 ] but mild mitral regurgitation was found in 50% of patients investigated [ 69 ]. An enlarged heart with left ventricular hypertrophy and dilatation of right cavity can be observed on an X-ray and the electrocardiogram may show incomplete right bundle branch block [ 8 ].…”

“…Intermittent otitis media, upper respiratory tract infections, and breathing difficulties during sleep as a result of partial upper airway obstruction were documented [ 70 ]. Moreover, a recurrent respiratory infection every 1 or 2 months, despite normal immunological tests [ 18 ] and diffuse emphysema with little areas of atelectasis of the lungs was previously observed [ 8 ].…”

“…Fucosidosis is an orphan disease with a very low incidence of <1/200,000 [ 15 ]. So far approximately 120 cases have been described [ 16 , 17 , 18 ]. The highest incidence has been described in Italy, in the Hispanic-American population of New Mexico and Colorado, and in Cuba [ 16 , 19 ].…”

The Identification of a Novel Fucosidosis-Associated FUCA1 Mutation: A Case of a 5-Year-Old Polish Girl with Two Additional Rare Chromosomal Aberrations and Affected DNA Methylation Patterns

“…For example, several symptoms resembling the clinical phenotype of our case have been reported in an eight-year-old Chinese boy with homozygous mutation within exon 2 (c.393(exon2)T>A). Among the symptoms were: coarse facial features, protruding forehead, arcuated eyebrows, broad eye gap, thick lips and maculopapular rash (and suspected telangiectasia) [ 33 ].…”