Clinical presentation of congenital sialidosis in a patient with a neuraminidase gene frameshift mutation

Congenital sialidosis is a rare lysosomal storage disease caused by a prima ry neuraminidase deficiency which results from defects in the neuraminidase gene on chromosome 6p. The inheritance is autosomal recessive. Patients ex hibit excessive urinary excretion of bound sialic acid and decreased or und etectable amounts of neuraminidase activity in various tissues. The clinica l expression is variable, but ascites and hepatosplenomegaly are hallmarks of the disease. Skeletal abnormalities, facial dysmorphism and inguinal her niae have been described in most of the few reported cases. We describe a b aby girl with biochemically proven sialidosis, who in addition to the above clinical features, had severely dilated coronary arteries, excessive retin al vascular tortuosity and an erythematous, macular rash. Homozygosity for a frameshift mutation at residue 623 of the neuraminidase cDNA was found. W e speculate that the additional features found in our patient might be asso ciated with the here described genotype of congenital sialidosis. Conclusion Severely dilated coronary arteries, excessive retinal vascular t ortuosity and an erythematous macular rash might be associated features of congenital sialidosis.