Infantile lethal neuraminidase deficiency (sialidosis).
An infant suffering from failure to thrive, hepatosplenomegaly, developmental retardation and early infantile death is described. The proposita demonstrated a type 2 early infantile sialidosis with onset at birth, and death at 4 months. A culture of the proband's fibroblasts showed neuraminidase deficiency, and low activity of the enzyme was found in the lymphocytes of both parents. A previous female child, born prematurely, died 6 h after birth and had hepatosplenomegaly and foam cells in the placenta. There is strong evidence that the inheritance of the disease is autosomal recessive.
D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008099:Liver / Q000473:pathology; D009439:Neuraminidase / Q000172:deficiency*; D010375:Pedigree; D013154:Spleen / Q000473:pathology
D009439:Neuraminidase