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Infantile lethal neuraminidase deficiency (sialidosis)
Author(s) -
Laver J.,
Fried K.,
Beer S. I.,
Iancu T. C.,
Heyman E.,
Bach G.,
Zeigler M.
Publication year - 1983
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1983.tb01855.x
Subject(s) - hepatosplenomegaly , failure to thrive , proband , autosomal recessive inheritance , neuraminidase , medicine , disease , biology , pediatrics , immunology , genetics , mutation , gene , virus
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.