Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes
D. A. Wenger, G. Barth and J. H. Githens
We describe nine Spanish-American children from five families with an
unusual hereditary lipid storage disease. The family origins were in two
small southern Colorado towns. The clinical course varied, but all of the
children were found to bruise easily and to have splenomegaly, while most
had hepatomegaly. Post-natal jaundice and hepatitis occurred in four.
Impairment of vertical gaze and intellectual and neurologic deterioration
occurred in most of the patients, with the onset of the disease, usually in
childhood. The bone marrow in all patients examined contained both foamy
and sea-blue histiocytes. Sphingomyelinase levels in skin fibroblast
cultures were greatly decreased in seven of the eight cases evaluated. It
is believed that these patients have a sphingomyelin lipidosis and
represent a variant of the Niemann-Pick disease. Clinical and enzymatic
findings are compared with those of other cases in the literature.