Chronic Niemann-Pick disease with sphingomyelinase deficiency in two brothers with mental retardation

Abstract

Clinical, biochemical, and electron microscopic studies are presented in two brothers with Niemann-Pick disease. The clinical features include hepatosplenomegaly and mental retardation without any other neurological signs. Roentgenograms of the chest showed bilateral diffuse reticular infiltration. The amounts of sphingomyelin and cholesterol in liver were increased, and sphingomyelinase activities in both liver and skin fibroblasts were markedly reduced in Case 1. Numerous foam cells and myelin figures were observed in the liver, kidneys, bone marrow, and lymph nodes on electron microscopical examination. These cases were regarded as a variant of Niemann-Pick disease from our investigations as they have mental retardation as an exceptional symptom when they are diagnosed as type B.

A new fluorimetric enzyme assay for the diagnosis of Niemann–Pick A/B, with specificity of natural sphingomyelinase substrate

“…As in most lysosomal storage diseases, the clinical spectrum of Niemann-Pick disease A-B * is increasingly considered as a continuum from the most severe presentation to relatively mild ones (Elleder et al 1986;Harzer et al 2003;Pavlu and Elleder 1997;Pavlu-Pereira et al 2005;Sogawa et al 1978).…”

A report of a patient with Niemann-Pick disease type B and a review of the patients in Japan

“…Sogawa et al (i976) who reported cases 1 and 2 described that mental retardations of these two cases was specific findings. These two patients were later reported as a variant type of Niemann-Pick disease, not as Type B (Sogawa et al, 1978). Case 3 is also atypicaI because of the presence of macular cherry-red spots.…”

“…In Japan, only three cases of Niemann-Pick disease showing chronic course of illness and profound sphingomyelinase deficiency have been reported (Sogawa et al, 1976;Sogawa et at., 1978;Uetani etal., 1978). Sogawa, H. et al (1976Sogawa, H. et al ( , 1978, case 3 was reported by Uetani, Y. et al (1978).…”

“…In these five groups, reports of type B are less frequent than those of types A and C. In Japan, only three cases of the chronic type of Niemann-Pick disease with a considerable sphingomyelinase deficiency have been found in children (Sogawa et al, 1976;Sogawa et al, 1978;Uetani et al, 1978).…”

Severe neuropsychiatric symptoms in two siblings with intermediate type of Niemann-Pick disease

“…Along with the classical type A and type B, atypical intermediate phenotype is increasingly recognized and is the predominant type in the Gypsy population, where it is caused by an ancestral mutation in SMPD1 [1][2][3][4]6]. Here we report on the clinical observations in two affected siblings from a non-consanguineous Gypsy family, illustrating the diverse neurological manifestations and the diagnostic difficulties that neurologists and psychiatrists may face.…”