RT Journal Article
SR Electronic
T1 Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 499
OP 504
DO 10.1136/jmg.27.8.499
VO 27
IS 8
A1 Viana, M B
A1 Giugliani, R
A1 Leite, V H
A1 Barth, M L
A1 Lekhwani, C
A1 Slade, C M
A1 Fensom, A
YR 1990
UL http://jmg.bmj.com/content/27/8/499.abstract
AB Very low serum levels of high density lipoprotein cholesterol ranging from 8.6 to 13.9 mg/dl were detected in four out of 12 sibs of a Brazilian kindred with the non-neuropathic form of Niemann-Pick disease. Hepatosplenomegaly, interstitial infiltration of the lungs, absence of neurological signs, sea-blue histiocytes in the bone marrow and liver, and high values for serum acid phosphatase (18 to 32 U/l) were common to all affected children. Leucocyte acid sphingomyelinase activity ranged from 3.6 to 6.5% of mean control values, and fibroblast activity from 9 to 13% of mean controls. The parents had low-normal levels. The relationship between these findings is unclear and deserves further investigation.