[Early infantile form of Niemann-Pick disease type C. Apropos of 2 siblings].
We report two cases of Niemann-Pick disease in a sister and brother. Early jaundice was the first manifestation in both cases and was followed by cachexia and a rapidly fatal outcome. Neurologic involvement was obvious in both patients. Biologic phenotype was consistent with a diagnosis of type C sphingomyelinase, although clinical expression was different. These two cases should be classified within the infantile and early forms of Niemann-Pick disease type C. Antenatal diagnosis was performed during a third pregnancy. Enzyme activity assays on a specimen of trophoblast taken at the tenth week of gestation showed the fetus was not affected. This diagnosis was confirmed by a normal clinical evaluation at two months of life, and normal sphingomyelinase activity of cultured skin fibroblasts.
Kanoun
N
N
Trabelsi
M
M
Oueslati
A
A
Damergi
R
R
Ben Dridi
M F
MF
Boudhina
R
R
Bennaceur
B
B
D000367:Age Factors; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009542:Niemann-Pick Diseases / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis
Forme infantile précoce de maladie de Niemann-Pick type C. A propos de deux enfants dans une même fratrie.