RÉSUMÉ
We describe the main clinical and biochemical findings in 15 patients with peroxisomal disorders, together with the results of 11 prenatal investigations for Zellweger syndrome. The initial laboratory diagnosis depended in most cases on demonstration of elevated very long chain fatty acids in plasma, but follow-up studies using cultured fibroblasts were essential for complete classification. The patient group comprises nine cases of Zellweger syndrome, one of neonatal adrenoleucodystrophy, two of infantile Refsum disease, one of bifunctional protein deficiency, and two of rhizomelic chondrodysplasia punctata. The study illustrates the clinical and biochemical variability of this group of patients and the detailed studies that are required for classification.
Sujet(s)
Maladies péroxysomiales/diagnostic , Maladies péroxysomiales/génétique , Diagnostic prénatal , Cellules cultivées , Enfant , Enfant d'âge préscolaire , Femelle , Fibroblastes/anatomopathologie , Humains , Nouveau-né , Mâle , Maladies péroxysomiales/embryologie , Phénotype , Acide phytanique/sang , Grossesse , Échographie prénatale , Syndrome de Zellweger/diagnostic , Syndrome de Zellweger/embryologie , Syndrome de Zellweger/génétiqueRÉSUMÉ
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.