Zellweger syndrome in a preterm, small for gestational age infant.
A preterm (gestational age 34 weeks), small for gestational age infant (birth weight less than P2,3) is described. Because of unexplained slightly disturbed liver function tests at age 2 months, extensive metabolic examinations were performed. Elevated blood levels of very long-chain fatty acids, pipecolic acid and abnormal levels of bile acid intermediates were detected, suggesting a peroxisomal disorder. The plasmalogen content of erythrocytes was decreased. Morphologically distinct peroxisomes were absent in the liver. In fibroblasts an accumulation of very long-chain fatty acids, decreased activity of acyl-CoA:dihydroxyacetone phosphate acyltransferase and impaired de novo biosynthesis of plasmalogens was found. In summary, a mild variant of the classical cerebro-hepato-renal syndrome of Zellweger was found without the characteristic clinical facial signs.
Samsom
J F
JF
Department of Pediatrics, Free University Hospital, Amsterdam, The Netherlands.
Jakobs
C
C
van de Klei-van Moorsel
J
J
Smit
L M
LM
Schutgens
R B
RB
Wanders
R J
RJ
D001647:Bile Acids and Salts / Q000097:blood / Q000378:metabolism; D005227:Fatty Acids / Q000097:blood / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007234:Infant, Premature; D007236:Infant, Small for Gestational Age; D008099:Liver / Q000378:metabolism; D008297:Male; D008830:Microbodies / Q000378:metabolism; D015211:Zellweger Syndrome / Q000175:diagnosis* / Q000378:metabolism
D001647:Bile Acids and Salts; D005227:Fatty Acids