[A child with Zellweger's cerebrohepatorenal syndrome].
A child suffering from the cerebro-hepato-renal syndrome of Zellweger is presented. The clinical features are hypotonia, slow or absent feeding, profound psychomotor retardation, severe impairment of hearing, disturbed visual acuity and a characteristic facial appearance including high forehead and large fontanels. The biochemical abnormalities are disturbed liver function tests, increased concentration of pipecolic acid in serum, cerebrospinal fluid and urine, di- and trihydroxycoprostanic acid detectable in bile, serum and urine and an increased excretion of para-hydroxy-phenyllactate in urine.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005147:Facial Bones / Q000002:abnormalities; D005808:Genes, Recessive; D006529:Hepatomegaly / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D007690:Polycystic Kidney Diseases / Q000235:genetics*; D011596:Psychomotor Disorders / Q000235:genetics*; D012886:Skull / Q000002:abnormalities; D013577:Syndrome
Een kind met het cerebro-hepato-renaal syndroom van Zellweger.