Postmortem findings and prenatal diagnosis of Zellweger syndrome. Case report.
The postmortem findings of siderosis, renal cortical cysts, pachygyria, cortical heterotopia of the brain and cerebellar hypoplasia in a seven-week-old infant with craniofacial dysmorphism and hypotonia prompted the diagnosis of Zellweger syndrome. This was confirmed by analysis of very-long-chain fatty acids in blood spots from filter paper, collected in the neonatal period, and allowed first trimester diagnosis in the subsequent pregnancies.
Department of Obstetrics and Gynecology, Herlev Hospital, Copenhagen, Denmark.
A
A
Lindhard
N
N
Graem
F
F
Skovby
D
D
Jeppesen
D001344:Autopsy; D005147:Facial Bones / Q000002:abnormalities; D005227:Fatty Acids / Q000097:blood; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis / Q000473:pathology; D011296:Prenatal Diagnosis; D012806:Siderosis / Q000175:diagnosis / Q000473:pathology; D012868:Skin Abnormalities; D015211:Zellweger Syndrome / Q000175:diagnosis* / Q000473:pathology
D005227:Fatty Acids