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.
Lindhard
A
A
Department of Obstetrics and Gynecology, Herlev Hospital, Copenhagen, Denmark.
Graem
N
N
Skovby
F
F
Jeppesen
D
D
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