Germinal matrix hemorrhage in Zellweger syndrome.
A term male newborn was noted to have severe diffuse hypotonia, hyporeflexia, hepatosplenomegaly, and characteristic abnormal facies of Zellweger syndrome, the diagnosis of which was confirmed by identification of 2 mutations including Nt2098insT, a frameshift with premature stop codon in exon 13, as well as a novel second mutation at Nt3038G→A (Arg1013His) on skin fibroblast testing. His brain magnetic resonance imaging (MRI) demonstrated bilateral germinolytic cysts with unilateral hemorrhagic transformation. Germinolytic cysts are one of the characteristic radiographic features of Zellweger syndrome, but germinal matrix hemorrhage has never been reported. Germinal matrix hemorrhage is common in premature infants, but found in only 4% of normal term infants. Germinal matrix hemorrhage was seen in a case of Zellweger syndrome with a novel mutation.
Takenouchi
Toshiki
T
Division of Pediatric Neurology, Department of Pediatrics, New York Presbyterian Hospital, Weill Cornell Medical College, New York, New York, USA. tot9005@nyp.org
Raju
G Praveen
GP
D001921:Brain / Q000473:pathology; D002543:Cerebral Hemorrhage / Q000150:complications* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D015211:Zellweger Syndrome / Q000150:complications* / Q000235:genetics* / Q000473:pathology