Germinal matrix hemorrhage in Zellweger syndrome.

[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 Nt 2098 insT , a frameshift with premature stop codon in exon 13 , as well as a novel second mutation at Nt 3038 G →A (Arg 1013 His ) 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 .

Diseases
Validation

Diseases presenting "hepatosplenomegaly" symptom

alpha-thalassemia

erdheim-chester disease

erythropoietic protoporphyria

gm1 gangliosidosis

homocystinuria without methylmalonic aciduria

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

severe combined immunodeficiency

waldenström macroglobulinemia

zellweger syndrome

This symptom has already been validated