Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant.

[zellweger syndrome]

Zellweger syndrome (cerebrohepatorenal syndrome ) is very rare and is the most severe form of peroxisomal biogenesis disorders . These can be caused by mutations in any of the currently known Peroxin genes and typically present in the neonatal period with multiorgan involvement . Patients usually do not survive beyond 1 year of age . This article reports a case of Zellweger syndrome in a male Native American infant confirmed by clinical findings , imaging studies , and biochemical analysis . Genetic studies show a novel mutation (c .3030 G >T , p . Glutamine 1010 Histidine ) altering the last nucleotide of exon 19 in the Peroxin 1 (PEX 1 ) gene .

Diseases
Validation

Diseases presenting "severe form" symptom

alpha-thalassemia

benign recurrent intrahepatic cholestasis

canavan disease

child syndrome

congenital adrenal hyperplasia

dentinogenesis imperfecta

dystrophic epidermolysis bullosa

fabry disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

harlequin ichthyosis

heparin-induced thrombocytopenia

hirschsprung disease

inclusion body myositis

kindler syndrome

lamellar ichthyosis

legionellosis

locked-in syndrome

megacystis-microcolon-intestinal hypoperistalsis syndrome

neonatal adrenoleukodystrophy

neuralgic amyotrophy

papillon-lefèvre syndrome

zellweger syndrome

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