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Zellweger (Cerebro-Hepato-Renal) syndrome: First Brazilian case with confirmed peroxisomal defect

Maria Raquel Carvalho^I; Roberto Giugliani^I; Renato Machado Fiori^II; Luza Barcellos^II; Jaderson Costa da Costa^III

^IUnidade de Genética Médica do Hospital das Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90210 Porto Alegre, RS, Brasil. Send correspondence to K.G.
^IIServiço de Neonatologia do Hospital São Lucas da PUCRGS, Av. Ipiranga, 6690, 90610 Porto Alegre, RS, Brasil
^IIIServiço de Neurologia do Hospital São Lucas da PUCRGS, Av. Ipiranga, 6690, 90610 Porto Alegre, RS, Brasil

ABSTRACT

Zellweger syndrome (ZS) is a recessive disorder caused by a generalized failure in the peroxisomal metabolism. It is an illustrative example of an inherited metabolic disease that is usually noticed in the neonatal period due to its typical dismorphic features. Though suspicion of ZS is frequently raised in neonatal units, diagnosis is seldom confirmed as it should be based on sophisticated biochemical procedures. In this paper we describe a case of ZS that, to the best of our knowledge, is the first Brazilian report where the peroxisomal defect was biochemically confirmed. We stress the importance of the biochemical confirmation of ZS, as it enables not only a better delineation of the ZS phenotype, but mainly because it allows the prevention of further cases through genetic counseling and prenatal diagnosis.

Keywords: Zellweger syndrome; Brazilian case; Peroxisomal defect.

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