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ISSN 2007-5294 (Print)
Confederación Nacional de Pediatría de México, A. C. (CONAPEME)

2009, Number 1

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Pediatr Mex 2009; 11 (1)

Syndrome of Zellweger (brain-hepatic-renal). A case report

Valdez GCM, Martínez JCE, García-Arias S, Mayeda GL, Zavala RMG

Language: Spanish
References: 30
Page: 29-34
PDF size: 143.37 Kb.


ABSTRACT

Peroxisome is a sub-cellular organelle that is present in eukaryotic cells. Peroxisomes are in charge of beta-oxidation of very long-chain fatty acids of very long chain. It synthesizes plasmalogens, docohexaenoic acid, sub-celullar mielinic compounds, biliary acids, prostaglandins, mevalonate, and it also detoxifies phytanic acid. Peroxisomal diseases are sub-divided into two sub-groups; the first group is characterized by prevented biogenesis, taking part of Zellweger’s Syndrome, whose most serious and typical illustrative model is neonatal adrenoleukodystrophy, infantile Refsum’s disease and rhizomelic chondrodysplasia punctata. The second group, manifested by peroxisomal enzymatic deficiencies, presents adrenoleukodistrophy linked to X, neonatal pseudo leukodistrophy, Pseudo-Zellweger Syndrome, deficiency of bifunctional enzyme, deficiency of acetyltransferase DHAP, and Refsum’s disease. Typically, there is an increase in very long-chain fatty acids: 26:0 y 26:1 and augmented radiuses: 24:0/22:0 y 26:0/22:0. We present a prototypic case of Zellweger’s syndrome in a suckling baby from the female sex and being three-month old, with typical facial dimorphism, dolichocephalism, prominent forehead and supraorbital margins, disorders in neuronal migration with polymicrogyria, neuronal band heterotopias, conditionings of polymorphic epileptic crisis and generalized hypotony added to interauricular communication of the ostium secundum type, hepatic disorder and fragmented bilateral patelar calcification. There is an increase of very long-chain fatty acids: C:26 y C 26:1. From the 12 different causal mutations in the PEX genes that codify peroxines, proteins required for the peroxisomal coupling, PEX1, which was the most commonly observed disorder, involves the 68% of the affected individuals. At present, there is an available sequential genomic analysis for PEX1, PXMP3(PEX2), PRXR1(PEX5), PEX6, PEX10, PEX12 y PEX26.


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