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Neonatal adrenoleukodystrophy. Apropos of 3 cases in siblings

Neonatal adrenoleukodystrophy. Apropos of 3 cases in siblings

Annales de Pediatrie 36(4): 233-236

Neonatal adrenoleukodystrophy is a recently individualized disease manifested by very early onset of neurologic deterioration. Progression of the disease is rapid and there is no effective therapy. Differences with X-linked adrenoleukodystrophy include genetic inheritance, which is autosomal recessive, a more severe prognosis, and presence of multiple peroxisome enzyme deficiencies that justify classification alongside the Zellweger syndrome among the peroxisome disorders. We report three cases in siblings and describe the main clinical and biochemical features.

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Accession: 040780331

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PMID: 2662877

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