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Neonatal adrenoleukodystrophy with long‐term survival
Author(s) -
Auluck Pavan Kumar,
Barnett Sarah M.,
Eichler Florian S.,
HedleyWhyte E. Tessa
Publication year - 2007
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.21.5.a401-c
Subject(s) - hypotonia , adrenoleukodystrophy , atrophy , biology , pathology , medicine , peroxisome , receptor
Neonatal adrenoleukodystrophy (NALD) is a peroxisomal biogenesis disorder in the Zellweger Spectrum with onset from birth to 6 months and death at 15 +/− 31 months. The NALD phenotype includes hypotonia, developmental retardation, seizures, hepatic fibrosis, and adrenocortical atrophy. The hallmark neuropathologic feature of NALD is white‐matter destruction, predominantly in the occipital lobes with sparing of the arcuate fibers and with varying degrees of chronic inflammation. This 6‐year‐old boy diagnosed with NALD at 5 months and died 76 months later. He had the PEX1 gene mutation, which is the most frequent genetic defect in NALD. Autopsy revealed an intact cortex without neuronal migration defects and extensive white matter disease, both destructive and demyelinating, with focal mild chronic inflammation. The lymphocytes were predominantly CD8‐positive T‐cells. This case may help to clarify the relationship between genotype and neuropathologic phenotype in NALD.