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Differential outcomes for frontal versus posterior demyelination in childhood cerebral adrenoleukodystrophy
Author(s) -
Gupta Ashish O.,
Nascene David R.,
Shanley Ryan,
KenneyJung Daniel L.,
Eisengart Julie B.,
Lund Troy C.,
Orchard Paul J.,
Pierpont Elizabeth I.
Publication year - 2021
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1002/jimd.12435
Subject(s) - medicine , neurocognitive , adrenoleukodystrophy , cohort , pediatrics , white matter , frontal lobe , psychiatry , magnetic resonance imaging , radiology , cognition , peroxisome , receptor
In the most common variant of childhood cerebral adrenoleukodystrophy (cALD), demyelinating brain lesions are distributed predominately in parieto‐occipital white matter. Less frequently, lesions first develop in frontal white matter. This matched cohort study examined whether outcomes after standard treatment with hematopoietic cell transplantation (HCT) differ in patients with early stage frontal lesions as compared to parieto‐occipital lesions. Retrospective chart review identified seven pediatric patients with frontal cALD lesions and MRI severity score < 10 who underwent a single HCT at our center between 1990 and 2019. Concurrent MRI, neurocognitive and psychiatric outcomes at last comprehensive follow‐up (mean 1.2 years; range 0.5‐2.1 years) were compared with a group of seven boys with the parieto‐occipital variant matched on pre‐HCT MRI severity score. Both groups showed similar rates of transplant complications and radiographic disease advancement. Neurocognitive outcomes were broadly similar, with more frequent working memory deficits among individuals with frontal lesions. Psychiatric problems (hyperactivity, aggression, and atypical behavior) were considerably more common and severe among patients with frontal lesions. Aligned with the critical role of the frontal lobes in emotional and behavioral regulation, functional disruption of self‐regulation skills is widely observed among patients with frontal lesions. Comprehensive care for cALD should address needs for psychiatric care and management.