Neonatal Adrenoleukodystrophy

Overview

Journal J Neurol Neurosurg Psychiatry

Publisher BMJ Publishing Group

Specialties Neurology
Neurosurgery
Psychiatry

Date 1986 Jan 1

PMID 2420940

Citations 16

Authors

P Aubourg

J Scotto

F Rocchiccioli

O Robain

Affiliations

Soon will be listed here.

Abstract

Nine cases of neonatal adrenoleukodystrophy are described. All patients had abnormal facial features, moderate to severe hypotonia, hepatomegaly, and retinitis pigmentosa. The clinical course was rapidly progressive in six cases and more protracted in three others. Biological signs of adrenal insufficiency were present in five cases. CT scan showed a demyelinating process in four patients. Trilamellar inclusions were found in the liver of four cases and dark and complex lipidic inclusions in three other cases. In the three necropsied patients there was severe alteration of the white matter involving particularly the cerebellum in two cases. Gyral and cytoarchitectonic disturbances were absent in all three cases. Increased plasma levels of very long chain fatty acids (8/8), phytanic acid (7/8) and bile fluid trihydroxycoprostanic acid (2/4) confirmed the deficiency of multiple peroxisomal enzymes. Clinical, histopathological and biochemical findings of these nine cases are compared to those reported in other neonatal adrenoleukodystrophy cases and to those of other neonatal peroxisomal disorders, that is cerebro-hepato-renal syndrome of Zellweger and infantile Refsum's disease.

Citing Articles

Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review.

Bose M, Yergeau C, DSouza Y, Cuthbertson D, Lopez M, Smolen A Cells. 2022; 11(12).

PMID: 35741019 PMC: 9221082. DOI: 10.3390/cells11121891.

Peroxisomal Dysfunction in Neurological Diseases and Brain Aging.

Uzor N, McCullough L, Tsvetkov A Front Cell Neurosci. 2020; 14:44.

PMID: 32210766 PMC: 7075811. DOI: 10.3389/fncel.2020.00044.

Peroxisome biogenesis deficiency attenuates the BDNF-TrkB pathway-mediated development of the cerebellum.

Abe Y, Honsho M, Itoh R, Kawaguchi R, Fujitani M, Fujiwara K Life Sci Alliance. 2018; 1(6):e201800062.

PMID: 30519675 PMC: 6277683. DOI: 10.26508/lsa.201800062.

Peroxisome biogenesis disorders.

Argyriou C, DAgostino M, Braverman N Transl Sci Rare Dis. 2017; 1(2):111-144.

PMID: 29152457 PMC: 5678237. DOI: 10.3233/TRD-160003.

Peroxisomes in brain development and function.

Berger J, Dorninger F, Forss-Petter S, Kunze M Biochim Biophys Acta. 2015; 1863(5):934-55.

PMID: 26686055 PMC: 4880039. DOI: 10.1016/j.bbamcr.2015.12.005.

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