-transparent.png){kind=logo}
Eight new cases of autopsy-confirmed or suspected neonatal adrenoleukodystrophy (NALD) are presented together with new biochemical data on very-long-chain fatty acids (VLCFA) and plasmalogens and a review of all previously published cases. The clinical, biochemical, and histopathologic abnormalities characteristic of this newly recognized form of adrenoleukodystrophy are analyzed in detail and compared to the principal characteristics of the similar disorder, the cerebrohepatorenal syndrome of Zellweger (ZS). Using strict pathologic criteria for the diagnosis of NALD, we find that, despite many clinical resemblances, NALD and the ZS are distinguishable on the basis of histology and peroxisomal biochemistry. Patients with NALD demonstrate adrenal atrophy, systemic infiltration by abnormal lipid-laden macrophages, and elevations of saturated VLCFA. In contrast, patients with ZS have chondrodysplasia, glomerulocystic disease of the kidney, central nervous system dysmyelination, and elevations of unsaturated as well as saturated VLCFA, but they lack adrenal atrophy. We conclude that NALD and the ZS probably represent at least two different genetic defects.
R I Kelley, and
N S Datta, and
W B Dobyns, and
A K Hajra, and
A B Moser, and
M J Noetzel, and
E H Zackai, and
H W Moser
March 1992,
No to hattatsu = Brain and development,
R I Kelley, and
N S Datta, and
W B Dobyns, and
A K Hajra, and
A B Moser, and
M J Noetzel, and
E H Zackai, and
H W Moser
December 1986,
The American journal of pathology,
R I Kelley, and
N S Datta, and
W B Dobyns, and
A K Hajra, and
A B Moser, and
M J Noetzel, and
E H Zackai, and
H W Moser
September 1987,
European journal of pediatrics,
R I Kelley, and
N S Datta, and
W B Dobyns, and
A K Hajra, and
A B Moser, and
M J Noetzel, and
E H Zackai, and
H W Moser
January 2022,
Annals of Indian Academy of Neurology,
R I Kelley, and
N S Datta, and
W B Dobyns, and
A K Hajra, and
A B Moser, and
M J Noetzel, and
E H Zackai, and
H W Moser
January 1990,
Progress in clinical and biological research,
R I Kelley, and
N S Datta, and
W B Dobyns, and
A K Hajra, and
A B Moser, and
M J Noetzel, and
E H Zackai, and
H W Moser
March 1987,
Proceedings of the National Academy of Sciences of the United States of America,
R I Kelley, and
N S Datta, and
W B Dobyns, and
A K Hajra, and
A B Moser, and
M J Noetzel, and
E H Zackai, and
H W Moser
July 1988,
Neurology,
R I Kelley, and
N S Datta, and
W B Dobyns, and
A K Hajra, and
A B Moser, and
M J Noetzel, and
E H Zackai, and
H W Moser
June 1991,
Biochimica et biophysica acta,
R I Kelley, and
N S Datta, and
W B Dobyns, and
A K Hajra, and
A B Moser, and
M J Noetzel, and
E H Zackai, and
H W Moser
January 1986,
Pediatric research,
R I Kelley, and
N S Datta, and
W B Dobyns, and
A K Hajra, and
A B Moser, and
M J Noetzel, and
E H Zackai, and
H W Moser
January 1985,
Pediatric pathology,
