Neonatal adrenoleukodystrophy
L’adrénoleucodystrophie néonatale (NALD) est une maladie neurodégénérative rare qui appartient au groupe des maladies peroxysomales héréditaires. Elle touche entre 1/50 000 et 1/100 000 nouveau-nés, affecte aussi bien les garçons que les filles, et débute à la naissance ou dans la petite enfance.
Neonatal adrenoleukodystrophy (or NALD) is a neurodegenerative disease belonging to the group of peroxisomal disorders. It is a variant of the Zellweger syndrome.
Despite its name, this disease is distinct from X-linked adrenoleukodystrophy.
Description
It is characterized by seizures at birth, a diffuse encephalopathy, impaired vision and hearing, peripheral neuropathy, facial dimorphism, growth impairment and a severely delayed psychomotor development. The neurological regression is progressive. Moderate to severe hypotonia and liver hypertrophy are also described.
In most cases, a severe adrenal insufficiency occurs: the adrenal glands are severely atrophied and plasma ACTH levels were markedly elevated.
The majority of children die in infancy.