Disturbed adrenocortical function in cerebro-hepato-renal syndrome of Zellweger

Abstract

An ACTH stimulation test was performed in six patients suffering from the cerebro-hepato-renal syndrome of Zellweger. In contrast to controls, no rise in cortisol was observed. None of these patients showed clinical symptoms of adrenal insufficiency. The sudden death, which occurs in this syndrome, can probably be explained by an impaired stress reaction. In stress situations, such as respiratory infection, corticosteroids should be administered to these patients. A striking resemblance exists between the Zwellweger syndrome and the neonatal form of adrenoleukodystrophy.