Mild Phenotype in an Adult Male With X-linked Adrenoleukodystrophy - Case Report

Clin Case Rep. 2015 Dec 21;4(2):177-81. doi: 10.1002/ccr3.434. eCollection 2016 Feb.

Abstract

X-linked adrenoleukodystrophy may present with a deceptively mild phenotype, even in adult males. Tight collaboration between clinicians, geneticists, biochemists, and other specialists is increasingly required for clarification of diagnosis in cases with atypical presentation.

Keywords: Adrenomyeloneuropathy; Parkinson's disease; X‐linked adrenoleukodystrophy; leukodystrophy; myelopathy; phenotype.

Publication types

  • Case Reports