Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report

Morten A Horn; Karin B M Mikaelsen; Sacha Ferdinandusse; Ellen Jørum; Svein I Mellgren; Lars Retterstøl; Ronald J A Wanders; Chantal M E Tallaksen

doi:10.1002/ccr3.434

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.

Authors

Morten A Horn¹, Karin B M Mikaelsen², Sacha Ferdinandusse³, Ellen Jørum¹, Svein I Mellgren⁴, Lars Retterstøl⁵, Ronald J A Wanders³, Chantal M E Tallaksen¹

Affiliations

¹ Department of Neurology Oslo University Hospital PO Box 4956 Nydalen Oslo N-0424 Norway; Department of Neurology Faculty of Medicine University of Oslo PO Box 1078 Blindern Oslo N-0316 Norway.
² Department of Neurology Molde Hospital HF Parkveien 84 Molde N-6407 Norway.
³ Laboratory Genetic Metabolic Diseases Department of Clinical Chemistry Academic Medical Centre Meibergdreef 9 Amsterdam 1105 AZ The Netherlands.
⁴ Department of Neurology University Hospital of Northern Norway Tromsø N-9038 Norway; Department of Clinical Medicine UiT the Arctic University of Norway PO Box 6050 Langnes N-9037 Tromsø Norway.
⁵ Department of Medical Genetics Oslo University Hospital N-0424 Oslo Norway.

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