Manifestation of neurofibromatosis 1 in a patient with X-linked adrenoleukodystrophy

Hiroshi Yamada; Tatsuro Izumi

doi:10.1016/j.pediatrneurol.2009.03.015

Manifestation of neurofibromatosis 1 in a patient with X-linked adrenoleukodystrophy

Pediatr Neurol. 2009 Sep;41(3):211-4. doi: 10.1016/j.pediatrneurol.2009.03.015.

Authors

Hiroshi Yamada¹, Tatsuro Izumi

Affiliation

¹ Department of Pediatrics and Child Neurology, Oita University, 1-1 Idaigaoka; Hasama, Yufu, Oita 879-5593, Japan. hyamada@med.oita-u.ac.jp

PMID: 19664540
DOI: 10.1016/j.pediatrneurol.2009.03.015

Abstract

A patient with X-linked adrenoleukodystrophy exhibited a phenotype of neurofibromatosis 1. He had large and multiple café-au-lait spots, and had elevated serum levels of very long chain fatty acids. The patient's mother and elder sister also had X-linked adrenoleukodystrophy. This case represents novel manifestations of neurofibromatosis 1 in a patient with X-linked adrenoleukodystrophy.

Publication types

Case Reports

MeSH terms

Adrenoleukodystrophy / blood
Adrenoleukodystrophy / diagnosis*
Adrenoleukodystrophy / pathology*
Brain / pathology
Brain / physiopathology
Diagnosis, Differential
Evoked Potentials, Auditory, Brain Stem
Fatty Acids / blood
Female
Humans
Magnetic Resonance Imaging
Male
Mothers
Neurofibromatosis 1 / blood
Neurofibromatosis 1 / diagnosis*
Neurofibromatosis 1 / pathology*
Phenotype
Siblings
Skin Pigmentation

Substances

Fatty Acids