Yamada Hiroshi, Izumi Tatsuro
Department of Pediatrics and Child Neurology, Oita University, 1-1 Idaigaoka; Hasama, Yufu, Oita 879-5593, Japan.
Pediatr Neurol. 2009 Sep;41(3):211-4. doi: 10.1016/j.pediatrneurol.2009.03.015.
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.
