Yamada H, Izumi T
Manifestation of neurofibromatosis 1 in a patient with X-linked adrenoleukodystrophy. [Journal Article]
Pediatr Neurol 2009 Sep; 41(3):211-4.
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.
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