Manifestation of neurofibromatosis 1 in a patient with X-linked adrenoleukodystrophy.
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.
Yamada
Hiroshi
H
Department of Pediatrics and Child Neurology, Oita University, 1-1 Idaigaoka; Hasama, Yufu, Oita 879-5593, Japan. hyamada@med.oita-u.ac.jp
Izumi
Tatsuro
T
D000326:Adrenoleukodystrophy / Q000097:blood / Q000175:diagnosis* / Q000473:pathology*; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D003937:Diagnosis, Differential; D016057:Evoked Potentials, Auditory, Brain Stem; D005227:Fatty Acids / Q000097:blood; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009035:Mothers; D009456:Neurofibromatosis 1 / Q000097:blood / Q000175:diagnosis* / Q000473:pathology*; D010641:Phenotype; D035781:Siblings; D012880:Skin Pigmentation
D005227:Fatty Acids