Adrenoleukodystrophy Presenting as Secondary Erythrocytosis

J Korean Neurol Assoc > Volume 24(3); 2006 > Article

Journal of the Korean Neurological Association 2006;24(3): 282-285.

이차성 적혈구증다증으로 발현된 부신백질이양증

홍지만, 김상일a

아주대학교 의과대학 신경과학교실, 국군수도병원 혈액종양내과a

Adrenoleukodystrophy Presenting as Secondary Erythrocytosis

Ji Man Hong

Department of Neurology, Ajou University School of Medicine, Suwon; Department of Hematologya, Armed Forces Capital Hospital, Seongnam, Korea

Abstract

A 22-year-old man, who had complained of dizziness and morning headaches, was admitted because of persistent polycythemia with elevated erythropoietin. Subsequently during the work-up, he had frequent sleep apneas without respiratory efforts and a brain MRI revealed multiple bilateral leukoencephalopathies without enhancement. Adrenoleukodystrophy was diagnosed by clinical manifestations including adrenal insufficiency, brain imaging, and an elevated very long chain fatty acids (VLCFA) level. We report a case of adolescent cerebral type of adrenoleukodystrophy presenting with central sleep apnea and secondary erythrocytosis.KeyWords:Sleep apnea, Adrenoleukodystrophy, Very long chain fatty acids