A Case of Adrenoleukodystrophy Diagnosed Based on Visual Disturbance

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  • Haruishi Kazuko
    Department of Ophthalmology 1, Kawasaki Medical School Department of Orthoptics, Faculty of Rehabilitation, Kawasaki University of Medical Welfare
  • Miki Atsushi
    Department of Ophthalmology 1, Kawasaki Medical School Department of Orthoptics, Faculty of Rehabilitation, Kawasaki University of Medical Welfare
  • Araki Syunsuke
    Department of Ophthalmology 1, Kawasaki Medical School
  • Goto Katsutoshi
    Department of Ophthalmology 1, Kawasaki Medical School
  • Akaike Hiroto
    Department of Pediatrics, Kawasaki Medical School
  • Matsuda Junko
    Department of Pediatrics, Kawasaki Medical School Department of Pathophysiology and Metabolism, Kawasaki Medical School
  • Ouchi Kazunobu
    Department of Pediatrics, Kawasaki Medical School
  • Kiryu Junichi
    Department of Ophthalmology 1, Kawasaki Medical School

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Other Title
  • 視覚障害を契機に副腎白質ジストロフィーと診断された1例

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Abstract

<p>　We report a case of adrenoleukodystrophy (ALD) in a 10-year-old boy with visual disturbance. He presented with developmental disorders and a progressive intellectual disability. The patient was referred to our hospital by a neighboring ophthalmologist because of vision loss and gait disturbance for 3 weeks. At the first visit, his visual acuity was 0.08 in the right eye and 0.04 in the left eye. Both eyes showed abduction. Symmetric areas of high signal intensity in the white matter on head magnetic resonance imaging (MRI) with the T2-weighted or fluid-attenuated inversion recovery sequence, elevated blood very-long-chain fatty acid, and mutation in ABCD1 were found. He was diagnosed with childhood cerebral ALD. Although umbilical cord blood transplantation was successfully performed 4 months after the diagnosis, the patient died at 13 years of age. In this case, the diagnosis and treatment were delayed because the initial clinical symptoms were overlooked owing to a history of developmental disorders.</p> <p>　ALD should be considered in a boy patients with vision loss, gait disturbance, and progressive intellectual disability. MRI is useful for establishing the early diagnosis and therapy of ALD.</p>

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