Tohoku J. Exp. Med., 2006, 209(2)

Case Report

Effective Treatment with Levodopa and Carbidopa for Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

KEISUKE WAKUSAWA, KAZUHIRO HAGINOYA, TARO KITAMURA, NORIKO TOGASHI, MAMIKO ISHITOBI, HIROYUKI YOKOYAMA, SHUICHI HIGANO,¹ AKIRA ONUMA,² TAKAHIRO NARA³ and KAZUIE IINUMA

Department of Pediatrics, ¹Department of Diagnostic Radiology, Tohoku University School of Medicine, Sendai, Japan, ²Department of Pediatrics, Takutou Rehabilitation Center for Disabled Children, Sendai, Japan, and ³Department of Rehabilitation, Miyagi Children's Hospital, Sendai, Japan

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare leukoencephalopathy presenting in the infantile period and characterized by diffuse cerebral hypomyelination, and atrophy of the basal ganglia and cerebellum. As patients with H-ABC lack remarkable laboratory findings, the diagnosis is based on brain magnetic resonance imaging findings alone. Only eight cases have been reported in the literature, and thus the natural course and treatment of this disease are not fully understood. We report a 35-month-old boy with H-ABC who had hemidystonia, hypomyelination, and cerebellar ataxia. We diagnosed H-ABC after considering a thorough differential diagnosis, excluding other diseases involving hemidystonia, hypomyelination, and cerebellar ataxia. Furthermore, technetium-99m ethyl cysteinate dimmer-single-photon emission computerized tomography (Tc-ECD-SPECT) and positron emission tomography with fluorodeoxyglucose ¹⁸F (FDG-PET) revealed decreased blood flow and glucose metabolism in the bilateral lenticular nucleus, thalamus, and cerebellum. A peroral levodopa preparation containing carbidopa (levodopa-carbidopa) was effective at ameliorating and stopping the progression of the patient's dystonia (final effective doses: levodopa, 200 mg/day and carbidopa, 20 mg/day). This is the first case report of a Japanese patient with H-ABC and treatment for this disease. Levodopa-carbidopa may be an effective treatment for H-ABC.

keywords —— H-ABC; levodopa-carbidopa; hemidystonia; hypomyelination; cerebellar ataxia

© 2006 Tohoku University Medical Press

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Tohoku J. Exp. Med., 2006, 209, 163-167

Correspondence: Keisuke Wakusawa, Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryomachi, Aoba-ku, Sendai 980-8574, Japan.

e-mail: k-wakusawa@nifty.com