title: Effective treatment with levodopa and carbidopa for hypomyelination with atrophy of the basal ganglia and cerebellum.
abstract: 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 (18)F (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.
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryomachi, Sendai 980-8574, Japan. k-wakusawa@nifty.com
authors.forename: Keisuke
authors.initials: K
authors.lastname: Wakusawa
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Haginoya
authors.forename: Taro
authors.initials: T
authors.lastname: Kitamura
authors.forename: Noriko
authors.initials: N
authors.lastname: Togashi
authors.forename: Mamiko
authors.initials: M
authors.lastname: Ishitobi
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Yokoyama
authors.forename: Shuichi
authors.initials: S
authors.lastname: Higano
authors.forename: Akira
authors.initials: A
authors.lastname: Onuma
authors.forename: Takahiro
authors.initials: T
authors.lastname: Nara
authors.forename: Kazuie
authors.initials: K
authors.lastname: Iinuma
mesh_terms: D000284:Administration, Oral; D000978:Antiparkinson Agents / Q000627:therapeutic use*; D001284:Atrophy / Q000188:drug therapy / Q000473:pathology; D001479:Basal Ganglia / Q000473:pathology*; D002230:Carbidopa / Q000627:therapeutic use*; D002531:Cerebellum / Q000473:pathology*; D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000188:drug therapy* / Q000473:pathology; D003937:Diagnosis, Differential; D004359:Drug Therapy, Combination; D004421:Dystonia / Q000175:diagnosis; D019788:Fluorodeoxyglucose F18; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008279:Magnetic Resonance Imaging; D008297:Male; D049268:Positron-Emission Tomography; D013132:Spinocerebellar Degenerations / Q000175:diagnosis; D016896:Treatment Outcome
chemical_list: D000978:Antiparkinson Agents; D019788:Fluorodeoxyglucose F18; D007980:Levodopa; D002230:Carbidopa