Effective treatment with levodopa and carbidopa for hypomyelination with atrophy of the basal ganglia and cerebellum.
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.
Wakusawa
Keisuke
K
Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryomachi, Sendai 980-8574, Japan. k-wakusawa@nifty.com
Haginoya
Kazuhiro
K
Kitamura
Taro
T
Togashi
Noriko
N
Ishitobi
Mamiko
M
Yokoyama
Hiroyuki
H
Higano
Shuichi
S
Onuma
Akira
A
Nara
Takahiro
T
Iinuma
Kazuie
K
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
D000978:Antiparkinson Agents; D019788:Fluorodeoxyglucose F18; D007980:Levodopa; D002230:Carbidopa