Seishin Igaku Volume 42, Issue 12 (December 2000)

A Case Clinically Diagnosed as Sudanophilic Leukodystrophy Presenting with Psychiatric Symptoms Naoyuki KASHIMA 1 , Ikurou NAMURA 2 , Junya SUGAWARA 3 , Jun HATAZAWA 4 , Masahisa SANNOMIYA 5 1Yokotekousei Hospital 2Akita University Health Administration Center 3Department of Psychiatry, Akita University School of Medicine 4Department of Radiology and Nuclear Medicine, Akita Research Institute of Brain and Blood Vessels 5Department of Psychiatry, Jikei University School of Medicine Keyword: Sudanophilic leukodystrophy , SPECT , Frontal lobe syndrome , Downbeat nystagmus , Crossed cerebellar diaschisis pp.1253-1261
Published Date 2000/12/15
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 Sudanophilic leukodystrophy (SLD) is a rare type of leukodystrophy with no specific biochemical or genetical abnormality detected so far. SLD is not diagnosed until other types of leukodystrophies and demyelinating diseases due to other causes are excluded. We reported a 36-year-old male, clinically diagnosed as sudanophilic leukodystrophy. He slowly developed character changes such as antisocial behaviour and robbery, memory and attention disturbance during the first year of the disease at 32 years of age. In the advanced stage, his condition deteriorated to dementia. On admission at 35 years old, his grade on the HDS (Hasegawa dementia scale) was 11/ 30. Seven months later, tonic-clonic convulsion was observed. Then one year later, spastic hemiplegia gradually ocurred, which was thought to be related to damage in the pyramidal tract. Neurologically, downbeat nystagmus was characteristic.

 An electroencephalogram showed a moderate amount of 4-6 Hz random θ waves in the back-ground of irregular 10-11 Hz α activity. Nerve conduction velocities in the extremities were normal. Adrenocortical function was normal and plasma very long chain fatty acid content was almost normal. The activities of leukocytic lysosomal enzymes, such as arylsulfatase A, β-galactosidase, α-galactosidase, β-glucosidase, hexosaminidase A, α-mannosidase, α-fucosidase, galactosylceramidase were all within the normal ranges. Cerebrospinal fluid was normal.

 The characteristic white matter changes on MRI and the absence of any laboratory abnormality suggested the diagnosis of sudanophilic leukodystrophy. Since the early stage, MRI of his brain demonstrated diffuse symmetrical T 2-high and T1-low abnormalities in confluent areas of the white matter. SPECT disclosed diffuse cerebral and cerebellar hypoperfusion, in the advanced stage. The white matter abnormalities on MRI and the cerebellar hypoperfusion on SPECT might represent bilateral crossed cerebellar diaschisis. In Japan, this is the third case report of clinically diagnosed sudanophilic leukodystrophy studied by SPECT and the first case of leukodystrophy with crossed cerebellar diaschisis. Frontal lobe syndrome and typical frontal hypoperfusion were demonstrated in the all cases.

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42巻12号 (2000年12月)
電子版ISSN 1882-126X 印刷版ISSN 0488-1281 医学書院