title: [A case of simple form of sudanophilic leukodystrophy of a child which showed a marked loss of cerebral white matter and fatty liver].
abstract: A sporadic case of sudanophilic leukodystrophy of the simple form (Peiffer) was reported. The patient was three-year-old girl who had suffered from progressive developmental retardation and neurological disorders such as ataxia, cortical blindness and spastic paralysis of the extremities for eighteen months after she had showed normal development till one and a half years old and died from respiratory insufficiency. On admission, computerized tomogram scan demonstrated diffuse low density lesions of the cerebral white matter extending subsequently to the subcortical white matter. Examination of cerebrospinal fluid revealed only slight increase of protein. Lysosomal enzyme activities such as arylsulfatase and beta-galactosidase in the white blood cells were normal except for distinctly low activity of a-mannosidase without any clinical symptoms suggesting a-mannosidase deficiency. Amino acids in blood were normal. The brain weighed 900 gm. On the coronal sections most part of the cerebral white matter was so strongly degenerated and disappeared that the lateral ventricular structure was not discernible. Histologically, a diffuse and symmetrical demylination, loss of axons including U fibers and moderate gliosis were observed in the residual white matter in the cerebrum and pons. There was no inflammatory cells and metachromatic substances. Large amount of sudanophilic droplets showing polarizing cross and needle like crystals were found in the intra- and/or extracytoplasm of macrophages. Demyelinated lesions with little tissue reaction were also found in the cerebellum, medulla oblongata and in pyramidal tracts through midbrain to cervical spinal cord. There were slight loss of neurons and moderate astrocytosis in the cerebral cortex and basal ganglia. There were no Rosenthal fibers and no sparing of islets of myelin.(ABSTRACT TRUNCATED AT 250 WORDS)
mesh_terms: D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000150:complications / Q000473:pathology*; D005234:Fatty Liver / Q000150:complications* / Q000473:pathology; D006801:Humans; D006867:Hydrolases / Q000378:metabolism; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D008361:Mannosidases / Q000378:metabolism; D008526:Medulla Oblongata / Q000473:pathology; D008636:Mesencephalon / Q000473:pathology; D043323:alpha-Mannosidase
chemical_list: D006867:Hydrolases; D008361:Mannosidases; D043323:alpha-Mannosidase