[A case of simple form of XXXX of a @entity1 which showed a marked loss of cerebral white matter and fatty liver].

@entity1 @entity38128 @entity851 @entity1522 @entity17 @entity16 @entity1194 @entity5219 @entity8431 @entity1576 @entity12661 @entity912 @entity2055
A sporadic case of @entity8431 of the simple form (Peiffer) was reported. The @entity1 was three-year-old @entity1 who had suffered from progressive @entity851 and @entity16 such as @entity2055 , @entity12661 and @entity912 of the extremities for eighteen months after she had showed normal development till one and a half years old and died from @entity1576 . 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 @entity1194 in the white blood cells were normal except for distinctly low activity of a-mannosidase without any clinical symptoms suggesting @entity38128 . @entity1522 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 @entity5219 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. @entity17 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 @entity5219 in the cerebral cortex and basal ganglia. There were no Rosenthal fibers and no sparing of islets of myelin.(ABSTRACT TRUNCATED AT 250 WORDS)
