| Abstrakt: |
A rare, and poorly understood syndrome of progressive cerebellar ataxia can be seen in pts. with Histiocytosis X. We report two patients who had bone involvement of the skull and orbit, and developed delayed onset (3 and 4 yrs from diagnosis) of progressive cerebellar ataxia, corticospinal tract abnormalities, and functional weakness. Pt. #1, diagnosed in 1969 at age 2, now wheelchair bound, has moderately severe cognitive deficits and a seizure disorder. Pt. #2, diagnosed in 1977 at age 4, now has progressive truncal ataxia and rt. hemiparesis. Brain CTs of both pts. show symmetric hypodense areas in the cerebellar hemispheres, including the dentate nuclei. The vermis, and cerebellar and perimesencephalic cisterns are normal. No pathologic calcifications, or supratentorial abnormalities are noted. Brain stem evoked potentials are abnormal in both.A cerebellar biopsy was performed on pt. #2 at age 11. Histologic findings included a marked ↓ in Purkinje and granule cells and gliosis of the white matter and granular and Purkinje layers. A marked loss of myelin and axons in the white matter, and ↓ ramifications within, and width of, the molecular layer are also noted. Rare large mononulear cells at the granular layer-white matter junction were observed. In our two patients with selective neurologic deterioration, clinical and histologic criteria fail to explain their symptoms as the direct consequent of their disease or its treatment. Early biopsy is essential to establish the pathologic basis of this syndrome prior to its treatment. |
