Abstract
An autopsy case of 11-year-old girl with Hallervorden-Spatz disease was reported
Her family history was noncontributory. Following a normal gestation and birth, her development had been normal until the age of 4. when unsteady gait, athetoid movements of upper extremities and night blindness were noticed. These symptoms slowly progressed. Physical examination, at 9 years of age, revealed retinal degeneration, mild dysarthria, hypertonus of neck muscle, athetoid movements and incoordination of extremities. Mental deterioration was not observed. Laboratory investigations showed nothing significant. Dystonia and opisthotonus developed at 10 years of age. She suffered from frequent attacks characterized by opisthotonus and extension of extremities, which were easily evoked by a small stimulus. Although right stereotaxic thalamotomy was done at 11 years of age, she died of status epilepticus 4 days after the operation.
The brain weighted 1, 320g. and there were bilateral rust-brownish discoloration of the globus pallidus and the substantia nigra. On microscopic examination, a number of brown pigment granules were found intracellularly and freely in the parenchyma of the pallidum, and a few pigment granules were found only in some nerve cells of the substantia nigra. The pigment gave a positive iron reaction. Spheroids were distributed numerously in the pallidum, and were rare in the substantia nigra, the putamen, the thalamus and the medulla oblongata. Diffuse gliosis was found in the pallidum where the neuronal loss was marked. There was degeneration or loss of Purkinje cells accompanied by torpedoes in the cerebellum. There was degeneration of nerve cells also in the olive and dentate nuclei.
