Pigmentary degeneration of the retina in the Hallervorden-Spatz syndrome.
Dizygotic twins developed a progressive neurologic disorder at age 6 months. When examined at age 7 1/2 years each had spastic quadriparesis and dystonia. Neither had ever spoken a complete sentence. The fundi showed bone spicule formation, a conspicuous choroidal circulation, and a striking accumulation of yellowish-white globular masses of varying sizes and shapes. Because our patients developed both the pigmentary degeneration and clinical signs of Hallervorden-Spatz syndrome at a much younger age than patients without retinopathy, we believe this case demonstrated a distinct nosologic entity.
D001480:Basal Ganglia Diseases / Q000235:genetics*; D002648:Child; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D008297:Male; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics*; D010857:Pigment Epithelium of Eye; D011247:Pregnancy; D012162:Retinal Degeneration / Q000235:genetics*; D014429:Twins, Dizygotic