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Washington University Experience | NEURODEGENERATION | NBIA1 (PKAN, Hallervorden-Spatz Dz) | 8A0 Case 8 History
Case 8 History ---- This patient died in February 1979 at a chronic care facility. Her clinical diagnosis was Hallervorden-Spatz disease. The patient is one of three daughters affected with a progressive neurological disorder characterized by dystonia, pes equinovarus, mental retardation and retinitis pigmentosa. The sibship totaled seven (two boys, five girls); the two males and two of the females were unaffected. There is no family history of any similar disorder in either paternal or maternal family; however there is a history of paternal-maternal sib marriage with normal offspring. The patient was a 6 lb. 0 oz, product of a 38 wk uneventful gestation. She had no problems noted in the neonatal period and a careful examination by a pediatrician at 8 months of age with special attention to the nervous system revealed no abnormalities. However she did not begin walking until she was 16 months of age, and at the outset she had a characteristic toe gait with frequent falling "as if she had tripped over a string' This had also been seen in her two sisters. Likewise, her speech development was markedly delayed. She first babbled at two years of age but did not begin to say any words other than ''mamma'' until she was 7 years of age, and then limited to three word sentences. Other than walking, her early motor development was more normal. However, at 16 months of age she developed “jerky” movements which gradually increased in severity. From ages 8 to 9 3/4 her mother noted a definite progression in her extra pyramidal dysfunction and falls were frequent. Neither she nor her two affected sibs had ever had a clear cut seizure. Both her height and weight were less than the third percentile. Fundoscopic examination showed retinitis pigmentosa. There was right esotropia and a degree of limitation of upward gaze bilaterally and jerking nystagmus. Bilateral Achilles tendon shortening was noted with pes equinovarus deformity. Myotatic reflexes were hyperactive bilaterally. Laboratory results included acanthocytosis in 5-10% of RBC's on wet prep. The clinical impression was Hallervorden-Spatz disease with acanthocytosis. L-Dopa provided no clear improvement in motor function. Her mother indicated a slowly but progressive downhill course until the time of her death at the age of 17. ---- At autopsy, brain weight was 1070g. The anterior half of the right frontal lobe and a section through the midbrain were frozen for biochemical analysis. The cerebral hemispheres are symmetrical and have a normal gyral architecture.
