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Figure 37-9 Idiopathic basal ganglionic and cerebellar calci cation discovered 5 years after the onset of a slowly progressive rigid Parkinson syndrome in a 54-year-old woman
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tients there was a unilateral choreoathetosis, which was replaced gradually by a parkinsonian syndrome, and in another of our sporadic cases, the initial abnormality was a unilateral dystonia, responsive to L-dopa Some patients have been mentally retarded, others intellectually intact We have observed a familial form of basal ganglionic cerebellar calci cation inherited as an autosomal recessive trait Its onset was in adolescence and early adult life, and it presented clinically as a complex syndrome of choreoathetosis, tremor, ataxia, and dementia The serum calcium levels in the aforementioned types of cases are usually normal, and there is no explanation of the calci cation This was also true of our cases In a family described by Martinelli and colleagues, there was autosomal dominant inheritance and abnormal vitamin D metabolism In hypoparathyroidism (idiopathic or acquired) and pseudohypoparathyroidism (a rare familial disease characterized by the symptoms and signs of hypoparathyroidism in association with distinctive skeletal and developmental abnormalities), the diminution in ionized serum calcium induces not only tetany and seizures but sometimes choreoathetosis as well This last symptom is presumably due to calci cation of the basal ganglia, which occurs in about one-half of the patients Also, in some instances there are signs of a cerebellar lesion Sly and colleagues have described the familial occurrence (21 cases in 12 families) of calci cation in the caudate and lenticular nuclei, thalami, and frontal lobe white matter in association with osteopetrosis ( marble bones ) and renal tubular acidosis Clinically there were multiple cranial nerve palsies including optic atrophy as well as psychomotor delay and learning disabilities but no extrapyramidal signs The cranial nerve palsies, which are due to bony encroachment in neural foramina, were much less severe than in the lethal form of osteopetrosis The pattern of inheritance of this disease is autosomal recessive, and the basic abnormality was found to be a de ciency in carbonic anhydrase II in red blood corpuscles and probably in kidney and brain
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Other Metabolic Disorders Associated with Choreoathetosis and Dystonia Exceptionally, ceroid-lipofuscinosis of the Kufs type, GM1 gangliosidosis, late-onset metachromatic leukodystrophy, Niemann-Pick disease (type C), Hallervorden-Spatz disease, and Wilson disease may present with a syndrome of which dystonia or athetosis is an important component Usually, there are other elements in the clinical picture as well, so that the correct diagnosis is seldom in doubt for long Dal Canto and colleagues have described a variant of neuronal ceroid-lipofuscinosis in which a boy and girl of unrelated non-Jewish parents developed severe choreoathetosis and dystonia at 6 to 7 years of age Intellectual deterioration, gait abnormality, and seizures were added clinical features Cerebral biopsy showed intraneuronal inclusions consisting of curvilinear bodies These observations support the notion of nosologic heterogeneity among the nonglycolipid neuronal storage disorders Glutaric acidemia (type I) is another rare metabolic disorder, in which progressive choreoathetosis and dystonia are combined with an intermittent acidemia In some cases, ataxia of movement and a variable degree of mental retardation are also present Glutaric acid is present in the urine, as are its metabolites 3-OH glutarate and glutamate The basic defect is in glutaryl CoA dehydrogenase, which has been found in leukocytes, hepatocytes, and broblasts Neuropathologically, there is loss of neurons in the caudate, putamen, and pallidum, with gliosis A spongy change is said to affect the white matter Infants with glutaric acidemia are often subject to sudden episodes of acidosis, coma, and accidity There are signal changes on MRI, corresponding to the acute necrosis of nerve cells in the basal ganglia These crises can be prevented and the infants can develop normally if the diagnosis is made before the development of neurologic signs, for example, in the sibling of an older affected child, and treatment is undertaken with a diet low in protein, particularly in tryptophan and lysine (Cho et al) It should be pointed out that acquired extrapyramidal disorders are much more common than inherited ones A prototype of athetosis is known to follow hypoxic encephalopathy of birth, leading to etat marbre; of the basal ganglia This is the basis of the double athetosis syndrome that usually becomes manifest only after the rst year of life and persists thereafter (page 878) The Rh and ABO blood incompatibilities that induce erythroblastosis fetalis and kernicterus are another cause of a bilateral athetosis at about the same period of life, but this syndrome is distinguished by intense and prolonged neonatal jaundice and the added features of deafness and paralysis of upward gaze (page 878) The same is true of the Crigler-Najjar form of hereditary hyperbilirubinemia, in which kernicterus (with ataxia or athetosis) may rarely appear as late as childhood or adolescence, the defect being one of glucuronide-bilirubin conjugation Later in life, the antiphospholipid antibody syndrome may induce chorea as a presenting feature (see page 735) Finally, a number of other rare diseases, which can only be classi ed as heredofamilial degenerations, must also gure in the differential diagnosis of choreoathetotic or dystonic syndromes and are covered in Chap 39 Torsion dystonia is the best-known example Another is the familial dystonia with certain features of Parkinson disease which is highly responsive to L-dopa (Segawa disease) The distinctive chorea-acanthocytosis syndrome is described on page 913 A nonprogressive familial choreoathetosis with onset in early childhood has been reported by Pincus and Chutorian; here, cerebellar signs were usually conjoined but the
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