## Abstract Movement disorders such as dystonia, chorea or tremor are rarely encountered in patients with homocystinuria. We present 2 siblings with laboratoryβconfirmed homocystinuria, one with severe generalized dystonia and the other with mild parkinsonism. The movement disorders in our patients
Two sisters with generalized dystonia associated with homocystinuria
β Scribed by Dr. A. Berardelli; P. D. Thompson; M. Zaccagnini; O. Giardini; P. D'Eufemia; R. Massoud; M. Manfredi
- Publisher
- John Wiley and Sons
- Year
- 1991
- Tongue
- English
- Weight
- 416 KB
- Volume
- 6
- Category
- Article
- ISSN
- 0885-3185
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β¦ Synopsis
Two sisters with progressive dystonic syndromes and homocystinuria are presented. The biochemical defect was not accompanied by the typical clinical features of homocystinuria. Magnetic resonance imaging (MRI) revealed bilateral lesions of the basal ganglia. Homocystinuria should be considered among the causes of symptomatic or secondary dystonias associated with basal ganglia lesions.
π SIMILAR VOLUMES
FIG. 1. MRI showed symmetric (A) hypointensity signal on T1weighted imaging and (B) hyperintensity signal on T2-weighted imaging in bilateral substantia nigra on admission. A repeated MRI after 3 months showed resolution of the lesions on (C) T2-weighted imaging and (D) T1-weighted imaging.
## Abstract Secondary dystonia is well known subsequent to lesions of the basal ganglia or the thalamus. There is evidence that brainstem lesions may also be associated with dystonia, but little is known about pathoanatomical correlations. Here, we report on a series of four patients with acquired
We report on 2 sisters with an autosomalrecessive multiple pterygium syndrome, type Escobar, consisting of multiple pterygia with severe contractures, short stature, and minor facial and external genital anomalies. The striking finding was severe muscular atrophy. We speculate that a neuromuscular d