Rosenfeld et al I19841 published a report on a child with manifestations of the cat-eye syndrome, in whom they concluded the marker chromosome was probably not chromosome 22. However, the authors make no reference to the study of Toomey et a1 [ 19771, in which the authors conclude the marker chromos
Cat eye syndrome and dystonia
β Scribed by Carmelo Nicolosi; Paolo Girlanda; Giuseppe Vita; Corrado Messina
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 253 KB
- Volume
- 11
- Category
- Article
- ISSN
- 0885-3185
No coin nor oath required. For personal study only.
β¦ Synopsis
plantar responses flexor, and there were no abnormalities of sensation; there was no evidence of reflex sympathetic dystrophy. A full blood count was normal as was his serum CPK level, and EMG studies did not reveal any denervation of the shoulder girdle muscles. Magnetic resonance imaging of the brain and spinal cord were normal. He was treated with botulinus toxin injection into both splenii muscles with benefit.
The mechanism of dystonia following electrical injuries remains unclear, but Fletcher et al. (3) postulated that trauma may trigger dystonia in genetically predisposed individuals. It has been suggested that the presence of severe pain, fixed postures with limitation of segmental movement, the presence of reflex sympathetic dystrophy and associated depression are more frequently seen in posttraumatic dystonia than in idiopathic torsion dystonia (4), and some of these features were present in our case.
π SIMILAR VOLUMES
## Abstract We describe a child with downslanting palpebral fissures, preauricular malfunctions, congenital heart defect (total anomalous pulmonary venous return), unilateral absence of a kidney, and developmental delay with an apparent interstitial duplication of proximal 22q. Fluorescent in situ