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Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In 1900 Klippel and Trenaunay defined a new entity characterized by cutaneous angioma associated with varices and hypertrophy of bone and soft tissues. The syndrome is present in the earliest years and becomes accentuated as the child grows. It typically affects one half of the body. We report two cases of Klippel-Trenaunay syndrome. The first patient presented with flaccid paraplegia. On T1-weighted MRI sequences a diffuse heterogeneous high-intensity signal was visible opposite the T8 and T9 vertebral bodies. Spinal cord angiography showed occlusion of the anterior spinal artery issued from Adamkiewicz's artery, suggesting thrombosis. Serum fibrinopeptide A level was very high and compatible with hypercoagulability. The second patient presented with left hemiplegia caused by a right superficial sylvian artery infarct, and carotid angiography showed an image of right internal carotid artery dissection. These two cases suggest that Klippel-Trenaunay syndrome includes a state of hypercoagulability facilitating the occurrence of arterial thrombotic accidents, and an abnormality of the arterial wall capable of determining spontaneous dissection. A study of arterial wall-dependent coagulation factors should establish a link between these two aetiological factors. All this argues in favor of a diffuse vascular pathology, which makes this syndrome close to phakomatoses.
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PMID:[Klippel-Trenaunay syndrome and ischemic neurologic complications]. 780 Oct 41

Mirror movements (MM) are involuntary movements of one side of the body that accompany and mirror intentional movements on the opposite side. Physiological MM can occur during normal childhood development, probably owing to corpus callosum immaturity. Pathological congenital MM may be clinically isolated or part of a complex congenital syndrome, including Kallmann syndrome, Klippel-Feil syndrome, and congenital hemiplegia. Congenital isolated MM are usually familial. Recently, heterozygous mutations of the DCC gene, with autosomal dominant inheritance, were shown to cause some cases of MM. The pathogenesis of congenital MM may involve (i) abnormal interhemispheric inhibition between the two motor cortices; (ii) functional alteration of motor planning and motor execution; and/or (iii) abnormal persistence of the ipsilateral corticospinal tract. Fundamental and clinical research is providing novel insights into the complex underlying molecular pathways, and recent experimental work has identified several mechanisms that may mediate the motor network dysfunction. In this review, we analyze clinical, genetic, neurophysiologic, and neuroimaging data on congenital MM, and discuss how this knowledge may improve our understanding of bimanual motor control.
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PMID:Congenital mirror movements: a clue to understanding bimanual motor control. 2163 4

"Mirror movements" are an axonal guidance disorder that consists of involuntary contralateral movements that mimic unilateral intentional ones, typically involving the fingers of the hand. They can be isolated or associated with conditions such as Klippel-Feil syndrome, Kallmann syndrome, or congenital hemiplegia. Isolated congenital mirror movements are sometimes caused by autosomal dominant mutation in the genes DCC or RAD51. At least 4 previously reported cases had strabismus, 3 with Moebius syndrome and 1 with Duane retraction syndrome. We report the case of a boy with an unusual incomitant strabismus consistent with orbital dysinnervation and suggest that for some patients with congenital mirror movements the neurological miswiring extends to the orbit, causing congenital cranial dysinnervation disorder.
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PMID:Congenital cranial dysinnervation disorder in a boy with congenital mirror movements. 2583 74