Journal of medical genetics · 1992
Spastic disorder in patients with hereditary multiple exostoses, but without spinal cord compression: a new syndrome?
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Hamann G, Zankl M, Schimrigk K, Kloss R
Аннотация
We describe a 37 year old man with a history of a gait disorder which had been worsening over a period of three years. Clinical examination showed the typical signs of a spastic tetraparesis with increased tone of all the extremities. Sensation, autonomic and cerebellar functions were not disturbed. Multiple exostoses had been present since early childhood, but none had been found in the spine or the cranium to cause the tetraspastic disorder. MRI scan was normal. Pedigree analysis of four generations showed that other family members were affected by both disorders. Chromosomal analysis was normal. We consider this to be a previously unknown hereditary syndrome transmitted as an autosomal dominant and manifesting a combination of spastic tetraparesis and multiple exostoses.