Spastic Paraplegia And Evans Syndrome

Spastic paraplegia is a progressive degenerative disorder of the central nervous system that results in spasticity affecting primarily the lower limbs without demonstrable cause except an underlying mutation demonstrated or presumed. Heterogeneity is indicated both by mode of inheritance and by clinical distinctions. Evans syndrome is the simultaneous or sequential occurrence of Coombs-positive hemolytic anemia and immune thrombocytopenia without a known underlying etiology (Evans and Duane, 1949). It is a chronic immunologic disorder with a variable clinical course. Ahmed et al. (1996) described 2 Saudi brothers aged 13 and 9 years, the offspring of first-cousin parents, who walked on their toes from an early age and were initially diagnosed as congenital spastic diplegia. Evidence of the Evans syndrome began at age 5 in the older brother and age 2.5 in the younger brother. Rapid deterioration of functional motor ability followed the development of Evans syndrome. It is noteworthy that in the family a sister had died at one year of age with intracranial hemorrhage; she was said to have had hemolytic anemia and thrombocytopenia. Further details of investigations could not be traced. Thus, 3 sibs with Evans syndrome among the offspring of a consanguineous marriage were observed, suggesting autosomal recessive inheritance. Although genetic predisposition in Evans syndrome has perhaps not been specifically noted, familial clustering of cases of autoimmune hemolytic anemia and autoimmune thrombocytopenia as individual entities is well known.