Familial dysequilibrium-diplegia with T-lymphocyte deficiency.
A second family is described with a combination of defective thymus-dependent immunity and cerebral palsy. The cerebral palsy comprised nonprogressive dysequilibrium and mild spastic diplegia without limb ataxia. This genetic entity of presumed autosomal recessive inheritance is clearly distinguished from ataxia-telangiectasia. Immunological abnormalities should be sought in other familial or unexplained cerebral palsy syndromes.
D000373:Agglutinins / Q000032:analysis; D000914:Antibodies, Viral / Q000032:analysis; D002547:Cerebral Palsy / Q000150:complications / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D007136:Immunoglobulins / Q000032:analysis; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D007958:Leukocyte Count; D008198:Lymph Nodes / Q000473:pathology; D008213:Lymphocyte Activation; D008297:Male; D009069:Movement Disorders / Q000209:etiology; D009460:Neurologic Examination; D004856:Postural Balance; D013601:T-Lymphocytes / Q000276:immunology*
D000373:Agglutinins; D000914:Antibodies, Viral; D007136:Immunoglobulins