Heredofamilial syndrome of spastic paraplegia, dysarthria and cutaneous lesions in ive siblings.
Five children, three sisters and two brothers aged between three months and 12 years, are described. They all developed a facial desquamating rash of butterfly distribution at the age of about two months, and motor retardation which later was characterized by spasticity, predominantly affecting the lower limbs. The three children who were old enough for speech to be tested had dysarthria. There was no family history of neurological disease, nor was there consanguinity among the parents or grandparents. EEGs were diffusely abnormal in four of the five children, but did not show any specific or diagnostic features. Plasma immunoglobulin tests were normal, and tests for collagen disease were negative. The authors are not aware of previous reports of this condition, but believe that it is a variant of familial spastic paraplegia, with atypical features.
D002648:Child; D002675:Child, Preschool; D003872:Dermatitis / Q000235:genetics*; D004401:Dysarthria / Q000235:genetics; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics; D010264:Paraplegia / Q000235:genetics*; D010375:Pedigree; D012021:Reflex, Abnormal / Q000235:genetics; D013577:Syndrome