Spastic paraparesis, mental retardation, and cutaneous pigmentation disorder. A new syndrome.
Four siblings in a family with a highly consanguineous background presented with an unusual combination of spastic paraparesis, muscle wasting, microcephaly, mental retardation, skeletal deformities, and cutaneous manifestations, ie, hypopigmented and hyperpigmented lesions and graying of the hair. An extensive workup including electromyography, muscle biopsy, and chromosomal analysis was unrewarding. An autosomal recessive inheritance is probable. A similar entity was recently reported from israel. The possibility that this previously unrecognized condition represents a new syndrome is suggested.
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006200:Hair Color; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics; D009128:Muscle Spasticity; D010243:Paralysis / Q000235:genetics*; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*; D013577:Syndrome