Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal

Teebi et al. (1998) reported 2 female sibs born to first-cousin Iranian parents. Both children had spastic paraplegia, optic atrophy with poor vision, microcephaly, and normal cognitive development. Karyotype analysis showed a normal 46,XX pattern in 1 sib and 46,XY in the other. The XY female showed normal female external genitalia, normal uterus and fallopian tubes, and streak gonads. SRY gene (480000) sequencing was normal. Teebi et al. (1998) concluded that this constellation of features could represent a previously unrecognized syndrome either in the category of syndromic hereditary spastic paraplegia or XY sex reversal. They also concluded that the presence of parental consanguinity and the involvement of sibs of both genotypes were suggestive of autosomal recessive inheritance.