P130 – 2830: Tay syndrome associated with Perthes disease

Abstract

Objective Trichothiodystrophy (TTD) is a rare group of autosomal recessive disorders of DNA repair characterized by photosensitivity, ichthyosis, sulfur-deficient brittle hair, intellectual impairment, decreased fertility, and short stature. Tay Syndrome refers to TTD with ichthyosis. Osteosclerosis and retarded skeletal age associated with TTD were reported in the literature. But osteochondrosis of the femur head (Perthes disease) with Tay syndrome had been reported in only one article. In this presentation, We report a case of Tay syndrome with additional features of Perthes disease. Case A 6 years-old-female presented to our clinic with complaint of frequently fell-down, knee pain for one year. She has classic clinical fetures of TTD including ichthyosis, alopecia, developmental delay, short stature, mental retardation, progeria-like face, tiger-tail banding of the hair shaft on polarizing microscopy. Brain MR imaging showed both diffuse dysmyelination and osteosclerosis findings. Hip MRI revealed stage III Perthes disease. Conclusion Tay syndrome is a rare autosomal recessive genodermatosis localized 19q13.2-q13.3, 6p25.3. Addition to the characteristic findings of this syndrome, also Perthes disease may be seen. The presence of diffuse dysmyelination, axial osteosclerosis and Perthes disease allow a spesific diagnosis.