Sporadic association of Legg–Calve–Perthes disease with rare phakomatoses-Gomez-Lopez-Hernandez syndrome

Abstract

Gomez-Lopez-Hernandez syndrome (GLH) is a very rare phakomatosis, which is characterized by the triad of rhombencephalosynapsis, facial anesthesia in the trigeminal area, and scalp alopecia. A 9-year-old boy with pain and limping right hip for 6 months was presented. Clinically, he was having bilateral symmetrical temporal alopecia, strabismus, and pseudoproptosis. Magnetic resonance imaging brain shows cerebellar fusion. Examination of the hip was consistent with the diagnosis of Perthes disease. Even though some of the phakomatoses are associated with skeletal abnormalities, there is no association of any phakomatoses with Legg–Calve–Perthes disease (LCPD) of the hip. This will be the first ever report of an association of GLH syndrome with LCPD.