Radiology Quiz Case 4

Abstract

A 27-YEAR-OLD BOY PRESENTED WITH HEARing loss. He had a 20-year history of progressive bilateral visual loss. Bilateral decompression of the optic nerves had been performed 10 years earlier, with no improvement in visual acuity. The patient, who developed precocious puberty when he was 10 years old, also had abnormal skin pigmentation and epilepsy. Physical examination revealed a progressive “football-like” deformity of the cranial cavity and pathologic fractures of the legs that had occurred after minimal trauma. Because the patient’s external auditory canals were very narrow, the tympanic membrane could not be explored in either ear. Tonal audiometry showed normal hearing levels in the right ear and a mild conductive hearing loss in the left ear. A computed tomographic scan showed diffuse involvement of the skull base, with a heterogeneous pattern of sclerotic, cystic, and pagetoid changes. Both temporal bones were irregular and asymmetrically affected, with only narrow portions of perilabyrinthine bone involved (Figures 1, 2, and 3). What is your diagnosis?