R. NICKBRYANMDPATRICIA A.HUDGINSMD
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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.
Verdaguer JM, Lobo D, García-Berrocal JR, Ramírez-Camacho R, Trinidad A. Radiology Quiz Case 4. Arch Otolaryngol Head Neck Surg. 2005;131(2):181. doi:10.1001/archotol.131.2.181