گزارش يك مورد ديسپلازي فيبروز با يافته هاي غير معمول شامل كليه نعل استبي ، شلي مفاصل و نهان بيضگي

FIBROUS DYSPLASIA WITH UNUSUAL FEATURES

Fibrous dysplasia is a rare disease of the bone occuring as Monostotic or polyostotic form. Craniofacial Involvement is more prevalent in the polyostotic form. The most common neurologic findings in craniofacial type is hearing loss and blindness. We describe a rare case of polyostotic form of disease which presented with hearing loss, blindness and unusual features. The patient, a 20-yearold man, presented with visual loss and deafness. He had gradually lost vision of his left and then right eye over a period of six years. Two years after the beginning of his symptoms, tinitus and hearing loss appeared; first in the left and later in the right ear, so he was obliged to use bearing aids after that. He had a history of congenital dislocation of hip (CDH). IQ was normal. He had hypertelorism and bilateral proptosis, especially in his right eye. He had gynecomastia (grade III). Joint laxity was observed in his finger joints. Drawer sign was positive for both knees. Genital examination revealed that his pubic hair was normal but he had a macropenis and bilateral cryptorchism. On neurologic examination, visual loss in both eyes (light perception), bilateral optic atrophy and hearing loss were observed, but other neurologic examinations were normal. Skull X ray and CT scan showed generalized thickening of dipole and a hypodense zone in the right frontal region. MR1 of the brain revealed compression of optic nerves. Sonography of pelvis disclosed both testes in right and left inguinal areas. Abdominal CT scan showed that he had a horseshoe kidney . Visual fields showed central scotomas. PTA revealed mixed type hearing loss (sensori-neural and conductive). Blood chemistry showed increased alkaline phosphates. According to the above findings, diagnosis of fibrous dysplasia was proposed and confirmed by typical imaging findings. There was no indication for decompression of optic and cochlear nerves because lesions were irreversible, and therefore, only orchiopexy was performed for the patient.