Familial pathologic myopia, corneal dystrophy, and deafness: a new syndrome.

BACKGROUND: Numerous syndromes with myopia and hearing loss have been described up to now. We present a family with pathologic myopia, corneal dystrophy, and deafness distinct from these syndromes. CASES: Ten patients in the same Turkish family were evaluated by ophthalmologic, audiologic, physical, radiologic, genetic, serologic, and biochemical examinations. OBSERVATIONS: Ophthalmic examination indicated that all the cases had myopia, 7 of them had pathologic myopia, 1 had intermediate, and 2 had mild. Four of the patients with pathologic myopia had corneal dystrophy that was bilaterally manifest as white opacities in the posterior stroma near Descemet's membrane in an axial distribution; 1 of these 4 patients also had a tilted disc. Otolaryngologic examination revealed conductive hearing loss in 3 cases, mixed hearing loss in 2, and sensorineural hearing loss in 1. The results of karyotypic analyses of all cases were normal. The pedigree analysis showed the disease was inherited through successive generations as an autosomal dominant trait. The results of biochemical, serologic, and radiologic investigations were normal. The same pathophysiologic process in all cases seemed to account for the myopia, the corneal dystrophy and the deafness. CONCLUSIONS: To our knowledge, this type of case has not been reported in the literature. Therefore, we named this syndrome "familial pathologic myopia, corneal dystrophy and deafness."

Partial splenic embolization in beta-thalassemia major. A case report.

Partial splenic arterial embolization was performed in a thalassemic child for hypersplenism manifested by splenomegaly, leukopenia, thrombocytopenia, and anemia requiring frequent erythrocyte transfusion. During a follow-up period of 11 months, his hematological parameters improved significantly and the spleen size decreased. Partial splenic embolization could be an alternative therapy to surgical splenectomy for thalassemic children with hypersplenism.

Bone mineral density measurement by quantitative computed tomography in a normal Turkish population.

PURPOSE: To observe the trabecular and cortical bone mineral density values of a normal Turkish population, to examine the effect of age in males, and age and duration of menopause in a female population on bone mineral density. Also to compare Turkish population bone mineral density values with the reference values in developed countries. MATERIALS AND METHODS: Trabecular and cortical bone mineral densities were measured by the quantitative CT method in 255 (110 male and 145 female) normal cases. RESULTS: According to the linear regression test results, loss of bone mineral density per year was 1.97 mg/ml and 2.09 mg/ml for females and 1.37 mg/ml and 1.04 mg/ml for males in the trabecular and cortical bone compartments, respectively. A 70-year-old female loses 56.7% and 31.3% of the bone mass at 20 years of age for the trabecular and cortical compartments, respectively. These ratios were 41% and 16.1% for the male population. Most loss in bone mass was observed in the premenopausal and early postmenopausal period. In the postmenopausal period, duration of menopause had more effect on bone mass than age. Loss of trabecular bone mass per year in the postmenopausal period was 2.36 mg/ml and 2.84 mg/ml with respect to age and duration of menopause, respectively. CONCLUSIONS: Quantitative CT is a valuable method to determine bone mass because it allows to detect bone mass of trabecular and cortical bone separately. Loss in trabecular bone was found to be higher than in cortical bone for both sexes, while overall bone loss was higher in females. Rate of loss increases in the menopause period. Duration of menopause had more effect on bone mass than age. Bone mineral density values in Turkey were similar to reference values of western countries.

Ewing's tumor of the mandible.

A primary Ewing's tumor in the mandible is reported, and the diagnostic imaging features of this lesion are discussed. Modalities used included panoramic and plain films, computed tomography, and 99mTc-MDP scintigraphy.

Tuberous sclerosis: ocular findings and their correlation with cranial computed tomography.

In this study, cases with tuberous sclerosis (TS) with positive cranial computed tomography (CT) findings are ophthalmologically examined. Investigations revealed retinal hamartomas in all patients. The ocular findings and their correlation with cranial CT findings are presented.