On the eye brain and kidney syndrome in 2 patients reported a.docVIP

 PAGE \* MERGEFORMAT 8 On the eye brain and kidney syndrome in 2 patients reported a [Abstract] Objective early diagnosis of eye, brain and kidney syndrome. Methods reported cases. The results have been Chihpen onset disease is a cause of autosomal recessive X. Conclusions can not be cured the eye, brain and kidney syndrome. [Keywords:] the eye, brain and kidney syndrome Cases: children with male, 1 year old in January, mainly due to a blind appeal to September 4, 2008 ENT hospital stay. Hospitalized in the ENT diagnosed with both eyes after cataract scheduled for bilateral cataract surgery. Preoperative routine physical examination When urine proteinuria, please pediatric consultation, after consultation into our department. Mother during pregnancy and birth history was normal. Family history in August 2005 his mother birth to a baby boy, died at 6 months. Examination: T: 36.2 ℃, R: 18 times / min, P: 74 times / min, consciousness clear, the state may be, blind eyes, neck soft, clear breath sounds lungs, heart rate: 74 beats / min, rhythm together, did not hear and pathological murmurs. abdomen is soft, liver and spleen ribs no time, limb hypotonia, reduced tendon reflexes. auxiliary examination: normal blood, urine: urine protein (three plus the blood: CO binding rate 38mmol / L. Liver series, six normal blood lipids. myocardial enzymes normal. CT examination: periventricular density reduction. MRI: T2 high signal relative to irregular flakes can be seen. pumping blood sent to the hospital line of superior genetic testing, diagnosis of eye, brain and kidney syndrome. Asked the families of children, children with his brother (August 2005 parent birth to a baby boy, died at 6 months) at the superior Hospital of genetic testing, diagnosis of eye, brain and kidney syndrome. Is now 1 year old brother in January, the parents wish Even if one day the children bring light and hope of cataract surgery to solve the problem. After careful