2015 Volume 28 Issue 2 Pages 158-163
Renal coloboma syndrome is a disease caused by mutations in the PAX2 gene, and is characterized by optic nerve dysplasia and renal malformations. We experienced treating an 11-year-old male who was diagnosed as having renal coloboma syndrome, with afebrile convulsions as the chief complaint. He exhibited proteinuria in his urinalysis that year for the first time, and a family history of renal disease (abnormal urinalysis findings, renal failure) was noted. Following afebrile tonic convulsion with respiratory depression during sleep, the patient was transported by ambulance to our hospital. We detected hematuria, proteinuria, and mild renal dysfunction. In addition to an increase in the echogenicity of the renal parenchyma detected by ultrasonography, focal glomerulosclerosis was observed by renal histopathological analysis. We also detected congenital nystagmus, right divergent strabismus, and optic disc coloboma. In the second episode of his afebrile convulsions, EEG showed abnormal findings. On the basis of these abnormal findings, he was diagnosed as having localization-related epilepsy. For which he was administered an anticonvulsant agent. We found a new mutation (c.58_64dup) by PAX2 gene analysis. Over 4 years, his renal dysfunction progressed gradually. A careful follow-up of future progress is needed for this patient.
