alaygut, demet cumhuriyet university - faculty of medicine - department of pediatric nephrology, Turkey , kılıç, suar çakı cumhuriyet university - faculty of medicine - department of pediatric hematology, turkey , ölmez, meryem cumhuriyet university - faculty of medicine - department of pediatrics, Turkey , gültekin, asım cumhuriyet university - faculty of medicine - department of pediatrics, Turkey , içağasıoğlu, füsun dilara cumhuriyet university - faculty of medicine - department of pediatrics, Turkey

A rare disorder in an infant with Goldenhar syndrome and nephrolithiasis: Alkaptonuria

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Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxidase. Characteristic features include darkening of urine, ochronosis, and arthropathy. Darkening of urine is the only sign of the disorder in the pediatric age group. Goldenhar syndrome, also known as oculoauriculovertebral dysplasia, is an uncommon condition, characterized by a incomplete development of the ear, nose, soft palate, lip, and mandible. Renal and genitourinary malformations have also been reported with the complex. A 14-month-old boy with Goldenhar syndrome presented to our clinic with the complaint of nephrolithiasis, and bluish black staining of clothes. There are reports on nephrolithiasis in alkaptonuria (AKU) in middle and late adulthood patients. However, the occurrence of this complication in affected children has not been analysed so far. This report is discussed for the early diagnosis, the development of complication of nephrolithiasis and co-existence with Goldenhar syndrome.

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Alkaptonuria , goldenhar syndrome , infant , nephrolithiasis

Cumhuriyet Medical Journal

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