A rare disorder in an infant with Goldenhar syndrome and nephrolithiasis: Alkaptonuria
Journal Title: Cumhuriyet Medical Journal - Year 2016, Vol 38, Issue 4
Abstract
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.
Authors and Affiliations
Demet Alaygut, Suar Çakı Kılıç, Meryem Ölmez, Asım Gültekin, Füsun Dilara İçağasıoğlu
Keywords
Related Articles
- EP ID EP238288
- DOI 10.7197/cmj.v38i3.1008002421
- Views 143
- Downloads 0
The relationship between ABO blood types and development of cerebral venous sinus thrombosis
Objective: Several studies in the last few decades demonstrated that patients with non-O blood groups (A, B, AB) have increased prothrombic tendency. In addition, many thrombotic disorders have been shown to be closely r...
Double fenestration of the ipsilateral internal jugular vein
Double fenestration of the ipsilateral internal jugular vein
C3 glomerulopathy disease
C3 glomerulopathy is a recently defined disease that encompasses a group of kidney diseases caused by abnormal control of complement activation. C3G is characterized bydeposition of dominant complement C3 with absence/tr...
Evaluation of abdominal aortic aneurysm rupture in emergency department: Case report
Abdominal aortic aneurysm (AAA) is a common chronic degenerative disease of the abdominal aorta leading to progressive dilatation, thrombosis, rupture and distal embolization. It is defined as exceed 30 mm or 50% increas...
MRI assessment after reduction in developmental dysplasia of hip
Objective: In this study, the effectiveness of magnetic resonance imaging (MRI) in patients with developmental dysplasia of the hip (DDH) after reduction was examined. Method: Forty-two hips of 31 patients treated betwee...