Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux
Articles > Article · 2022
Authors: Murat C. Karatas, Havva YAZICI, Ayse E. Bozaci, Ebru Canda, Erturk Levent, Sema KALKAN UÇAR, Mahmut Coker
Archivos Argentinos de Pediatria, Journal Indexed in SCI, International, WoS, 2022, vol 120, pp e25-e28
Summary
Tay-Sachs disease is a neurodegenerative inherited metabolic disease. There are four forms classified by the time of first clinical symptoms: infantile, late infantile, juvenile and adult. Infantile , Ebru Candab, Ertürk Leventc , The infantile form has the poorest clinical prognosis. First symptoms of this form, such as muscle weakness and hypotonia, occur around form has the poorest prognosis. Lately, different abnormalities which accompany metabolic disorders and affect the prognosis have been described. We present an infant with Tay-Sachs disease accompanied by coarctation of the aorta and bilateral grade V vesicoureteral reflux (VUR). The patient was followed up in the outpatient clinic of Pediatric Cardiology. The abdominal ultrasonography showed pelvicalyceal ectasia; bilateral grade V VUR in voiding cystourethrography was found. This coexistence has not been previously reported. This case emphasizes that abnormalities in the neurological examination of cardiac postsurgical patients should not be underestimated because the opportunity to diagnose inborn errors of metabolism could be missed.