Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux

• Published in: Archivos argentinos de pediatría Vol. 120; no. 1; p. e25
• Main Authors: Karataş, Murat Ç, Yazıcı, Havva, Bozacı, Ayşe E, Canda, Ebru, Levent, Ertürk, Uçar, Sema K, Çoker, Mahmut
• Format: Journal Article
• Language: English
• Published: Argentina 01-02-2022
• Subjects: Adult; Aortic Coarctation - complications; Aortic Coarctation - diagnosis; Child; Humans; Infant; Tay-Sachs Disease - diagnosis; Vesico-Ureteral Reflux - complications; Vesico-Ureteral Reflux - diagnosis; GM2 gangliosidosis; inborn errors of metabolism; congenital abnormalities; aortic coarctation; lysosomal storage disorder
• ISSN: 0325-0075; 1668-3501
• DOI: 10.5546/aap.2022.eng.e25

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.