ABSTRACT
La enfermedad de Tay-Sachs es una enfermedad metabólica hereditaria neurodegenerativa. Existen cuatro tipos según el inicio de los síntomas clínicos: infantil, infantil de inicio tardío, juvenil y adulto. El tipo infantil tiene el peor pronóstico. Recientemente, se describieron diferentes anomalías que acompañan a los trastornos metabólicos e influyen en el pronóstico. Presentamos el caso de un lactante con enfermedad de Tay-Sachs junto con coartación aórtica y reflujo vesicoureteral bilateral (RVU) de grado V. Se realizó el seguimiento del paciente en el consultorio externo de Cardiología Pediátrica. En la ecografía abdominal, se observó ectasia pielocalicial, y se detectó reflujo vesicoureteral bilateral de grado V en la cistouretrografía miccional. No se ha informado previamente la coexistencia de estas anomalías. Este caso pone de manifiesto que no se deben subestimar las anomalías del examen neurológico en los pacientes con una cirugía cardíaca reciente, porque podría perderse la oportunidad de diagnosticar enzimopatías congénitas.
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 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.
Subject(s)
Humans , Male , Infant , Aortic Coarctation/complications , Aortic Coarctation/diagnosis , Tay-Sachs Disease/diagnosis , Vesico-Ureteral Reflux/complications , Vesico-Ureteral Reflux/diagnosisABSTRACT
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.
La enfermedad de Tay-Sachs es una enfermedad metabólica hereditaria neurodegenerativa. Existen cuatro tipos según el inicio de los síntomas clínicos: infantil, infantil de inicio tardío, juvenil y adulto. El tipo infantil tiene el peor pronóstico. Recientemente, se describieron diferentes anomalías que acompañan a los trastornos metabólicos e influyen en el pronóstico. Presentamos el caso de un lactante con enfermedad de Tay-Sachs junto con coartación aórtica y reflujo vesicoureteral bilateral (RVU) de grado V. Se realizó el seguimiento del paciente en el consultorio externo de Cardiología Pediátrica. En la ecografía abdominal, se observó ectasia pielocalicial, y se detectó reflujo vesicoureteral bilateral de grado V en la cistouretrografía miccional. No se ha informado previamente la coexistencia de estas anomalías. Este caso pone de manifiesto que no se deben subestimar las anomalías del examen neurológico en los pacientes con una cirugía cardíaca reciente, porque podría perderse la oportunidad de diagnosticar enzimopatías congénitas.
Subject(s)
Aortic Coarctation , Tay-Sachs Disease , Vesico-Ureteral Reflux , Adult , Aortic Coarctation/complications , Aortic Coarctation/diagnosis , Child , Humans , Infant , Tay-Sachs Disease/diagnosis , Vesico-Ureteral Reflux/complications , Vesico-Ureteral Reflux/diagnosisABSTRACT
OBJECTIVE: To determine the effect of iodine containing antiseptics on thyroid function for the first 3 weeks in non-very-low-birth weight preterm and term babies, and to evaluate their thyroid function and behavioral status 7 years later. METHODS: Cohort I (between the years 1997-1998) was studied in 57 preterm (30-35 weeks) and 29 term newborns, 7 years later cohort II (in the year 2005) was created from same 28 preterm and 18 term infants at Behcet Uz Children's Hospital, Izmir, Turkey. Serum thyrotropin, triiodothyronine, total and free thyroxine were measured on the first, seventh, and twenty-first days (cohort I), and at the age of 7 (cohort II). In respect of used antiseptics, the patients were divided into 2 groups. The evaluation of patients was performed according to the Turgay Diagnostic and Statistical Manual for Psychiatric Disorders, 4th edition based child and adolescent behavior disorders screening and rating scale. RESULTS: On the seventh day of life, iodine-exposed newborns had significantly higher mean thyrotropin levels and lower free thyroxine, total thyroxine, and triiodothyronine levels. On the twenty-first day, thyrotropin levels of iodine-exposed newborns were similar to controls. The cohort II results showed normal thyroid function in all patents with increased hyperactivity among children born prematurely, and particularly experienced exposure to iodine. CONCLUSION: Iodine excess may cause transient hypothyroxinemia in preterm babies (>30 weeks gestational age, >1.5 kg) and this may be one of the reasons for behavior problems observed later in these children.
