Coexistencia infrecuente de la enfermedad de Tay-Sachs, coartación aórtica y reflujo vesicoureteral de grado V / Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux

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.

Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux. / Coexistencia infrecuente de la enfermedad de Tay-Sachs, coartación aórtica y reflujo vesicoureteral de grado V.

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.

Native valve endocarditis due to Candida albicans in two children: Two new case reports.

Candida endocarditis (CE) is a rare and serious complication of candidemia. Using current diagnostic tools a confirmed diagnosis is often delayed and outcomes remain poor. The majority of new cases occur following cardiac valvular surgery, and/or in patients with the following risk factors: intravenous drug use, cancer chemotherapy, prolonged presence of central venous catheters, and prior history of bacterial endocarditis. It is not a common complication in non-neutropenic patients particularly with the absence of a prosthetic valve, and very few reports in the literature are available. Attempting to add to the limited data, 211 candidemia episodes from 172 nonneutropenic pediatric cases between January 2008 and December 2017 were evaluated. All patients were considered asymptomatic for underlying heart disease. However, 2 (0.9%) patients with a central venous catheter were determined as having endocarditis following echocardiography.

Chitotriosidase as a possible marker of clinically evidenced atherosclerosis in dyslipidemic children.

A correlation has been clearly shown between inflammation markers and subclinical atherosclerosis markers in the early stages of atherogenesis in subjects with familial hypercholesterolemia (FH). The aim of this study was to investigate potential inflammation markers in the diagnosis of atherosclerosis in children with FH. A total of 48 dyslipidemic children and 24 healthy age-matched control subjects were taken into study. Inflammation and macrophage activation markers (hsCRP, myeloperoxidase, chitotriosidase, YKL-40, TNF-α, IL-6, IL-18, MMP-1 and MMP-9) and lipid parameters of all patients were measured. Carotid intima-media thickness (cIMT) and flow-mediated dilation (FMD) levels were determined. Our data suggested that clinically evidenced (by cIMT and FMD levels) atherosclerosis starts in the early ages in hypercholesterolemic children. Higher cholesterol levels strongly correlated with macrophage activation markers (ChT, YKL-40 and myeloperoxidase). ChT and YKL-40 seem to be the more predictable markers of atherosclerosis even in early ages (<6 years old) than other classical inflammation markers such as hs-CRP, IL-6 and TNF-α.

Cardiovascular consequences of bronchopulmonary dysplasia in prematurely born preschool children.

BACKGROUND: A limited number of studies have reported various short-term cardiovascular changes in bronchopulmonary dysplasia (BPD) patients in the postsurfactant era. Little is known about the course of these changes in children with BPD. OBJECTIVES: It was the aim of this study to investigate cardiovascular consequences of BPD at preschool ages and to find out possible risk factors related to cardiovascular sequelae. METHODS: Prematurely born children with (n = 21) and without BPD (n = 20) were evaluated with conventional and myocardial tissue Doppler echocardiography at the age of 2-4 years. RESULTS: BPD patients had a decreased pulmonary artery acceleration time and higher left and right ventricular myocardial performance indexes, consistent with higher pulmonary pressures and impaired biventricular systolic and diastolic functions at preschool ages. Low birth weight, disease severity and postnatal cumulative steroid dose were related to these changes. CONCLUSION: Negative effects of BPD on global cardiac performances of both ventricles and pulmonary arterial pressure persist up to preschool ages.

Role of digoxin-like immunoreactive substance in the pathogenesis of transient tachypnea of newborn.

BACKGROUND: Transient tachypnea of newborn (TTN) is usually observed in term or near-term infants. It constitutes an important part of the respiratory distress cases observed in the neonatal intensive care unit (NICU). AIM: This paper examines the effects of digoxin-like immunoreactive substance (DLIS) on fluid and ion balance, hemodynamic and echocardiographic parameters of neonates with TTN. METHODS: Plasma DLIS, Na(+), K(+), urea, creatinine, serum and urine osmolarity, urine FeNa(+), 24-hour urine output, echocardiographic investigation and mean blood pressure, and clinical parameters of disease severity were recorded in TTN group and compared with control on the 1st and 7th days of their lives. RESULTS: Plasma DLIS levels were statistically higher in TTN group (0.66 ± 0.37 ng/mL) compared to control group (0.24 ± 0.20 ng/mL) both on the 1st day (P < 0.01) and the 7th day (P < 0.05). For TTN group, significant correlation was found between plasma DLIS levels and maximum respiratory rate, duration of tachypnea, and length of hospitalization on the 1st day. Plasma DLIS levels were correlated negatively with serum osmolarity levels. Plasma DLIS levels were positively correlated with urine output, urinary FeNa(+) levels, cardiac output, left ventricles end diastolic diameters, and right ventricles end diastolic diameters. CONCLUSIONS: Increased DLIS levels were correlated with disease severity in cases with TTN. This increase may be a primary or secondary event in the disease progress. It may help reduce the fluid overload due to already disturbed cardiac functions in patients by increasing urine output and natriuresis; however it may also contribute to disease pathogenesis, by inhibiting alveolar Na(+)-K(+)-ATPase which further decreases fetal alveolar fluid resorption.

Propranolol as the first-line therapy for infantile hemangiomas: preliminary results of two centers.

AIM: Despite a mostly self-limiting course, infantile hemangiomas can cause severe functional and/or cosmetic problems. The aim of this study was to determine the efficiency of propranolol treatment on infantile hemangiomas. METHODS: Sixty-seven infantile hemangioma patients were included in propranolol protocol in two institutions from 2009 to 2011. Participants included 36 boys and 31 girls. An associate protocol with radiology and pediatric cardiology was constructed for appropriate patient selection. Patients received a dose of 2 mg/kg/day, and all were admitted for the first 24 hours of therapy. RESULTS: Sixty-seven patients were included in the study. Mean age at the initiation of therapy was 7 months (1 to 24 months), and eleven patients were older than 12 months of age when propranolol was started. All patients showed improvement with varying responses. No side effects were detected during the treatment. CONCLUSION: Previously defined treatments for hemangiomas were efficient, yet had a limited usage because of side effects. Propranolol, with a high efficacy (not as total involution but stabilization and regression) and feasibility deserves to be the first line therapy for infantile hemangiomas even after the proliferation phase.

Plasma natriuretic peptides levels and echocardiographic findings in late subclinical anthracycline toxicity.

The purpose of this study was to evaluate late cardiac toxicity by comprehensive echocardiographic study, and to determine whether plasma atrial natriuretic peptide and brain natriuretic peptide levels might be indicators of neurohumoral activation. The study included 49 long-term survivors and 21 controls. A wide variety of echocardiographic parameters were measured or calculated. Plasma peptide levels were determined. Patients had significant changes in different echocardiographic parameters that are suggestive of LV systolic and diastolic dysfunction. Plasma peptide levels were not increased. The authors have found significant subclinic cardiotoxicity by echocardiography. Survivors seem to have normal plasma natriuretic peptide levels in long-term period.

A rare complication of central catheter in an infant with intestinal failure.

OBJECTIVE: To report the successful percutaneous transcatheter removal of a snapped intracardiac fragment of the central vein catheter in an infant. CLINICAL PRESENTATION AND INTERVENTION: A 3-month-old infant with short bowel syndrome who required long-term parenteral nutrition via portacath central catheter was hospitalized. Two months after the insertion of the second catheter, the distal tip of the catheter snapped and became tangled in the heart. The catheter fragment was removed by a percutaneous femoral vein approach using a 10-mm diameter snare-loop catheter (Amplatz). The procedure was performed under fluoroscopy; the fragment was removed after being released into the right ventricle by pulling the proximal tip with a pigtail catheter. No complications were observed and the patient was transported back to the intensive unit in stable condition. CONCLUSION: Central catheter-related complications may cause difficulties in patients with short bowel syndrome prior to intestinal transplantation. The percutaneous retrieval of the fragmented catheter using a snare-loop catheter is a safe and reliable technique and may be used instead of surgery especially in small infants.

Frequency of acquired von Willebrand's disease in children with congenital heart disease.

OBJECTIVE: Bleeding tendency of paediatric patients with congenital heart disease has been well recognized. The underlying pathologies of this bleeding tendency have been studied extensively and many causes were identified. Among these causes, we aimed to find the frequency of acquired von Willebrand's disease (AvWD) in children with congenital heart disease. MATERIAL AND METHODS: Forty-nine children with different forms of congenital cardiopathies who were assigned for surgery, are included in the study. Serum von Willebrand factor antigen level as well as ristocetin cofactor agglutination ratios were determined preoperatively and at one week and 6 months postoperatively. RESULTS: Six patients (12.2%) were found to have AvWD. However, we found no relation between bleeding tendency and AvWD status. CONCLUSION: Although frequency of von Willebrand factor deficiency is higher in children with congenital heart disease than in the normal population, this condition does not result in adverse clinical outcomes like increased bleeding tendency during operation.

Stiffness of the abdominal aorta in beta-thalassemia major patients related with body iron load.

OBJECTIVES: Increased iron stores have been implicated in the association with increased risk of cardiovascular events. We evaluated whether the abdominal aortic stiffness was altered in the patients with beta-thalassemia major in relation with body iron load. METHODS: Sixty-two (32 males and 30 females) beta-thalassemia major patients aged 16.47 +/- 4.8 years were enrolled into the study. Healthy 52 subjects matched for age and sex were recruited as controls. In all subjects, hemoglobin, fasting glucose, cholesterol, high-density lipoprotein-cholesterol, and low-density lipoprotein-cholesterol levels were measured. The average serum ferritin level and liver iron concentration (LIC) were assessed in thalassemia patients. Left ventricular function and mass were evaluated echocardiographically and aortic strain (S), pressure strain elastic modulus (Ep), and normalized Ep (Ep*), aortic distensibility (DIS), and beta stiffness index (beta index) were calculated in all subjects. RESULTS: There was no statistically significant difference between the study and control groups in sex, mean age, body mass index, heart rate, and systolic blood pressure (P > 0.05). However, pulse pressure and left ventricular mass index (LVMI) were found higher in thalassemia major patients compared with the control group. In beta-thalassemia major patients S (0.21 +/- 0.027 vs. 0.26 +/- 0.017, P < 0.0001) and DIS (1.07 +/- 0.25 vs. 1.56 +/- 0.37, P < 0.0001) were significantly lower compared with the control group. However, Ep (196.9 +/- 44.86 vs. 134.20 +/- 29.10, P < 0.0001), Ep* (3.26 +/- 0.98 vs. 2.04 +/- 0.60, P < 0.0001), and beta index (2.44 +/- 0.58 vs. 1.61 +/- 0.37, P < 0.0001) were significantly higher in beta-thalassemia patients than controls. There was a statistically significant negative correlation between LIC and S, DIS. There was also negative correlation between LVMI and S. However, there was a statistically significant positive correlation between LIC and Ep, Ep*. CONCLUSIONS: Increased abdominal aortic stiffness was detected in beta-thalassemia major patients and this increase in arterial stiffness correlated with LIC and LVMI.

Evaluation of aortic stiffness in tobacco-smoking adolescents.

PURPOSE: To measure the aortic stiffness in tobacco-smoking adolescents and to investigate its relationship to tobacco smoke. METHODS: Aortic strain (S), pressure strain elastic modulus (E(p)), and normalized E(p) (E(p)*) in tobacco-smoking adolescents and the healthy control group were measured by a sphygmomanometer with cuff and transthoracic echocardiography. The study group consisted of 30 healthy cases (M/F: 27/3) as a control group and 30 tobacco-smoking volunteer adolescents (M/F: 28/2). Unpaired Student's t-test was used for comparison of these groups. RESULTS: The mean ages were 16.1 +/- 1.8 years and 16.2 +/- 1.4 years, respectively. The number of cigarettes smoked per day was 31 +/- 7.1 and the duration of smoking was 3.4 +/- 1.1 years. S, E(p) and E(p)* measurements of tobacco smokers were different than the control groups' and this difference was statistically significant. S values were significantly higher in nonsmokers than in smokers; whereas E(p) and E(p)* values were significantly higher in smoker group. CONCLUSIONS: This study demonstrated that measurement of aortic stiffness with S, E(p), and E(p)* can be used as an early indicator of atherosclerosis in tobacco-smoking adolescents.

Discrete subaortic stenosis: surgical outcomes and follow-up results.

Discrete subaortic stenosis, which is an obstructing lesion of the left ventricular outflow tract, remains a surgical challenge. The recurrence rate is high despite sufficient conventional resection. We retrospectively reviewed the results of surgery for discrete subaortic stenosis at our institution from September 1995 through March 2001. Twenty-one patients with this lesion underwent surgical treatment during this period. Excision of the fibromuscular membrane with myectomy was performed in all of the patients. Follow-up in all patients ranged from 7 to 67 months (mean follow-up period, 39.57 +/- 15.46 months). The mean systolic gradient between the left ventricle and the aorta decreased from 59.23 +/- 35.38 mmHg preoperatively to 9.47 +/- 9.91 mmHg postoperatively. There was no instance of heart block that required a permanent pacemaker, nor of bacterial endocarditis. There was no early or late postoperative death. A 22nd patient, who had 3+ aortic regurgitation, required aortic valve replacement and was excluded from the study. Two of the patients (9.5%) underwent reoperation because of recurrent gradient and residual ventricular septal defect. Our results suggest that fibromuscular membrane excision combined with myectomy in patients with discrete subaortic stenosis produces sufficient relief of obstruction with low morbidity.

Dissection of aorta: a pediatric case report.

We present a 15-year-old boy who developed sudden walking disability and sensory loss. He could not stand up on his feet and had no feeling following a sudden fall while playing basketball. He had been referred to a local hospital with these symptoms. In his physical examination absence of deep tendon reflexes and sensory loss were noted. His arterial blood pressure was 210/160 mmHg. He was transferred to our hospital with these findings and diagnosis of Guillain-Barré syndrome and hypertensive encephalopathy. There was sudden onset of sensory loss, walking disability and history of trauma. In the following hours hematuria, back pain and lower extremity ischemia developed. We suspected spinal artery injury based on the findings. Dissection of descending aorta was established with the help of magnetic resonance imaging of spinal region and contrasted aortography. The patient went to surgery immediately. He was lost on the second day after operation because of malperfusion. We report this case because dissecting aorta is very rare in the pediatric age group. High index of suspicion and early aortography are needed to diagnose aorta dissection.