Search

We report on the rare case of 7-year-old child presenting with frequent and apparently benign premature ventricular complexes (VPC) and left ventricular dysfunction. No structural disease of the heart was seen at cardiological evaluation. Eighteen months after the introduction of an antiarrhythmic treatment with low-dose bisoprolol, Holter monitoring showed 70,000 VPC in 24h with left ventricular function remaining decreased. Six months after increasing the dose of bisoprolol, the VPC were less frequent and left ventricular function was completely normalized. This case was characteristic of a cardiomyopathy induced by frequent premature ventricular contractions., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)

Heart murmurs are common in children and adolescents. Although most are innocent, an isolated heart murmur in asymptomatic children may be the sole finding indicating serious heart disease. Historical elements of familial heart disease, cardiovascular symptoms and a well-conducted medical examination can identify children with an increased risk of heart disease. The distinction between an innocent heart murmur and a pathologic heart murmur is not always easy for primary care physicians because most of them have little experience with auscultation searching for congenital heart malformation. Echocardiography provides a definitive diagnosis of heart disease but is not required in case of innocent murmur. Inappropriate pediatric cardiologist and echocardiographic referral leads to useless and expensive examinations, resulting in a work overload for pediatric cardiologists. The objective of this review is to provide the keys to differentiate innocent and pathologic murmurs, and to help physicians decide on the optimal diagnostic strategy., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)

Fetal intrapericardial teratomas are uncommon and usually benign. Their histology is the same as that of teratomas located elsewhere. They may cause death from non-immune hydrops fetalis and cardiac tamponade. We report a case that was successfully managed prenatally by placement of a pericardial amniotic shunt., (Copyright © 2011 Elsevier Masson SAS. All rights reserved.)

Unlabelled: The value of prenatal diagnosis of major congenital heart diseases (CHDs) has already been proved. In this study, we observed the evolution of the detection rate of CHDs and the quality of the diagnoses over a 15-year period in the Indre-et-Loire department of France., Method: Retrospective analysis of the quantitative and qualitative data of prenatal diagnosis between 2000 and 2005 (period 3) and comparison with studies conducted from 1991 to 1994 (period 1) and from 1995 to 1999 (period 2). The CHDs considered to be detectable are the major CHDs with neonatal symptoms. In order to analyze the quality of prenatal diagnosis, each diagnosis was classified as correct, false, or incomplete during period 3., Results: Period 3: 65.7% detectable CHDs were screened. Using period 1 criteria for prenatal diagnosis, the percentage of CHDs detected for periods 1, 2, and 3 was 43.2, 66.7, and 78%, respectively. Between periods 2 and 3, the detection rate increased from 52 to 74% for CHDs diagnosed with the visualization of the outflow tract. It increased from 63 to 71% for CHDs diagnosed with a four-chamber view. During period 3, diagnoses made by a pediatric cardiologist were correct and complete in 80% of cases. It was less than 25% otherwise., Conclusion: The improvement of prenatal diagnosis over time results from technological progress, the greater experience of ultrasonographers, and the systematic visualization of the outflow tract in addition to the four-chamber view. Despite the improvement in prenatal diagnosis, one-third of major CHDs were not screened before birth. Pediatricians still need to diagnose CHDs after birth., (Copyright © 2011 Elsevier Masson SAS. All rights reserved.)

Pompe disease is an autosomal recessive glycogen storage disorder caused by acid-alpha-glucosidase deficiency. The infantile form is usually fatal by 1 year of age in the absence of specific therapy. We report the cardiac follow-up of a 4-month-old boy treated with enzyme replacement therapy (ERT) for 8 months. The patient had no cardiac failure at the age of 1 year. Before starting ERT, ECG showed a shortened PR interval, with huge QRS complexes and biventricular hypertrophy; echocardiography demonstrated major hypertrophic cardiomyopathy. The QRS voltage (SV1+RV6) decreased from 13 to 2.9 mV after 32 weeks of ERT, suggesting a progressive reduction of cardiac hypertrophy and intracellular glycogen excess. The PR interval increased from 60 to 90 ms. A block of the right bundle branch appeared after 13 weeks of treatment. The indexed left ventricular mass decreased from 240 to 90 g/m2 after 30 weeks of ERT. The left ventricular ejection fraction decreased transitorily between the 5th and the 15 th weeks of treatment. In summary, ERT is an efficient therapeutic approach for the cardiomyopathy of infantile Pompe disease. However, the possible occurrence of a right bundle branch block and a transitory alteration in the ejection fraction highlight the importance of cardiac follow-up.

We describe two cases of congenital varicella. The first presented with cutaneous aplasia and scars; the second with skin abnormalities, limb atrophy, limb paresis, Horner's syndrome and liver calcifications: prognosis was poor in this case. After reviewing the published cases of congenital varicella, we advocate the use of varicella vaccine in seronegative women before pregnancy.

Unlabelled: Metopic craniosynostosis may be an adverse effect of valproic acid exposed fetus., Cases: We report two infants with metopic craniosynostosis, born to mothers who were treated with valproic acid. In one case, a prenatal diagnosis was made. In the other case, only the male dizygotic twin was affected., Conclusion: Trigonocephaly may be a symptom of valproate embryofoetopathy detectable by antenatal ultrasound examination.

Unlabelled: Hepatic hemangioendothelioma can have a fatal outcome. After failure of classic therapies, and when surgery or arterial embolization are not possible, those benign tumours may benefit from interferon alpha treatment., Case Report: We report a case of a 14-month-old infant who presented with hepatic hemangiomatosis and cardiac failure. The disease can neither be controlled by steroids nor by radiotherapy associated with digitalo-diuretic treatment. Due to the important vascular volume of the tumour, neither surgical care nor arterial embolization were possible. Thus this infant was treated for ten months by interferon alpha. The evolution was favourable: cardiac failure, calcifications and volume of the angiomatosis were regressive., Conclusion: Interferon alpha treatment helps to control cardiac failure and the course of hepatic hemangioma in childhood.

Unlabelled: Drug administration during the last trimester of pregnancy may have adverse effects for the newborn., Case Report: A hemolytic anemia occurred during the first hours of life in a full-term neonate whose mother had taken nitrofurantoin during the last month of pregnancy., Conclusion: The immature enzymatic systems of the neonate are exposed to this adverse effect and justify the recommendation not to prescribe nitrofurantoin at the end of pregnancy.

Unlabelled: The association of aplasia cutis congenita and aortic coarctation could be a coincidence., Case Report: A neonate was born with an aplasia cutis congenita in the midline of the scalp. When she was two months old, an aortie coarctation was detected and surgically resected. Spontaneously, the scalp gradually cicatrized., Conclusion: A search for a candidate gene in this second reported case is mandated.

Background: Neonatal myoclonic encephalopathy is of lesional or metabolic origin; non ketotic hyperglycinemia is one of its causes., Case Report: A girl, born from consanguineous parents, died from myoclonic epileptic encephalopathy at the age of 3 months. Screening for metabolic disease was negative, except for increased levels of urine serotonin and 5-hydroxyindol-acetic in cerebrospinal fluid, blood and urine. Two sisters died with non ketotic hyperglycinemia, corpus callosum agenesis and clubfoot., Conclusion: Familial occurrence of non ketotic hyperglycinemia and early myoclonic epileptic encephalopathy is uncommon.

Unlabelled: Hypoglossia is a rare malformation that is not fatal, unlike otocephaly., Case Report: A neonate, born at 39 weeks of GA and dead at 5th day showed hypoglossia, dextrocardia, situs inversus and pituitary aplasia. Maternal hyperthermia was observed at 4 weeks gestation., Conclusion: This case is reminiscent of a community of syndrome with agnathia-holoprosencephaly and situs inversus. The responsibility of maternal hyperthermia is raised.

Background: Neonatal meningitis due to Alcaligenes xylosoxydans is exceptional; its diagnosis and treatment may be difficult., Case Report: A neonate born at 42 weeks of GA to a mother who worked as a nurse in an intensive care unit was admitted on day 2 for a severe infection. Her cerebrospinal (CSF) contained 1,970 white cell/mm3, polymorphonuclear in majority: direct examination failed to show any germ but the CSF and blood cultures were positive for Alcaligenes xylosoxydans, a strain that was resistant to the initially given antibiotics. The patient was given piperacillin, 300 mg/kg/d for 21 days and completely cured with a follow-up of 6 months., Conclusions: This case shows that lombar puncture can be necessary in evaluating early neonatal sepsis; it also shows usefulness of piperacillin in some cases.