EMC - Pédiatrie最新文献

Age is an important factor in rhythmology. In newborns and neonates, the rate of atrial flutter is high, at 400 bpm. Following the conversion, there are usually no recurrences after the age of one year. Polymorphic atrial tachycardia is defined by the combination of atrial salvos of different morphologies and non sustained episodes of atrial fibrillation and flutter. Recovery may be achieved after few months. Junctional ectopic tachycardia is a severe arrhythmia which progressively slows down after a few years of amiodarone therapy. Paroxysmal supra-ventricular tachycardia in infants has a high rate and frequently induces congestive heart failure if not treated. In most cases, recovery is achieved before the age of 1 year. Electrophysiological testing of a Wolff Parkinson White pattern may be a valuable tool, before the age of twelve. Prophylactic radiofrequency ablation of accessory-pathway with shorter refractory periods is advisable. Primary chronic arrhythmias, such as permanent junctional reciprocating tachycardia, chronic atrial tachycardia, or some forms of ventricular tachycardia, can be complicated by tachycardia-induced cardiomyopathies in children. Long-term prognosis is favourable provided long term medical therapy is undertaken, or ablation. Many paroxysmal ventricular arrhythmias have a poor prognosis due to the risk of sudden death. Molecular biology has allowed improving the knowledge and pathophysiology of hereditary ventricular arrhythmias such as long QT syndrome, Polymorphic Ventricular Tachycardia and Brugada syndrome. In case a child is affected by one of these syndromes, all family members should be tested both clinically and genetically. Prognosis of congenital complete atrio-ventricular block and paroxysmal vagal overactivity is discussed.

Acute rheumatic fever (ARF) is a systemic illness that may occur following group A beta haemolytic streptococcal pharyngitis in children. As indicated by laboratory and epidemiological evidences, ARF may result from an autoimmune response; however, the exact pathogenesis remains unclear. ARF is a major problem in countries with limited resources. It affects the cardiac valves and muscle, joints, skin and central nervous system. The treatment consists of anti-inflammatory drugs. Preventive and prophylactic therapy is indicated to prevent further valve damage. Primary prophylaxis (initial course of antibiotics administered to eradicate the streptococcal infection) also serves as the first course of secondary prophylaxis: an injection of benzathine Penicillin G every 3 or 4 weeks.

Childhood diabetes mellitus is mostly insulin-dependent and caused by autoimmune destruction of the pancreatic islet β-cells (type 1 diabetes). The annual incidence is increasing in France, reaching now 10 new cases/100 000 children between 0 and 15 years of age. Approximately 75 % of diabetes are diagnosed on polyuria, polydipsia, polyphagia, and weight loss. Ketoacidosis occurs in 25 % of newly diagnosed diabetes. Diagnostic criteria for diabetes mellitus include symptoms of diabetes associated with a random plasma glucose > 200 mg/dl. Bêta-cell autoantibodies (ICA, anti-GAD, anti-insulin and anti-IA2) are present in at least 90 % of children with newly diagnosed diabetes. Ketoacidosis in subjects with established diabetes often results from a deliberate cessation of insulin treatment in adolescents. The manifestations are tachypnea and abdominal pain. The major life-threatening complications of ketoacidosis are hypokaliemia, pulmonary aspiration, and cerebral edema, with 1-2 % mortality. Hypoglycemia is defined by plasma glucose less than 60 mg/dl. The clinical manifestations correspond to the adrenergic response (minor hypoglycemia), followed by neuroglycopenia (severe hypoglycemia). Hypoglycemia unawareness occurs in most of the patients with type 1 diabetes after > 5 years of diabetes duration, increasing the risk of severe hypoglycemia. Diagnosis of diabetic microvascular complications is based on annual microalbuminuria measurement and fundus examination in diabetic adolescents with at least 5 years of diabetes duration. Diabetes prediction in first-degree relatives of diabetic patients relies on the detection of multiple diabetes-associated autoantibodies. Rare forms of childhood non-autoimmune diabetes include neonatal diabetes, MODY (maturity-onset diabetes of the young), Wolfram syndrome, mitochondrial diabetes and type 2 diabetes….

Appendectomy is the first intestinal intervention in childhood; however, despite its frequency; the diagnosis of appendicitis or appendicular peritonitis remains sometimes difficult. The morbidity and even the mortality associated with this disease are not negligible. Most of the time, the diagnosis is based on clinical examination and simple blood tests (leukocytes count, C reactive protein), performed again if necessary. Ultrasounds and CT scan are undertaken in case of doubtful diagnosis. Once appendicitis is diagnosed, appendectomy remains the “gold standard”, associated with antibiotics depending on the severity of abdominal infection. Appendicitis, particularly perforated cases, may be complicated by parietal or intra abdominal abscess. Antibiotherapy and eventually percutaneous drainage are indicated in such cases.

In most cases, the diabetes found in children and adolescents is type 1 diabetes, an autoimmune disease. The treatment of diabetes aims at achieving glucose control, with levels as close to normal as possible, to reduce the risk of long-term complications. Subcutaneous insulin therapy is a cornerstone in the treatment of patients with type 1 diabetes; its regimen and dose must be individualized, depending on the concerned child. Diet is essential for achieving optimal metabolic control. The risk of long-term microvascular complications is related to the mean level of hemoglobin A_1C (HbA_1C). Therefore, the regular and frequent assessment of HbA_1C combined with the monitoring of blood glucose is critical in terms of individual management. Diabetic ketoacidosis (in newly diagnosed patients or due to insulin omission) and severe hypoglycemia are the two major acute complications in children with type 1 diabetes. Both are theoretically preventable.

The clinical manifestations of gastroesophageal reflux (GER) in infancy and childhood include vomiting dysphagia, abdominal pain and substernal pain, oesophagitis and respiratory disorders. Diagnostic approaches consist of history and physical examination, oesophageal pH monitoring, endoscopy, biopsy and sometimes an empiric medical therapy. Treatment options in infancy include prone position, diet change with milk thickening agents, and if necessary with a new formula without cow milk proteins. Lifestyle changes are recommended. In case of oesophagitis, acid suppressor therapy with proton pump inhibitors are used. Prokinetic therapy reduces the frequency of symptoms. Surgical therapy (fundoplication) generally results in favourable outcomes in case of prolonged medical therapy failure.

Chemoprophylaxis is essential for malaria prevention in travelers. When malaria is susceptible to chloroquine, this drug (Nivaquine^®) has to be used. In France, chloroquine is given daily (1.5 mg/kg/d), from departure to 4 weeks after return. In case of low chloroquine-resistance, French authorities recommend the use of chloroquine + proguanil (Savarine^® if the body weight is > 50 kg or Nivaquine^® + Paludrine^® if < 50 kg), or atovaquone + proguanil (Malarone^®). Nivaquine^® (1.5 mg / kg / d) and Paludrine^® (3 mg/kg/d) must be taken for up to one month after return, although Malarone^® (1 pediatric tablet/10 kg/d, in children > 10 kg weight) may be disrupted after one single week. Adverse events are more rare with atovaquone + proguanil, than with chloroquine + proguanil. When chloroquine-resistance is high, Malarone^® or mefloquine (Lariam^®) are used. Weekly drug regimen is recommended with mefloquine (5 mg/kg/w) for the travel duration and 3 weeks after return; drug tolerance is good in pediatric prophylaxis. The use of doxycycline is limited to some specific conditions of risk, in children of > 8 years of age. New agents such as tafenoquine, an amino-8 quinoleine, might enhance patient's compliance if given monthly.

Breast diseases in the paediatric population are sometimes nothing more than a physiological dysregulation, necessitating only close watch over. The three main anatomical parts of the breast are the areola and three nipple skin, the acinotubular gland and the conjunctival tissue. Each of them is on hormonal dependence and may be, at different times of the life, modified by different stimulation owing to a transient and benign disorder. Some other diseases, benign in most of the cases, may exist, and different diagnoses can be discussed, based on the patient's age, clinical, ultrasonographic, and progression data, and on epidemiological findings. The authors review the different clinical situations, underlining the fact that despite the rareness of malignant tumours, their existence is sometimes to be considered, with the related necessity of histopathological examination.

Glomerular diseases are characterized by histological lesions that affect mainly glomeruli. The classification is based on renal pathology data, including the lesions observed on light microscopy and the results of immunofluorescence and electron microscopy examination. The two main glomerular symptoms are proteinuria and hematuria. These symptoms may be associated with blood hypertension and/or renal insufficiency. The predominance of one of these symptoms and the progression pattern allow to describe different clinical patterns: an acute nephritic syndrome, a nephrotic syndrome, a syndrome with recurrent macroscopic hematuria, a syndrome of rapidly progressive glomerulonephritis and a syndrome of chronic glomerulonephritis. The famillial history, the presence of extra-renal symptoms, the results of immunologic tests and of the renal biopsy allow in most cases to identify a precise type of glomerular disease.

The genetic advice is a medical act which is based on the precise diagnosis of a genetic affection occurring in a family, and which evaluates the risk of recurrence in this family. It concerns parents of affected children, or parents who are aware of a risk for their descendents, due to the fact that themselves or any relatives are affected, or because they belong to a population at risk.