EMC - Pédiatrie最新文献

Retinoblastoma is a rare embryonic tumour in very early childhood. If diagnosed as soon as leucocoria and strabismus (the too frequently neglected first symptoms) appear in patients with a tumour limited to retina, the multidisciplinary team may successfully initiate conservative treatment. In developed countries, retinoblastoma has become a curable disease and in poorer regions, although severe extra-ocular cases remain very frequent, the prognosis has been dramatically improved by combined radiochemotherapeutic strategies. Nevertheless, in these countries, sequelae of previous treatment remain frequent: eye enucleation, radiation-induced facial deformities, uni or bilateral impaired vision, second cancer in hereditary cases. Conversely, as a result of the trend to apply new conservative approaches, the quality of life of cured children should be radically improved, even if treatment complications can occur, as well as genetic predisposition to second tumours in hereditary retinoblastomas. Owing to the currently well established indication of prenatal diagnosis in familial cases, and despite the limitations of genetic analysis, direct or indirect detection of allelic losses can be performed in an increasing number of familial cases, contributing to more suitable genetic information.

The human may be a host to three parasitic species of Trichocephalus (whipworms): most commonly, the Trichuris trichiura (Linné, 1771); (Stiles, 1901), more rarely the T. suis (Schrank, 1788) and in very rare cases the T. vulpis (Froelich, 1789).These intestinal nematodes belong to the Trichuridae family and to the Trichinelloidea (Trichuroidea) super family, which is characterized by the presence of a particular secretory organ called the stichosome, located in the peri-oesophageal area.

Congenital abnormalities of the thumb constitute more than 11% of all birth defects of the hand. The most common congenital abnormality is the syndactyly of the long finger, and the second is the duplication of the thumb. The thumb function is critical to hand function; it is estimated to represent approximately 40% of the function of the entire hand. The first step is to recognize and characterize the main congenital abnormality of the thumb, and to seek for a possible association with the complex syndromes. Secondarily, it may be important to evaluate the child's parents, and to explain the defect and the aims of physiotherapy and reconstructive surgery, because of the important psychological impact for the parents. Concerning the severe deformities, the final goal will be a compromise between the function (especially grasp and pinch) and the cosmetic aspect.

Iron overload in children is most often encountered in a context of chronic congenital anaemia requiring regular blood transfusions. Symptomatic organ disease related to hereditary haemochromatosis begins in the 4th or the 5th decade, except in the rare cases of juvenile phenotype. The use of parenteral desferrioxamine treatment that remains the standard regimen for iron chelation have resulted in a dramatic improvement in mortality and morbidity of patients suffering from major thalassaemia, the most frequent disease worldwide leading to severe transfusional iron overload. However, this therapy has 2 major limitations: its cost and the inability for some patients to cope with its cumbersome long-term use. Recent years have opened the era of orally active iron chelators.

Hypertrophic pyloric stenosis is a frequently encountered disease in neonates. Its aetiology remains unknown, but is probably multifactorial: genetic and environmental. Diagnosis is usually based on clinical presentation, with typical (non-bilious) vomiting. Confirmation of the diagnosis relies on ultrasonography. Surgical treatment takes place after correcting the fluid deficiency and electrolyte imbalance. Recovery without sequelae is usual.

Congenital anomalies of the stomach are equally varied and infrequent. They may be discovered either by prenatal ultrasound investigations, or later during adulthood for those moderately or not obstructive, and without inflammatory involvement. Gastric duplications are the least frequent of all duplications of the alimentary tract; pyloric atresia and its variants are usually symptomatic at birth as soon as feeding is initiated. Asymptomatic aberrant pancreatic islets are quite commonly found at laparotomy, but when next to the pylorus, they may cause obstructive symptoms. As for gastric diverticulae, some should not be considered as within limits of a pathological condition; they are anyway more frequently encountered in adults.

Trauma is the leading cause of both morbidity and mortality in the paediatric population. Early and aggressive management may improve survival and functional outcome. In children with multiple traumas, optimal care includes adequate initial assessment, aggressive resuscitation and conservative surgical management as often as possible. Acute respiratory failure is frequent in trauma paediatric patients and endotracheal intubation should be performed without delay. Haemorrhage is the leading cause of circulatory failure. Resuscitative fluids and vasoactive drugs, if needed, are given before possible surgical control of haemorrhage. Since severe head trauma is preponderant in this population, one of the major goals of initial critical care management is aimed at preventing secondary brain damage, especially hypoxia and hypotension. Improvement in diagnosis imaging represents a crucial advance in paediatric trauma care, with ultrasonography used as first line investigation, and CT scanning as the gold standard in stabilised and adequately monitored children. This effective management should decrease mortality and morbidity of severe trauma.