EMC - Pédiatrie最新文献

Galactose is present in the disaccharide lactose, main carbohydrate in milk. Three inborn errors of galactose metabolism are known. Galactokinase deficiency results in isolated nuclear cataract. Galactosemia is usaually due to galactose-1-phosphate uridyl transferase deficiency. This disease provokes hepatic, renal or ocular symptoms that improve with galactose free diet. Long-term prognosis is linked to its neurological consequences. UDP-galactose 4ʼ-epimerase deficiency is very rare and provokes either benign partial forms, or very rare profound deficiency giving severe forms of galactosemia. Fructose is a widely found hexose in human diet. Three inborn errors of metabolism may affect fructose metabolism. Fructokinase deficiency is an asymptomatic abnormality. Hereditary fructose intolerance, due to fructose aldolase deficiency provokes either acute gastrointestinal symptoms, with or without hypoglycemia, or hepatic or renal expressions that may be life threatening if a fructose free diet is not begun early. Fructose-1,6-diphosphatase deficiency is an inborn error affecting neoglucogenesis resulting in hypoglycemias with hyperlactacidemia.

Fetal/neonatal alloimmune thrombocytopenia (FNAIT) results from maternal alloimmunisation against fetal platelet antigens. It is considered as the platelet counterpart of the hemolytic disease of the newborn (HDN). In contrast to HDN, FNAIT can affect the first child. The frequency of this affection has been estimated to be 1 out of 800-1000 live births. Although it is a transient passive disease, the major complication is the occurrence of intracranial hemorrhage leading to death in up to 10-15 % of reported cases or neurological sequelae in up to 20-25 % of cases. Progress have been done in platelet immunology and clinical management, however there are still questions concerning the optimal management to be proposed for high risk pregnancy and implementation of routine antenatal screening.

Cutaneous diseases due to dermatophytes are common, usually superficial and not severe in most patients. Epidemiological data are in permanent evolution, especially for tinea capitis, in which causal agents have change a lot during the XX^th century. We describe classical presentations, the most frequent and other atypical forms, especially deep and extensive localizations in immuno-compromised patients. Laboratory testing allows the identification of causative agent, owing to improved sampling procedures. Within the last fifteen years, new topical and general therapeutic agents have been marketed, resulting in significantly improved treatment benefits.

Orthopaedic diseases are disorders currently encountered by paediatricians: the necessity of early diagnosis and rapid therapeutic management by an orthopaedist are well established now. Some of these orthopaedic disorders are evident at birth, but some others remain non-evident and even hidden, which underlines the importance of a screening by complete orthopaedic examination. However, only a single examination at birth may be insufficient, and the necessity of repeated clinical examinations during the whole first year of life and up to the age of walking should be emphasized. Progressively, the orthopaedic emergency in the newborn has become a current concept due to the associated risk of severe impairment or complete loss of a musculo-skeletal function. Two distinct situations are identified: 1) the presence of a limb disability attributable either to an obstetrical trauma (bony or nervous) when observed at birth, or to an osteoarticular infection when delayed, or to a iatrogenic palsy; 2) the finding of a congenital malformation which must be distinguished from a congenital deformity since both the prognosis and the treatment are completely different. Indeed, real malformations occur during the embryonic period due to an organogenetic disorder, and since their treatment is not urgent and only palliative, it is delayed most of the time. On the contrary, congenital deformities occur during the foetal life due to the alteration of the shape and structure of an organ free of any malformation. They are sometimes secondary to a congenital neuromuscular affection (myelomeningocele, arthrogryposis, myopathy…), but most of the time the intrauterine positional aetiological factor is preponderant (hip dislocation, genu recurvatum, foot deformation). They are extremely frequent and urgent treatment is mandatory since most of them are reversible by adequate therapy, either partially or totally.

Bone age represents only one factor of the child development and needs to be included in the whole physical and biological context. Short statures are more frequent than gigantism. Presently, the diagnostic strategy for a short stature is partially based on imaging analysis: cerebral imaging can disclose a tumour in case of Gh deficiency (mainly craniopharyngioma) or median line and/or pituitary malformations; skeletal imaging seeks for abnormalities that may suggest bone dysplasia. The main indications of bone age evaluation are a discrepancy between civil age and stature, and less frequently the follow-up of chronic diseases. The bone age is routinely estimated from an X-ray of the left wrist and hand in case of growth abnormality over one year of age (Greulich and Pyle method).

Acute intestinal intussusception (AII) in infants and children is defined by the invagination of a portion of the intestine into itself. The consequence is an intestinal obstruction with venous compression and oedema leading to intestinal necrosis. AII constitutes therefore an emergency case. There are 2 kinds of AII: the idiopathic AII in infants that represents 90 to 95% of the cases; the AII that is secondary to a localized lesion (Meckel’s diverticulum, polyp…) or occurring in a digestive disease (Henoch-Schönlein purpura, cystic fibrosis…) or in special circumstances (postoperative AII). Abdominal ultrasound is the key imaging procedure that allows diagnosing AII in infants with acute abdominal pain and vomiting. Non operative reduction by pneumatic or hydrostatic techniques is the first-line treatment, if there is no contra-indication, with a success rate observed to be 80 to 90%. Surgical treatment is a secondary procedure performed in case of failure of non operative reduction or in specific circumstances. The prognosis of AII is excellent, conditioned by a close collaboration between paediatricians, surgeons, radiologists and anaesthesiologists.

Immunizations have dramatically decreased several severe infectious diseases in the countries where they are widely distributed. Immunizations constitute a real paradox since never have so many people, children but also adults, benefited from vaccination, and yet many persons in the world do not receive the recommended vaccines, leading to unnecessary burden of diseases. General conditions of vaccine efficacy are described, as well as the conditions of a good management. French immunization schedule is presented, focusing for each antigen the nature, recommendations, adverse events and contra-indications, efficacy and epidemiological impact. A short overview on the achievements and current problems at global level completes the presentation.

At present, cardiopathies may be diagnosed in utero. Such heart diseases significantly modify the heart architecture and represent about half of all cardiopathies. The therapeutic management of neonatal cardiac emergencies has greatly improved these last 15 years: above all, by the generalisation of E₁ prostaglandin use for ductus-dependent cardiopathies, then by the development of interventional catheterisation, and finally by generalising the antenatal diagnosis of congenital cardiopathies, which subsequently allows adequate perinatal therapeutic management. The present article aims at explaining, on the basis of the physiology of foetal circulation, the risk of development or aggravation of some congenital cardiopathies. It presents also the therapeutic management that is to be considered with respect to congenital cardiopathies diagnosed in utero.