Archives francaises de pediatrie最新文献

Background: Long-term follow-up of patients after total surgical correction of tetralogy of Fallot indicates that they have a smaller working capacity than controls, with an increased incidence of late onset complete heart block and sudden death. These abnormalities may be less frequent when surgery is undertaken at an early age.

Population and methods: A cardio-pulmonary stress test was performed on 18 patients aged 8 to 20 years who had undergone correction of tetralogy of Fallot when they were 3 months to 7 years (mean age: 3 years). The basic ventilatory tests, exercise ventilatory tests and gas exchange were also performed.

Results: The cardiopulmonary stress test was maximal in 16 of the 18 cases. No stress-induced PVCs, or chronotropic insufficiency was found despite a basic long PR interval in 4 cases. A restrictive ventilatory syndrome was seen in 4 cases with low respiratory reserve at exercise (defined as the ratio between maximal observed ventilation and maximal theoretical ventilation, VEMS x 40). The respiratory function was normal in 14 cases with an aerobic capacity of over 40 ml/kg/min.

Conclusion: Patients with a normal chronotropic function and preserved aerobic capacity show no post-operative restriction or cardiac of pulmonary exercise capacity.

Background: While germ cell tumors generally occur in the gonads, they may also appear at other sites, from the sacrococcygeum area to the central nervous system. This report describes a case of such a tumor in the posterior mediastinum that developed intraspinally in a dumb-bell fashion.

Case report: A 2 1/2 year-old girl was admitted for abdominal tenderness, gait disturbance and fever. Clinical examination showed spastic paraparesis and bladder dysfunction. Thoracic X-rays showed a left postero-superior mediastinal mass with rib erosion. MRI showed that this mass had developed intraspinally between the intervertebral foramina and caused spinal cord compression at T4, T5, T6. The tumor was not calcified. Surgical resection via laminectomy was performed in emergency, but the T5 root had to be excised. Pathologic examination showed histologic features of yolk sac carcinoma; the serum alpha-foetoprotein was elevated (12, 400 IU/ml). The patient was given chemotherapy for 6 months and is well 2 years later.

Conclusion: Germ cell tumors may appear in unusual sites. They can be identified by measuring biological markers, and this avoid primary surgery.

Background: Multiple carboxylase deficiency is a rare cause of progressive encephalopathy. There are 2 forms: the neonatal-onset form of holocarboxylase synthetase deficiency and the late-onset form of biotinidase deficiency. This report describes a case of biotinidase deficiency.

Case report: A boy began to have repeated convulsions at the age of 3 months. The brain CT-scan and MRI were normal and the patient was given valproic acid and carbamazepine. Progressive neurological degradation was noted from the 4th month of life and myoclonic seizures began 2 months later. At admission, the patient had seizures, myoclonic fits and hypotonia. He had a skin rash but no alopecia. Biochemical investigation showed lactic acidosis, mainly in the CSF, moderate hyperammonemia and hyperalaninemia. Chromatography of organic acids showed several abnormal peaks suggesting biotinidase deficiency. The patient was given biotin (20 mg/day) orally. This treatment produced a pronounced, rapid, clinical and biochemical improvement and antiepileptic drugs were discontinued. There was no developmental delay at the age of 18 months.

Conclusion: The clinical findings of neurologic abnormalities and dermatological signs led to the diagnosis of a metabolic disease that, fortunately, can be treated. This disease could benefit from a mass neonatal screening program.

Background: Idiopathic subglottic stenosis is a rare cause of acute respiratory distress, that is difficult to treat (corticosteroids, tracheotomy).

Case report: A nine-year-old boy presented with acute respiratory distress due to tracheal stenosis. The symptoms recurred after the endotracheal inflammatory membranes had been removed with forceps, despite 6-months of degressive corticotherapy. Absence of other causes of tracheal stenosis and biopsies led to diagnosis of idiopathic subglottic stenosis. The patient was treated by CO2 laser followed by degressive corticotherapy. The respiratory distress recurred within 3 months of discontinuing corticosteroids, requiring two further CO2 laser treatments. The patient became corticodependent.

Conclusions: CO2 laser is an effective, wise alternative treatment of acute respiratory distress due to idiopathic subglottic stenosis that can be repeated if necessary.

Background: Several forms of osteogenesis imperfecta have been described. The perinatally lethal forms (type II of Sillence) have been subclassified into groups A, B and C on the basis of radiological features. This report describes a case of type IIA.

Case report: A female Congolese baby was born at term to healthy, non-consanguineous parents. No ultrasonographic studies were done during the pregnancy. The newborn suffered from acute respiratory distress at birth. Clinical examination showed bone abnormalities: shortened and bowed limbs with crepitation at mobilization, soft calvaria and narrow rib cage. X-rays showed short, broad, bowed long bones with signs of fractures; the ribs were thin and beaded; wormian bones were seen in the skull. The newborn died from respiratory distress at the age of 5 hours. All clinical and X-rays investigations of the parents, the elder brother and cousins were normal.

Conclusion: This baby seems to have suffered from a lethal form of osteogenesis imperfecta, probably type IIA of Sillence.

Background: Robinow mesomelic dysplasia is an autosomal dominant or recessive condition that results is a flat facial profile, mesomelic shortening and frequent genital hypoplasia. This report describes a case with bilateral deafness.

Case report: A boy was born at term to consanguineous parents who have no morphological abnormalities. The child's older brother and sister are normal. The patient was admitted at the age of 5 months because of abnormal features: enlarged skull with prominent forehead, flat facial profile, hypertelorism, small chin, shortening in the mesomelic segments of the limbs and genital hypoplasia without cryptorchidism. X-rays confirmed the mesomelic shortening and showed radial head dislocation and vertebral abnormalities. These abnormalities were more evident at the age of 2 1/2 years, when a bilateral sensorineural hearing loss was detected.

Conclusion: This case of Robinow has all the characteristic findings plus deafness. The parental consanguinity suggests that its inheritance is autosomal recessive.