[Case of megadolichoureter due to an anomaly of the ureterovesical junction in 2 brothers]. / Observation de mégadolicho-uretère, par anomalie de la jonction uretérovésicale, chez deux frères.

Interest of family study. The first boy deceased after some hours of life. Necropsy. The second boy was clinically normal with severe bilateral vesico-ureteric reflux detected by IVU only. Surgical treatment. This boy is actually in good health.

[Genital hemorrhage in girls before puberty. Apropos of 33 cases]. / Les hémorragies génitales de la fille avant la puberté. A propos de trente-trois observations.

Vaginal bleeding in young girls without other signs of precocious sexual development is rare. We report a series of 33 cases observed during a 21 year period in the departments of pediatrics of the University of Lyon. Among the various etiologies, vaginal foreign bodies (10 cases, 30%) and vaginitis (10 cases, 30%) were the most frequent. There were 3 cases of benign vulvar tumors (9%) and 3 cases of malignant vaginal tumors (9%). In 3 cases the vaginal bleeding remained apparently idiopathic leading to the diagnosis of premature menarche. A retrospective evaluation of each case showed that history, physical examination and colposcopy would have rapidly established the correct diagnosis in 80 to 85% of cases; it is therefore concluded that laboratory and complex gynecologic investigations should be considered only after negative findings from these simple clinical tools in the evaluation of vaginal bleeding in prepubertal girls.

[Anomalous aortic origin of the left coronary artery. Apropos of sudden death in an adolescent]. / Origine aortique anormale de l'artère coronaire gauche. A propos de la mort subite d'un adolescent.

A 16 year-old adolescent boy died suddenly after an effort. Autopsy showed an anomalous origin of the left coronary artery from the right sinus of Valsalva. During the 3 years preceding his death, this patient presented symptoms that were apparently induced by physical efforts: digestive troubles, chest pain and syncopes. The latter resulted in the erroneous diagnoses of epilepsy, then hypervagotonia. The incidence of this kind of malformation, the mechanism of death and the necessary investigations are discussed. Thorough autopsy should always be performed in order to elucidate the cause of sudden death in young patients.

[Treatment of rickets caused by infantile cystinosis using 1 alpha-hydroxyvitamin D]. / Traitement du rachitisme de la cystinose infantile par la 1 alpha hydroxyvitamine D.

Two unrelated girls presented with cystinotic rickets: bone lesions were severe in the first case despite high vitamin D intake, and moderate but significant in the second patient who received physiologic vitamin D prophylaxis since early life. At 56 and 13 months respectively, both patients were given 1 alpha hydroxyvitamin D, 0.5 to 1 microgram/d, with good to excellent results. These data suggest that: 1. Cystinotic bone lesions are to some extent dependent on renal 1 alpha hydroxylase deficiency; 2. 1 alpha OHD thus appears as an effective and appropriate therapy.

[Hypercalciuria and hereditary fructose intolerance (author's transl)]. / Hypercalciurie et intolérance héréditaire au fructose.

Hereditary fructose intolerance includes a dysfunction of the proximal renal tubule, which disappears when fructose is excluded from the diet. A 46 month-old girl, fed with such a fructose-free diet since the age of 4 months, presented with a renal hypercalciuria. The significance of this disorder is discussed.

Urinary excretion of prostaglandins and electrolytes in developing children.

A longitudinal study of the urinary excretion of prostaglandins (PG's) E and Falpha was performed in 55 healthy children aged from 1 to 114 months. In addition, the urinary PG's and electrolytes were studied in 6 children with Bartter's syndrome before and after an oral treatment with indomethacin. In normal children, both urinary PGE and PGF alpha increased with age, more markedly before 24 months of age. During this period, a positive and significant correlation was found with the urinary osmolality (r = 0.61, N = 16, P less than 0.05 for PGE; r = 0.82, N = 16, P less than 0.001 for PGF alpha). At every age, the urinary PG's were related to the potassium excretion (r = 0.68, N = 55, P less than 0.001 for PGE; r = 0.65, N = 55, P less than 0.002 for PGFalpha) but not to the natriuresis. In children with Bartter's syndrome, the increased urinary excretion of PGE, PGFalpha and potassium when the natriuresis was either decreased or increased after treatment. These results suggest that the renal PG's might play a role in the control of potassium excretion by the kidney. In addition, the determination of normal values in different age groups appears necessary for an accurate interpretation of the urinary PG's.

[Metaphyseal osteolysis. Unusual aspect of reflex algodystrophy in children (author's transl)]. / Ostéolyse métaphysaire. Aspect inhabituel de l'aldogystrophie réflexe de l'enfant.

Two children 7 and 14 years old respectively, presented with reflex neurovascular dystrophy. The salient feature of the disease consisted of osteolytic lesions of distal tibial and fibulal metaphyses. To out knowledge these were not previously reported. Complete recovery spontaneously occurred in a few weeks or months. Thus they do not require any treatment, which might be harmful.

[Restoration of mixed and severe immunologic deficiency, by fetal liver and thymus graft]. / Reconstitution d'un déficit immunitaire mixte et grave, par greffe de foie et de thymus foetaux.

A male infant with severe combined immunodeficiency but normal adenosine deaminase activity for whom no suitable bone marrow donor was available was given two separate grafts of both hepatic and thymic cells, the cells for each graft being taken from the same fetus aged 13 and 10 weeks respectively. Cell mediated and partial humoral immunity was restored 330 and 400 days respectively after the second transplant. No graft-versus-host reaction was observed and both red blood cell and lymphoid chimaerism could be demonstrated. The child was kept in strict bacterial isolation from the 3rd to the 537th day of life. Thirty months after the graft, the infant is in good health but has a defect of neutrophil chemotaxis and phagocytosis which requires prophylactic benzathine penicillin in addition to gammaglobulins. Fetal tissue transplantation may provide an alternative treatment for patients with severe combined immunodeficiency who do not have a histocompatible donor.

Successful indomethacin treatment of two paediatric patients with severe tubulopathies. A boy with an unusual hypercalciuria and a girl with cystinosis.

Two children were followed for severe congenital tubulopathies: a boy presented an excessive sodium, calcium and water excretion; a girl had cystinosis and a De Toni-Debré-Fanconi syndrome. These renal defects were both associated with increased levels of plasma renin activity and aldosterone, and excessive urinary PGE1 production. They had been unresponsive to therapeutic attempts. Only indomethacin treatment was successful in reversing the biochemical abnormalities and improving the growth pattern.