Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome.

We report the prenatal management of a brachytelephalangic chondrodysplasia punctata (CDPX1) case and how postnatal findings confirmed the diagnosis. The mother was initially referred after ultrasound revealed an abnormal fetal mid-face and punctuation of upper femoral epiphyses. Chondrodysplasia punctata (CP) with Binder anomaly was suspected. 3D-HCT revealed brachytelephalangy suggesting CDPX1. At birth, mid-face hypoplasia was marked. Postnatal imaging and genetic analysis confirmed the initial diagnosis. Binder anomaly is probably always associated with CP. The newly revised CP classification facilitates the diagnosis. The main etiologies are metabolic and chromosomal abnormalities, and arylsulfatase E enzyme dysfunction. Thus, screening for arylsulfatase E mutation is mandatory for an accurate diagnosis and can lead to better delineation among CP etiologies associated with a Binder phenotype.

Outcome of treatment of upper third vaginal recurrences of cervical and endometrial carcinomas with interstitial brachytherapy.

PURPOSE: To describe an original brachytherapy technique using a dedicated intravaginal template for the treatment of vaginal vault recurrences and to evaluate the results of such a treatment. METHODS AND MATERIALS: Between 1978 and 1993, 78 patients with isolated recurrence of cervical or endometrial carcinoma located in the vaginal vault have been treated in Lyon. Initial treatment was surgery alone in 49 cases and irradiation with surgery in 37 cases. Treatment of the vaginal recurrence was performed with interstitial Iridium 192 brachytherapy combined with pelvic external beam radiation therapy in 34 patients. The tumor was implanted with a dedicated intravaginal plastic template. Six parallel metallic needles were implanted in the vaginal vault and afterloaded with Iridium 192 wires of 4 to 6 cm long. The mucosa of the upper half of the vagina received the same dose as the one encompassing the tumor on the 85% isodose of the Paris system. RESULTS: At 5 years the local control rate was 70% and the overall survival rate 56%. Grade 3 complications occurred in 10% of the cases and only in patients who had received irradiation during the initial treatment of the primary tumor. CONCLUSIONS: This brachytherapy technique makes it possible to perform Iridium 192 implants in a difficult situation with a favorable long-term control rate and an acceptable rate of complications.

Once daily antibiotic regimen in paediatric oncology.

The feasibility and efficacy of a once daily antibiotic regimen were assessed in children with malignant tumours. Over a 44 month period, 296 febrile episodes were treated with a regimen of once daily ceftriaxone-amikacin (and teicoplanin or vancomycin if the patient had a central line). The treatment was successful in 272 (92%) episodes without modification of the antibiotic regimen, and only one patient died of uncontrolled sepsis. A once daily antibiotic regimen is therefore feasible and worthwhile in the treatment of febrile episodes in children with cancer.

[Constitutional translocation t(1;6) and Burkitt's lymphoma]. / Translocation constitutionnelle t(1;6) et lymphome de Burkitt.

BACKGROUND: The relationship between constitutional chromosome aberrations and a predisposition to malignancy has already been established. CASE REPORT: A 4 year-old boy was admitted suffering from abdominal mass. Biopsies of the tumor and bone marrow showed a stage IV Burkitt's lymphoma. Karyotype showed a constitutional t(1;6)(p36;q22) in initial bone marrow samples and peripheral lymphocytes. No classic Burkitt's type translocation was demonstrated in the malignant bone marrow cells. CONCLUSION: Our case is similar to four other reported cases. The break-points 1p36 and 6q22 seem to be involved in several malignant tumors, especially lymphomas.