A not so harmless mass: Kaposiform hemangioendothelioma complicated by a Kasabach-Merritt phenomenon.

A vascular mass localized in the face and the neck was displayed by ultrasonography in a 38-week-old male fetus. At birth, the mass was bulky and purplish. The newborn breathed spontaneously but with severe desaturation. During laryngoscopy, we observed an obstruction of the larynx with a left-shift caused by the hemorrhagic mass. Blood analysis revealed anemia, severe thrombocytopenia, and coagulation disorders. The diagnosis of kaposiform hemangioendothelioma (KHE) complicated by a Kasabach-Merritt phenomenon (KMP) was put forward and treatment with propranolol, corticoids, and vincristine was initiated. Platelets were transfused daily for 8 days but did not resolve the thrombocytopenia. At day 8, we added sirolimus to the treatment and noted a rapid response with the normalization of the platelet count within 1 week and a significant regression of the mass. In this paper, we review the clinical and biological features of hemangioendothelioma associated with KMP and discuss its current and future treatment. Sirolimus seems to be very promising.

[A traumatic cervical spine injury in children?] / Comment j'explore Un traumatisme du rachis cervical chez l'enfant.

Cervical spine injuries are a regular reason for consultation in general practice or pediatric emergencies. In many cases, it is difficult to distinguish between whether or not a radiological assessment is necessary. We propose in this article a management strategy based on clinical scores simple to achieve in order to avoid unnecessary radiological examinations for children.

Les traumatismes du rachis cervical sont un motif régulier de consultation en médecine générale ou aux urgences pédiatriques. Bien souvent, il est difficile de faire la part des choses pour savoir si un bilan radiologique est ou non nécessaire. Nous proposons, dans cet article, une prise en charge basée sur des scores cliniques simples à réaliser, permettant d'éviter ainsi des examens radiologiques inutiles pour les enfants.

[Meckel's diverticulum : state of the art]. / Diverticule de Meckel : mise au point.

The persistence of the embryonic vitelline duct can lead to omphalomesenteric duct anomalies. A wide variety of anomalies, depending on the remnant segment and its degree of involution, may occur as a result of the omphalomesenteric duct failing to obliterate completely. The most frequent omphalomesenteric duct anomaly is Meckel's diverticulum, which is present in approximately 2-3 % of the population. Despite the progress in medical imaging, conventional abdominal computed tomography and endoscopy have limitations for the diagnosis of Meckel's diverticulum. The laparoscopic exploratory remains the best choice for diagnosis and treatment.

: Les pathologies du canal omphalo-mésentérique résultent d'anomalies de régression du canal vitellin ou omphalo-mésentérique. Elles sont responsables de problèmes variables, selon le degré d'involution et le segment du canal intéressé. Elles sont, pour la plupart, rarissimes, excepté le diverticule de Meckel qui s'observe dans 2 à 3 % de la population. La mise au point du diverticule de Meckel peut être réalisée par des méthodes iconographiques et fonctionnelles. Cependant, malgré les progrès de l'imagerie, son identification n'est pas toujours aisée laissant ainsi une place de choix à la coelioscopie exploratrice tant d'un point de vue diagnostique que thérapeutique.

[A new treatment for vascular anomalies: Six cases treated with rapamycin]. / Une nouvelle approche thérapeutique des malformations vasculaires à faible débit : la rapamycine ­ à propos de 6 cas.

Vascular anomalies (VAs) result from the defective development of the embryonic vascular system and feature dysplastic malformed vessels, which are not always apparent at birth. They do not regress over the patient's lifetime; they usually have commensurate growth during childhood and may worsen over time if not treated. VAs may cause chronic painful swelling, bleeding, functional deficits or vital structure obstruction. These patients' quality of life is usually impaired because of the chronicity and recurrence of the disease. We report on six cases of complicated VAs, refractory to current treatments, treated with rapamycin, an mTor inhibitor recently used in VAs.

[Borrelia-associated lymphocytoma cutis]. / Le lymphocytome borrélien du lobe de l'oreille.

We describe a 6-year-old boy who developed Borrelia burgdorferi-associated lymphocytoma cutis on the ear. Lymphocytoma is a benign polyclonal B-cell lymphoproliferative process; it is defined as a subacute manifestation of early disseminated borrelial infection. Clinical history, physical examination, and serodiagnosis tests are often sufficient to establish diagnosis, but sometimes, histopathologic analysis is needed to exclude malignant cutaneous lymphomas. The outcome is always favorable but after antibiotic therapy, the lesion disappears promptly.

[Renal tumors in children. A single center study of 31 cases]. / Les tumeurs rénales de l'enfant. Une etude monocentrique: a propos de 31 cas.

In order to illustrate epidemiologic features and survival rate, 31 Wilm's tumours treated in our institution have been retrospectively studied. The mean age at diagnosis in our series was surprisingly higher than usually described: 25% of the patients were older than 8 years. Moreover, a mesoblastic nephroma congenital kidney tumour--appeared in a 10 month old girl. Symptoms were usually abdominal mass or gross hematuria. Young children are often brought to medical attention because of abdominal swelling: a large flank mass was palpable in all children under 5 years. Our study shows that preoperative chemotherapy results in a less intensive treatment regimen conducting probably to less sequellae. Event free survival and overall survival were respectively 87% and 94% at 10 years after diagnosis. Renal insufficiency was the most important side effect: 2 children required renal transplantation.

[Clinical evaluation of 23 children with neuroblastoma. The experience of a single institution]. / Les neuroblastomes de l'enfant. A propos de 23 cas.

In this retrospective study, we analyse epidemiology, clinical symptoms and therapeutic results in a group of 23 children with neuroblastoma. Half of them were less than 2 years of age; in 19 of 23, the primitive tumour was abdominal; 35% of them were initially metastatic. The overall survival was 83% at 5 years and the event free survival, 75% at 5 years. Pronostic factors are age, extension of the disease at diagnosis, biologic parameters and genetic study of the neuroblast cells (amplification of N-myc oncogen). Our study shows the deleterious effect of bone lesions.

[Retrospective study of childhood lymphomas. Report of 27 children treated at a single institution]. / Etude rétrospective des lymphomes de l'enfant. A propos de 27 cas traités dans une même institution.

Childhood lymphomas represent a heterogeneous group of disorders that are quite different from adult lymphomas. Over the past three decades, empirical chemotherapeutic management has transformed survival figures, and more recently greater understanding of the biology is offering hope for improved management of resistant disease. We present here the experience of a single institution in the management of 27 childhood lymphomas; epidemiological and clinical characteristics are described as well as survival rates. The median follow up of the patients is 4 years 7 months. The five-year overall survival for the entire group is more than 95 %; the 5-year disease free survival is 91,6 % for Hodgkin's lymphomas, 92,8% for non Hodgkin's lymphomas and 100% for Burkitt diseases. Two relapses have occurred and all of them appeared within the 18 months of the diagnosis. No toxic death has been reported.

Cardiac anomalies associated with congenital absence of the portal vein.

The authors discovered congenital absence of the portal vein, with visceral venous return to the right atrium, in a 5-year-old girl with aortic valvar stenosis. Interestingly, of the 19 patients, it was discovered that 11 reported with portal venous agenesis also had cardiac defects. We have, therefore, investigated the hypothesis that the congenital absence of the portal vein and the associated cardiac malformations may result from a similar embryologic insult, and that cardiac development may be affected by the systemic diversion of portal venous flow.

A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.

We report two patients, born of consanguineous parents, affected by a disorder resulting in mild growth retardation. Hallmarks are amelogenesis imperfecta (absence of the enamel cap) associated with brachyolmia-like anomalies: platyspondyly with short pedicles, narrow intervertebral and interpedicular distances, rectangular-shaped vertebrae with posterior scalloping and herniation of the nuclei, and broad femoral necks. Inheritance appears to be autosomal recessive.

Heterogeneity of SPONASTRIME dysplasia: delineation of a variant form with severe mental retardation.

We report a child with short stature, osteopenia with metaphyseal striations and severe mental retardation. This child shows radiological and clinical features of SPONASTRIME dysplasia. Only three sibships with this disorder have been reported. In two families, affected patients were of normal intelligence. In the third one, as well as our case, the dysplasia was complicated by severe mental retardation of unknown origin. The severity of the retardation in our case and a previous report, and some difference in the gestalt and radiological aspects, suggest that SPONASTRIME dysplasia is a heterogeneous disorder. We provisionally propose to split SPONASTRIME dysplasia in two phenotypically distinct subgroups, and to delineate here a 'new' variant with microcephaly and severe mental impairment.