Search

“Serpentine-like syndrome” is a severe and rare association of multiple congenital malformations, characterised by brachioesophagus, secondary intrathoracic stomach, and vertebral anomalies. Other associated anomalies have been described, such as malposition and herniation of abdominal organs. We report the natural history of a baby girl born at 29 weeks of gestation with intra uterine growth restriction, short neck, large rachischisis from cervical to thoracic spine, a very short oesophagus, thoracic stomach associated with a midline diaphragmatic hernia, malrotated gut and median cleft lip. Most of these anomalies were detected antenatally. Molecular karyotype was normal. She died at age 12 days. To our knowledge, the present patient represents the 8th report of a case of “Serpentine-like syndrome”. Brachioesophagus and congenital vertebral anomalies, in particular rachischisis, are the cardinal features of this condition. All reported cases have been sporadic and the cause is still unknown. We believe that the specificity of the presentation as well as the similarities between available descriptions of patients suggests a common, yet to identify, molecular cause, possibly involving a developmental “toolkit”/homeobox gene or related pathways.

Vascular anomalies, which are broadly identified as "angiomas", are rare entities and often unknown by the medical sphere. They are divided in two different categories which carry different prognosis and management: "vascular tumors" and "vascular malformations". Their precise identification is crucial and involves a good knowledge of the biological classification published by Mulliken and Glowacki and that has recently been updated by the International Society for the Study of Vascular Anomalies (ISSVA). Vascular tumors are benign, common, inborn or not and most of the time disappear with growth. Vascular malformations are always congenital and growth with the child. They can involve type of vessels solely or combined with others. A rheologic differentiation between slow and fast flow malformations is essential in order to characterize the seriousness of the lesion. Frequently, their diagnosis is clinically established and the anamnesis is conducted to answer three questions that are the time of revelation of the lesion ("When?"), its aspect ("What?") and its evolution ("How?"). Further investigations are usually not required but a non-invasive imaging technique such as Doppler ultrasound could be useful if a doubt exists. Surgery is not mandatory and must always be well thought because its consequences might be disastrous. It must be left to cosmetic sequelae of these lesions or to lesions that are totally resectable without causing any unacceptable deformation.

The understanding of vascular anomalies (vascular tumours and vascular malformations) was obscured, for a long time, by confusion and uncertainties in nosology and terminology. The International Society for the Study of Vascular Anomalies (ISSVA) recently adopted a classification scheme, clearly separating vascular tumours (hemangiomas of different types) which result from active cell proliferation, from vascular malformations, which are inborn defects in vascular morphogenesis. These two types of lesions have different clinical behaviour and require different diagnostic and therapeutic strategies. The most frequent vascular tumour is infantile hemangioma. Its clinical aspects and evolution are well-known. New data have been recently obtained concerning the phenotype of tumour cells and its histogenesis. Of the numerous new vascular tumours, which have been recently described, only the congenital hemangiomas, the vascular tumours associated with the Maffucci syndrome and the tumours that may be complicated by a profound thrombocytopenia (Kasabach and Merritt phenomenon) will be considered. Vascular malformations can be classified according to the vessel(s) types they are composed of. A classification table is presented, separating the malformations of vascular trunks from tissular malformations which are more intimately embedded in the surrounding tissues. The different syndromes associated with vascular anomalies take also place in this table. The clinical, imaging and histological aspects of the most frequent malformations (capillary, venous, lymphatic and arteriovenous) are presented. This classification intend to clarify the nosology and terminology of the complex field of vascular tumours and malformation and to offer a common language to the different physicians and specialists contributing, preferably with a interdisciplinary approach, to the diagnosis and treatment of these difficult lesions.

A 15-months-old girl presented an excentration of the hip associated with a defect image of the acetabulum. Arthrography revealed a communication between the hip joint and the acetabular defect. Bacteriological specimens of the articular fluid were negative. The radiographic images were compatible with subacute osteomyelitis. Relative immobilization using an Atlanta abduction devise was undertaken. No medical treatment was prescribed for this adolescent who had received antibiotics for polymicrobial urinary tract infections and for pharyngitis prior to detection of the orthopedic disorder. Outcome was satisfactory with progressive filling of the acetabular defect but also with development of a subluxating coxa valga which required varus osteotomy of the femur. This case appears to illustrate a particular form of subacute osteomyelitis which is not described in earlier classifications.

Les malformations veineuses se caracterisent par des ectasies veineuses avec une deficience relative en muscle lisse. Elles sont souvent responsables de deformation, douleur, coagulopathie et saignement. Malgre des sclerotherapies recidivantes et des resections chirurgicales, les recidives sont frequentes. La rapamycine est un inhibiteur de mTor qui cible la cause des malformations veineuses, a savoir la voie de signalisation PI3K-AKT. Les resultats initiaux demontrent que cette nouvelle therapie diminue la douleur, les saignements et la coagulopathie, et ameliore la qualite de vie des patients. Une etude multicentrique europeenne de phase 3 (VASE) a ete mise en route en janvier 2016 pour objectiver les benefices et risques de cette pathologie et determiner quelles malformations sont les plus a meme de repondre positivement a cette medication. Actuellement, pres de 40 patients ont deja ete inclus avec des resultats toujours aussi satisfaisants au niveau de la symptomatologie meme si le volume de la malformation ne diminue pas beaucoup.

During the period from 1972 to 1992, 59 children received surgical treatment at the University of Louvain Medical School for biopsy-proven Hirschsprung's disease (HD). The extent of aganglionosis was as follows: short segment restricted to the rectosigmoid or descending colon (n = 44, 75%); long segment (n = 9,15%); ultra-short segment (n = 3, 5%); unknown length because of death without autopsy (n = 3, 5%). The median age at operation was 7 months for short-segment disease compared with 14 months for those with long-segment disease. Surgical procedures used for short-segment disease were Swenson with colostomy (n = 16), Swenson-Pellerin without colostomy (n = 27), Duhamel (n = 1), and for long-segment disease were Martin (n = 3), Swenson-Deloyers (n = 2), Swenson-Boley (n = 2) and ileostomy only in = 2). Lynn's sphincteromyotomy was performed in the three ultra-short cases. There were six deaths (10%) at a median age of 86 days (range, 28 to 1545 days), three had long-segment disease, and the others were not classified because of death before curative surgery. Enterocolitis (EC) was the most common cause of death (five cases) and was also the major source of morbidity after curative surgery (12 of 44, 27%) in short-segment patients, three of seven (43%) in long-segment patients. The functional success of the procedure was evaluated in 70% of the surviving patients (37 of 53; mean follow-up, 8.7 years; range, 1.2 to 21.5), using a novel semiquantitative scoring system, specifically designed for children who have HD. This system assesses normal stool evacuation, abdominal distention, soiling, and severe incontinence. The results were compared with those from a population of 39 healthy children and adolescents and demonstrated progressive improvement in function during childhood and adolescence (P = .04) for patients treated for short-segment disease. However, function was found to be consistently poorer in all age groups when compared with healthy controls (5 to 10 years, P.01; 10 to 15 years, P.05;15 years, P.01).

Two cases of gastroduodenal outlet obstruction caused by arteriomesenteric compression in children who have cerebral palsy are reported. Clinical symptoms of gastrointestinal obstruction include recurrent postprandial nausea and vomiting, upper abdominal distension, and pain. In such patients, multiple predisposing factors can contribute to the development of arteriomesenteric compression, including marked weight loss, supine position, and severe scoliosis. Upper gastrointestinal x-rays using barium contrast allow diagnostic confirmation. In our experience, this cause of acute gastroduodenal outlet obstruction may usually resolve after conservative treatment using a jejunal feeding tube passed beyond the compression, left lateral positioning, and renutrition.

Objectifs Proposer un mode de reconstruction multiplanaire permettant de visualiser, en un plan unique, corps vertebraux et elements articulaires posterieurs dans le but d’aider a la comprehension des scolioses congenitales en pre-operatoire. Materiels et methodes Quatre patients ages de 6 a 8 ans et presentant des malformations vertebrales scoliogenes cervicales, thoraciques et lombaires ont beneficie d’une mise au point par tomodensitometrie spiralee et de reconstructions multiplanaires coronales et sagittales. Nous leur avons applique une methode originale de reconstruction courbe, autour du canal vertebral. Resultats Une fois definies par les reconstructions multiplanaires sagittales et coronales classiques, les anomalies de formations (hemivertebres et wedges) et de segmentation (barres vertebrales), cellesci peuvent etre avantageusement presentees dans un plan unique planicylindrique, plus facile d’interpretation que le recours combines aux plans de reconstructions habituels. L’ensemble des malformations decrites par les reconstructions classiques sont retrouvees dans ce type de reconstruction. Conclusion Sans se substituer, sur un plan diagnostique, aux reconstructions multiplanaires classiques, la reconstruction planicylindrique a le merite de presenter a l’orthopediste un synoptique des malformations affectant les corps vertebraux et elements posterieurs en une seule image.