Cerebral germinoma revealed through a polydipsic polyuric syndrome in a 10-year-old girl: case report.

Cerebral germinoma is rare. Although the imaging of the germinoma is very evocative, it's very polymorphic clinical expression is at the origin of misguided diagnosis, as illustrated in our case. We report the case of a 10-year-old girl with diabetes insipidus evolving for 12 months associated with a decrease in visual acuity. Brain MRI (Magnetic Resonance Imaging) revealed a tumor process in the suprasellar region. The stereotaxic biopsy of the tumor confirmed the diagnosis of the hypothalamic germinoma, which allowed the patient to be treated by radiotherapy and chemotherapy. The incidence of cerebral germinoma, its clinical (principally diabetes insipidus) and radiological features as well as therapeutic strategies are discussed hereby.

[Management of vascular anomalies in children]. / Prise en charge des anomalies vasculaires chez l'enfant.

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.

[Vascular tumours and malformations, classification, pathology and imaging]. / Tumeurs et malformations vasculaires, classification anatomopathologique et imagerie.

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.

The paediatric liver transplantation program at the Université catholique de Louvain.

The Paediatric Liver Transplant Program at Saint-Luc University Clinics constitutes a substantial single centre experience, including 667 transplantations performed between March 1984 and April 2003, and the history of this program reflects the tremendous progress in this field since twenty years. Liver transplantation in children constitutes a considerable undertaking and its results depend on multiple, intermingled risk factors. An analysis of the respective impact of several surgical and immunological parameters on patient/graft outcome and allograft rejection after paediatric liver transplantation showed a significant learning curve effect as well as the respective impact of pre-transplant diagnosis on survival and of primary immunosuppression on the rejection incidence. The introduction of living related liver transplantation in 1993 not only permitted to provide access to liver replacement in as many as 74% more candidate recipients, but also resulted in better graft survival and reduced retransplantation rate. The results of a recent pilot study suggest that steroid avoidance is not harmful, and could even be beneficial for paediatric liver recipients, particularly regarding growth, and that combining tacrolimus with basiliximab (anti-CD25 chimeric monoclonal antibody) for steroid substitution appears to constitute a safe alternative in this context. The long-term issues represent the main future challenges in the field, including the possibility of a full rehabilitation through immunosuppression withdrawal and tolerance induction, the development of adolescence transplant medicine, and the risk of early atherogenesis in the adulthood.

[Subacute osteomyelitis of the acetabulum]. / Ostéomyélite subaiguë de l'acétabulum.

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.

Unusual evolution of an Epstein-Barr virus-associated leiomyosarcoma occurring after liver transplantation.

We report the case of a child who developed, 2 yr after orthotopic liver transplantation (OLTx) for biliary atresia, a multi-focal hepatic tumor with lymphonodular metastases, identified as an Epstein-Barr virus (EBV)-associated leiomyosarcoma. Chemotherapy was given without tumor response. Subsequently, slow growth of the tumor was observed. Immunosuppression was tapered and stopped 9 yr after transplantation. At the present time, 12 yr after the discovery of the first hepatic lesions, the patient is alive and completely symptom-free, the abdominal masses are stable, and liver function tests are completely normal. Smooth muscle tumors are increasingly recognized in children with various immunodeficiencies occurring after organ transplantation. This unusual evolution of a clinically aggressive tumor into a stable disease after restoration of immunity confirms that the immune status of the patient is a crucial factor.

Lymphatic malformations of the head and neck: a retrospective review and a support for staging.

BACKGROUND: Lymphatic malformations (LM) are rare benign congenital tumors appearing mainly in the head and neck with a considerably variable outcome. A need exists to validate a staging system, taking into account the prognosis of the malformation, including preoperative and postoperative complications, long-term sequelae, and persistence of the disease to improve parental counseling and evaluate the outcome of a surgical treatment of such tumors. METHODS: Twenty-two patients treated for LM were selected from a series of 129 patients operated on for congenital malformations of the head and neck between 1986 and 1997 at St-Luc University Hospital, Brussels, Belgium. Their charts were reviewed retrospectively, with a special focus on the anatomic location of the lesions and all the complications reported. According to de Serres et al, LM up to now have been divided into six possible categories according to their unilateral or bilateral infrahyoid and/or suprahyoid locations. RESULTS: Stage I (unilateral infrahyoid): nine patients, 11% of complications (without mediastinal extension: 0%, with mediastinal extension: 50%); stage II (unilateral suprahyoid): three patients, 33% of complications; stage III (unilateral suprahyoid and infrahyoid): eight patients, 75% of complications; stage V (bilateral suprahyoid and infrahyoid): two patients, 100% of complications. None of the children was initially seen with stage IV (bilateral suprahyoid) or stage VI (bilateral infrahyoid) LM. Overall complications, preoperative complications, postoperative com- plications, and long-term morbidity showed a significant in- crease from stage I to V (p <.01, p =.002, p =.02, and p =.03, respectively). CONCLUSIONS: A staging system of cervicofacial LM based on the anatomic location can be reliably used for prognostic purposes, allowing a more accurate assessment of the global risk of complications and determination of surgical outcome. Mediastinal extension in stage I patients seems to be associated with a higher rate of complications. Such information can be used to inform parents more appropriately regarding the management and long-term prognosis of their children's malformation.

Living-related liver transplantation in children at Saint-Luc University Clinics: a seven year experience in 77 recipients.

The Brussels series of living related liver transplantation (LRLT) in 77 children (< 15 years) is reviewed. Median (range) recipient age at liver transplantation was 1.1 year (0.4-13.1). The main indication for LT was biliary atresia in 55/77 cases (71%). The living-related donor was one of the parents in 74 instances. Hepatic segments 2-3 (n = 67) or 2-3-4 (n = 10) were implanted orthotopically, with a median (range) graft weight to recipient body weight ratio of 3.17% (0.91-8.08). No severe complications or significant long-term sequelae were encountered in the living donors. One and five year survival rates were 92% and 89% for the patients, and 90% and 86% for the grafts, respectively. The retransplantation rate was 2/77 (2.6%), the indication being chronic rejection in both instances. In conclusion, LRLT is now a validated procedure in the living donors as well as in pediatric recipients with chronic or acute liver diseases. In the current context of organ shortage, it provides a valuable alternative to cadaveric LT.

[Diagnosis and follow-up of a large intrahepatic portocaval fistula in a newborn]. / Diagnostic et suivi d'une large fistule porto-cave intrahépatique chez un nouveau-né.

Portocaval fistulas are rare and only exceptionally discovered in newborns. We report the case of a large portocaval fistula associated with portal hypoperfusion detected at Doppler US imaging in an otherwise asymptomatic 5 week old infant. The patient remained asymptomatic over the following two years. At that time, preoperative angiogram showed a normal portal venous system and the fistula was surgically closed. Postoperative US showed a normal and patent portal system, without evidence of portal hypertension.

[Choanal atresia: a retrospective study of 39 cases]. / Les atrésies choanales: à propos d'une série rétrospective de 39 cas.

The purpose of this study was to investigate the clinical characteristics and the surgical management in patients with choanal atresia. We performed a retrospective study at the Saint-Luc University hospital, Brussels, between January 1988 and June 2000. Surgical corrections were performed using different approach (transnasal endoscopic, transpalatal) and different instrumentations (urethral sounds, laser nd-YAG, laser CO2, microdebrider). Portex endotracheal tubes were inserted as nasal stents in the vast majority of the patients with bilateral choanal atresia. Thirty-nine children with choanal atresia (22 unilateral and 17 bilateral) (9: M, 30: F) were studied. 38 of them were surgically managed. Based on clinical inspection and On CT-Scan, choanal atresia was defined as membranous for 4 patients, osseous for 6 and mixte for 29. Associated congenital anomalies were found in 22.7% of unilateral and in 70.5% of bilateral choanal atresia (Total: 43.5%). Of those children with bilateral choanal atresia, 75% were asymptomatic after four surgical procedures. In children with unilateral choanal atresia, 45% were asymptomatic after one surgical correction and 100% after three surgical corrections. Four patients were managed using an endoscopic endonasal approach with the microdebrider and showed no evidence of recurrence. Outcome analyses of factors that may influence the results of surgery are difficult to establish since many different surgical options were taken during this period. However, it seems that bilateral choanal atresia is associated with more surgical corrections before achieving a normal nasal breathing than unilateral choanal atresia. After this review, our current strategy regarding the choanal atresia will be to begin with the endoscopic endonasal approach using the microdebrider (stents if bilateral) and to propose the transpalatal approach in case of recurrence.

Spinal neurenteric cyst presenting in infancy with chronic fever and acute myelopathy.

The authors describe the clinical, radiologic, and pathologic features of a neonatal spinal neurenteric cyst (NC) presenting with long-lasting fever and acute myelopathy, and compare this observation with other infants reported in the literature. This observation shows that NC must be considered in the differential diagnosis of acute myelopathy with persistent fever in infancy. Fever is attributed to degenerative changes in the NC, triggering inflammatory cell infiltration and tumor necrosis factor alpha secretion.

Treatment of extrahepatic portal hypertension in children by mesenteric-to-left portal vein bypass: a new physiological procedure.

OBJECTIVE: To achieve hepatic portal revascularisation and decompression of extrahepatic portal hypertension in children with cavernoma and obstruction caused by idiopathic portal vein thrombosis. DESIGN: Selected cases. SETTING: Teaching hospitals. Belgium and Italy. SUBJECTS: 11 children who weighed between 5.9 and 54 kg (2 emergencies) with symptomatic extrahepatic portal hypertension. INTERVENTION: Interposition of venous autograft between the superior mesenteric vein and the distal (umbilical) portion of the left portal vein. MAIN OUTCOME MEASURES: Improvements in symptoms and endoscopic appearance after operation. RESULTS: 2 bypasses had to be redone because they stenosed; all 11 were patent at the time of writing (median follow-up 6 months, range 1-32 months). CONCLUSION: The bypass effectively relieved symptoms of extrahepatic portal hypertension by restoring normal hepatic portal blood flow.

Urachal neuroblastoma: first case report.

Tumours of the urachus are exceptional in children. They represent 0.01% of all tumours and consist of mucosecretory adenocarcinoma and, more rarely, transitional cell carcinoma. We report a 6-month-old child with a urachal mass which, following biopsy, was shown to be a neuroblastoma.

Cricopharyngeal achalasia: case reports and review of the literature.

Primary cricopharyngeal achalasia (a = absence, chalasia = relaxation) is a rare cause of swallowing disorders in newborns. Two cases are reported which were successfully treated by a myotomy of the cricopharyngeal muscle. A thorough history is essential in differential diagnosis as well as observation of the feeding infant. Presence of anatomical obstruction to swallowing and existence of neurological defects should be ruled out. Cineradiography with lateral views by an experienced radiologist is the best diagnostic technique. Esophageal manometry may provide information regarding other esophageal dyskinetic problems. However, these studies are difficult to perform in neonates and infants. Endoscopy may be helpful to exclude vocal cord paralysis or mechanical obstruction. Balloon dilatation has been reported as being successful in several reports; however no comparison of efficacy has been made in any series between dilatation of the upper esophagus and surgical myotomy which remains in our mind, the optimal treatment of cricopharyngeal achalasia.

Congenital fistula of the fourth branchial pouch.

Between 1986 and 1995, 128 patients were treated for various head and neck congenital malformations at Saint-Luc University Hospital, Louvain. We report three cases of fourth branchial pouch cysts requiring surgical removal. One of these cases presented with a third branchial pouch remnant on the same side and subsequently a fourth branchial pouch sinus. To our knowledge, this is the first case published in the literature. A fourth branchial pouch sinus tract can become manifest clinically by recurrent episodes of neck abscess or acute suppurative thyroiditis (especially in infants). The tract can be identified with a barium swallow during the period of latency and hypopharyngeal endoscopy under general anesthesia. Total excision of the fistula with dissection up to the pyriform sinus with or without a left thyroid gland lobectomy and isthmectomy is the treatment of choice.

Urodynamic and electrophysiological testing in pediatric neurourology.

In our institution, children with voiding disorders are submitted to a detailed evaluation comprising a careful clinical examination, laboratory tests, imaging (kidney ultrasonography and voiding cystourethrography) and urodynamic tests. Depending on the etiology of voiding dysfunction, children are subjected to a non invasive or an invasive urodynamic evaluation. Non invasive urodynamic testing comprises a free urinary flowmetry associated or not with an EMG recording of the pelvic floor. Invasive urodynamic testing consists of a pressure-flow study or a video-XR-urodynamic test. In rare instances, genitourinary electrophysiological investigations will be performed. Herein we describe these different urodynamic and electrophysiologic tests.

Pediatric liver transplantation: from the full-size liver graft to reduced, split, and living related liver transplantation.

Between 1984 and 1996, the authors performed 499 liver transplants in 416 children less than 15 years old. The overall patient survival at 10 years was 76.5%. It was 71.3% for the 209 children grafted in 1984-1990; 78.5% for biliary atresia (n = 286), 87.3% for metabolic diseases (n = 59), and 72.7% for acute liver failure (n = 22). The 5-year survival was 73.6% for the 209 children grafted in 1984-1990 and 85% for the 206 grafted in 1991-1996. Scarcity of size-matched donors led to the development of innovative techniques: 174 children who electively received a reduced liver as a first graft in our center had a 5-year survival of 76% while 168 who received a full-size graft had a survival of 85% (NS). Results of the European Split Liver Registry showed 6-month graft survival similar to results obtained with full-size grafts collected by the European Liver Transplant Registry. Extensive use of these techniques allowed the mortality while waiting to be reduced from 16.5% in 1984-1990 to 10% in 1991-1992. It rose again to 17% in 1993, leading the authors to develop a program of living related liver transplantation (LRLT). The legal and ethical aspects are analyzed. Between July 1993 and October 1997, the authors performed 53 LRLTs with 90% survival. In elective cases, a detailed analysis was made of the 45 children listed for LRLT between July 1993 and March 1997 and the 79 registered on the cadaveric waiting list during the same period. Mortality while waiting was 2% and 14.5% for the LRLT and cadaveric lists, respectively. The retransplantation rate was 4.6% and 16.1% for LRLT and cadaveric transplants, respectively. Overall post-transplant survival was 88% and 82% for children who received a LRLT or a cadaveric graft, respectively. Overall survival from the date of registration was 86% and 70% (P < 0.05) for LRLT or cadaveric LT respectively. The 2-year post-transplant survival in children less than 1 year of age at transplantation was 88.8% and 80. 3% with a LRLT or cadaveric graft, respectively; patient survival after 3 months post-transplant was 95.8% and 91.9% for stable children waiting at home, 93.7% and 93.7% in children hospitalized for complications of their disease, and 89.5% and 77.7% for children hospitalized in an intensive care unit at the time of transplantation for children who received a LRLT or cadaveric graft, respectively. It is concluded that LRLT seems to be justified for multidisciplinary teams having a large experience with reduced and split liver grafting.

Direct bypassing of extrahepatic portal venous obstruction in children: a new technique for combined hepatic portal revascularization and treatment of extrahepatic portal hypertension.

BACKGROUND: Decompression of extrahepatic portal hypertension by directly bypassing the thrombosed portal vein has never been reported in cases of children with idiopathic (or neonatal) portal vein obstruction and cavernoma. METHODS: Seven children (15 years or younger) with portal vein obstruction requiring surgical decompression (urgently in two cases), and in whom preoperative Doppler had shown that the intrahepatic portal branches were hypoplastic but free of thrombus, were included in a pilot study. The cavernoma was bypassed by interposing a venous jugular autograft between the superior mesenteric vein and the distal portion of the left portal vein. Patients received follow-up using routine clinical parameters, upper gastrointestinal endoscopy, and Doppler ultrasound. RESULTS: The mesenterico-portal bypass restored a direct (physiological) hepatopetal portal flow. The operation resulted in effective portal decompression as demonstrated by decrease of the pressure gradient, rapid regression of clinical signs of portal hypertension, and definitive control of bleeding. CONCLUSIONS: This study shows that direct bypassing of portal cavernoma is possible and results in effective portal decompression. Restoration of the hepatic portal flow is a major advantage compared with conventional surgical shunting procedures. This new technique is potentially applicable to two thirds of children with portal vein thrombosis and should be considered when shunting procedures are indicated.