Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation

We report the rare association of Caroli disease (intrahepatic bile duct ectasia associated with congenital hepatic fibrosis), bilateral cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas in a female child. She presented with end-stage renal disease at the age of 1month, followed by a rapidly progressing hepatic fibrosis and dilatation of the intrahepatic bile ducts, leading to secondary biliary cirrhosis and portal hypertension. Combined liver-kidney transplantation was performed at the age of 4years, with excellent outcome. DNA analysis showed a NPHP3 (coding nephrocystin-3) homozygote mutation, confirming that this malformation complex is a ciliopathy. Conclusion: This rare association required an exceptional therapeutic approach: combined simultaneous orthotopic liver and kidney transplantation in a situs inversus recipient. The long-term follow-up was excellent with a very good evolution of the renal and hepatic grafts and normalization of growth and weight. This malformation complex has an autosomal recessive inheritance with a 25% recurrence risk in each pregnanc

Epidémiologie des traumatismes à in-line skate : état des connaissances

During the last decade, in-line skating has become an increasingly popular activity. Along with the number of reports, highlighting the number of injuries and their degree of severity, in-line skating injuries have to be considered a growing public health issue. The objective of this work is to report epidemiological knowledge about in-line skate injuries and ways of prevention. A thorough search of all reports and publications on the subject was performed through the Medline database and in references of selected publications. There are numerous case series studies and several observational ones, most of them undertaken in North America. In-line skates are used for recreation, sports, and transportation, in a variety of settings (parks, streets, bike path, etc.) and by most of age groups (5 to 71 years, median generally about 15). The most common site of injury is the wrist and forearm, although other parts of the body can be severely injured. Age, sex, physical training level, formal instruction level, lack of wearing of protective gear, skating location, may be risk factors for injury. Some preventive measures were proposed by a number of research workers (information campaigns, wearing of protective gear, instruction, laws, etc.). Several preventive attempts were undertaken but no one was appraised. In-line skates are used by all age groups and for a variety of activities. In-line skating is related to a great number of factors, such as cultural, social, geographic, urban and behavioural factors. Therefore, groups at risk for injury are very different. Emergence of an important type of injury should lead to the development of analytic epidemiological studies, based on particular groups of in-line skaters, in order to describe them, to identify and quantify risk factors and to design preventive measures, and then to appraise their efficiency

Ingestion of magnets: innocent in solitude, harmful in groups

Foreign body ingestion is frequent in children and generally associated with little morbidity. However, some foreign bodies are innocent when ingested as a single object, but may have harmful effect if numerous. We report a 9-year-old girl who swallowed 5 magnets, causing acute intestinal obstruction. At laparotomy, 2 magnets were found in the cecum and 3 in the transverse colon, attracting each other and clasping a segment of ileum in between, causing a complete obstruction of the small intestine. If numerous magnets are ingested, particular concern is advised, and if signs of intestinal distress develop, prompt laparotomy to prevent serious gastrointestinal complications should be performed

Total laparoscopic excision of retroperitoneal cystic lymphangioma

Retroperitoneal cystic lymphangioma is a rare benign tumor of the retroperitoneal lymphatics that usually manifests in infancy. If surgical excision is used in treatment, it needs to be as complete as possible to reduce the risk of recurrence. Two pediatric patients, an 18-month-old girl and a 4-yearold boy, underwent laparoscopic excision of symptomatic retroperitoneal cystic lymphangiomas. Macroscopically, the resection was complete in both cases. The postoperative course in both cases was uneventful. Both children remained asymptomatic and no recurrence was observed at 18-month follow-up. Complete laparoscopic excision should be considered as a therapeutic option to treat retroperitoneal cystic lymphangioma

Thoracoscopic sympathectomy using ultrasonic coagulating shears: a technical improvement in the treatment of palmar hyperhidrosis

Thoracoscopic sympathectomy has emerged in recent years as the treatment of choice for primary palmar hyperhidrosis when medical treatment fails. Postoperative complications have been reported in large series, however, including neurologic problems such as temporary or definitive Horner syndrome and peripheral nerve injuries. The authors report the use of ultrasonic coagulating scissors instead of electrocautery for the dissection and removal of a segment of sympathetic chain in an 11-year-old girl. A bilateral procedure was performed sequentially through three 5-mm axillary trocars on each side. The use of ultrasonic shears eliminates the risk of distal nerve injury induced by the spread of electric current and could possibly reduce the incidence of the above-mentioned complications