Waardenburg syndrome (WS) is a neurocristopathy disorder combining sensorineural deafness and pigmentary abnormalities. The presence of additional signs defines the 4 subtypes. WS type IV, also called Shah-Waardenburg syndrome (SWS), is characterized by the association with congenital aganglionic megacolon (Hirschsprung disease). To date, 3 causative genes have been related to this congenital disorder. Mutations in the EDNRB and EDN3 genes are responsible for the autosomal recessive form of SWS, whereas SOX10 mutations are inherited in an autosomal dominant manner. We report here the case of a 3-month-old Morrocan girl with WS type IV, born to consanguineous parents. The patient had 3 cousins who died in infancy with the same symptoms. Molecular analysis by Sanger sequencing revealed the presence of a novel homozygous missense mutation c.1133A>G (p.Asn378Ser) in the EDNRB gene. The proband's parents as well as the parents of the deceased cousins are heterozygous carriers of this likely pathogenic mutation. This molecular diagnosis allows us to provide genetic counseling to the family and eventually propose prenatal diagnosis to prevent recurrence of the disease in subsequent pregnancies.
Primary pancreatic hydatid lesions are very rare with an incidence of less than 1% in the adult population. We report an observation of a 5-year-old girl who consulted for isolated abdominal pain occurring for 2 weeks without vomiting, transit disorders or jaundice and evolving in a context of conservation of the general condition and apyrexia. Clinical examination and preoperative imaging have suggested the diagnosis of a choledochal cyst or duodenal duplication rather than a hydatid cyst of the pancreas due to the presence of a cystic hepatic image projecting into the liver hilum. During the procedure, a hydatid cyst was found occupying the head of the pancreas. Primary hydatidosis of the pancreas in children is extremely rare. Possible sources of infection include: blood diffusion, local spread via biliopancreatic ducts and peripancreatic lymphatic invasion. In the endemic areas, hydatid disease should be mentioned in the list of differential diagnoses of cystic lesions located around the biliopancreatic junction in children.
Traumatic dislocation of the hip in children is a rare disease. It only represents 5% of hip dislocations in all age groups. Before 10 years, the mechanism is often a minimal domestic accident; after 10 years, the dislocation occurs with the waning of an accident of the public highway. It is different from that of the adult by its rarity, its ease of reduction and better prognosis. This is an emergency trauma: risk necrosis of the femoral head (If delayed reduction). We report a rare case of a 3 year old boy, who suffered from bipolar trauma after a fall near his height of his house causing him a detachment of the right humerus and post-traumatic dislocation of the left hip. The diagnosis was clinically confirmed by the results of standard radiographs and CT scans of the pelvis. The consultation period to emergencies was 5 hours after the trauma. We performed an hour after a closed reduction under general anesthesia for hip dislocation with establishment of a splint pelvic-pedal for analgesic keep for three weeks. The radiological outcome was satisfactory. Peeling Salter I humerus was reduced by orthopedic manner and immobilized by thoracoabdominal plaster to keep for a month. The child was discharged the next day. Reviewed in consultation after a month, the clinical examination showed a steady left hip. Traumatic dislocation of the hip in children is a rare diagnosis, the management should as urgent as possible to overcome the different possible subsequent complications dominated by coxa magna.
L'angiomatose diffuse ou syndrome de Bean est une entité rare caractérisée par des malformations veineuses essentiellement cutanées et digestives pouvant se compliquer d'hémorragie de gravité variable. Notre travail intéresse l'étude de deux enfants, l'un âgé de 5 ans et l'autre de 9 ans et demi atteints d'angiomatose diffuse suivis au service des urgences chirurgicales pédiatriques depuis des années. Le diagnostic a été évoqué devant des rectorragies et/ou des mélénas occasionnant une anémie sévère nécessitant des transfusions régulières chez nos deux patients ainsi que l'apparition des angiomes cutanés au niveau des membres. Les explorations radiologiques ont révélé la présence au niveau du jéjunum et l'iléon des multiples lésions correspondant à une angiomatose grêlique diffuse pour l'enfant de 9 ans et demi; elles n'ont pas retrouvé de localisations abdominales pour l'enfant de 5ans. Les deux malades ont été admis au bloc opératoire avec individualisation à l'exploration des angiomes dont certains saignaient activement. Une résection par entérotomie a été réalisée. Les suites ont été marquées par l'arrêt des saignements. L'intérêt de notre travail est de mettre le point sur cette entité pathologique rare, ainsi que le bénéfice du traitement chirurgical pour le contrôle des complications de cette pathologie et pour la diminution de la fréquence des transfusions.
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