No abstract

Seven children (5 male, 2 female) were seen over the last 16 years with rigid spine syndrome. Six children had rigid spinal muscular dystrophy (selenoprotein N1-related myopathy [SEPN1RM]) and 1 had myopathy associated with rigid spine. The main presenting complaint in all was difficulty in bending the spine. The diagnosis was made on clinical features and imaging of the paraspinal muscles. Muscle histopathology revealed minimal myopathic changes to severe muscle degeneration. Genetic testing, which was only available for the last case, for selenoprotein was negative.

Sixteen cases of external hydrocephalus (EH) were seen from January 1993 to June 1995. There were 13 (81.3 per cent) male and three female children. Fourteen (87.5 per cent) were under 12 months of age. Three siblings with EH were seen in one family. All but three of the 16 recovered over time without medical or surgical intervention. These three needed cerebral decongestants in the acute phase.

A very rare case of noncommunicating multiple intra and retroperitoneal enteric duplication cysts (EDCs) is reported and discussed. Two large noncommunicating EDCs, one within the mesentery of proximal jejunum causing complete luminal obstruction and other isolated cyst in retroperitoneal area displacing duodenum and extrahepatic biliary system, were resected successfully in a 2-day-old neonate along with correction of malrotation.

Stuve-Wiedemann syndrome (STWS) is a rare disorder characterised by congenital bowing of the long bones, contractures of the joints, neonatal onset of respiratory distress, sucking and swallowing difficulties, dysautonomia presenting as episodic hyperthermia, and usually an early death. Three siblings from a consanguineous marriage presented with similar clinical features over 16 years. STWS was established with their last child at the beginning of 2012. All the children exhibited the onset of STWS in the neonatal period with fever and generalised hypotonia. Examinations of all the infants revealed camptodactyly, micrognathia, bent long bones with wide metaphyses, and hypotonia. Only the second affected child had myotonia, demonstrated by electromyography. Unusual pyrexia as a presenting feature in this syndrome needs early recognition so that extensive and elaborate investigations can be avoided. The disorder is usually caused by a mutation in the leukaemia inhibitory factor receptor gene.

Ewing sarcoma, a highly malignant neoplasm of the bone, usually occurs during childhood. About 15% are extraosseous. The Ewing family of tumors (EFTs) are extremely rare in the vagina. A 40-year literature review from 1970 to 2010 revealed only nine cases. A 32-year-old woman presented with a painless vaginal mass. A wide excision was performed. Histopathology, immunohistochemistry and molecular studies confirmed extraosseous vaginal Ewing sarcoma. Despite aggressive chemotherapy with a good initial response, she developed local recurrence and metastasis to the spine and pelvis and succumbed 22 months later. A previous infiltrating ductal breast cancer, treated and in remission complicated the picture. We present the tenth case of vaginal Ewing sarcoma and the fourth to be confirmed by molecular studies. We stress the importance of molecular techniques in definitely diagnosing EFTs, especially those arising at unusual sites, particularly in the context of a previous diagnosis of breast cancer.

Portal vein thrombosis after laparoscopic splenectomy is a known complication even though it is underappreciated. Presenting symptoms are usually mild and nonspecific. Progression to intestinal infarction and portal hypertension are potentially life threatening complications. The short hospital stay associated with laparoscopic approach could delay early diagnosis, unless routine imaging studies is planned after discharge. We present a patient who after laparoscopic splenectomy for idiopathic thrombocytopenic purpura developed portal vein thrombosis leading to infarction of small intestine 9 days after the surgery. She made uneventful recovery after resection and anticoagulation. Literature is reviewed to assess the risk factors and discuss the present status regarding investigations, surveillance in postoperative period, management of established case, and role of prophylactic anticoagulation.

abstract:Objectives: Trauma is the greatest cause of morbidity and mortality in paediatric/adolescent populations worldwide. This study aimed to describe trauma mechanisms, patterns and outcomes among children with blunt torso trauma admitted to the Sultan Qaboos University Hospital (SQUH) in Muscat, Oman. Methods: This retrospective single-centre study involved all children ≤12 years old with blunt torso trauma admitted for paediatric surgical care at SQUH between January 2009 and December 2013. Medical records were analysed to collect demographic and clinical data. Results: A total of 70 children were admitted with blunt torso trauma during the study period, including 39 (55.7%) male patients. The mean age was 5.19 ± 2.66 years. Of the cohort, 35 children (50.0%) received their injuries after having been hit by cars as pedestrians, while 19 (27.1%) were injured by falls, 12 (17.1%) during car accidents as passengers and four (5.7%) by falling heavy objects. According to computed tomography scans, thoracic injuries were most common (65.7%), followed by abdominal injuries (42.9%). The most commonly involved solid organs were the liver (15.7%) and spleen (11.4%). The majority of the patients were managed conservatively (92.9%) with a good outcome (74.3%). The mortality rate was 7.1%. Most deaths were due to multisystem involvement. Conclusion: Among children with blunt torso trauma admitted to SQUH, the main mechanism of injury was motor vehicle accidents. As a result, parental education and enforcement of infant car seat/child seat belt laws are recommended. Conservative management was the most successful approach. Keywords