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Medina, Saudi Arabia

Habeb A.M.,Maternity and Children Hospital
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia | Year: 2012

Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare condition caused by mutations in the transient receptor potential melastatin 6 (TRPM6) gene. Patients usually present during early infancy with symptomatic hypocalcemia; however, intracranial calcification has not been previously reported in HSH. We report on a three-month-old Saudi girl who presented with hypocalcemic convulsions and was initially treated as nutritional rickets. However, further biochemical analysis of blood and urine were suggestive of HSH. This diagnosis was confirmed by mutation analysis, which identified a novel homozygous frame shift mutation (ins 2999T) of the TRPM6 gene. A computed tomography brain scan, done around the time of diagnosis, identified bilateral basal ganglia calcification (BGC). Her serum calcium and the BGC improved with magnesium replacement. BGC can be added as a new feature of HSH and the case highlights the importance of measuring serum Mg in patients with hypocalcemic convulsions, particularly in children of consanguineous parents.

Al-Salem A.H.,Maternity and Children Hospital
Pediatric Surgery International | Year: 2013

Background: Massive splenic infarction (MSI) is a very rare condition. Few reports of splenic infarction of various etiologies including hematological and non-hematological causes have been published. On the other hand, MSI in patients with sickle cell anemia (SCA) is extremely rare. This report describes our experience with 15 children with SCA and MSI outlining aspects of presentation, diagnosis and management. Patients and methods: The records of all children with MSI were retrospectively reviewed for age at diagnosis, sex, clinical features, precipitating factors, investigations, management and outcome. Results: 15 children (11 M: 4 F) with SCA were treated for MSI. Their mean age was 10.9 years (6-17 years). All presented with severe left upper quadrant abdominal pain. In nine, this was associated with nausea and vomiting. Three were febrile and all had a tender splenomegaly. Their mean hemoglobin was 8.2 g/dl (5.7-11.3 g/dl), mean WBC was 10.97 × 103 mm-3 (3.6 × 103-22.3 × 103 mm-3) and mean platelet count was 263.3 × 103 mm-3 (40 × 10 3-660 × 103 mm-3). In seven, there was a precipitating cause including high altitude in two, acute chest syndrome in two, septicemia in two and severe vasooclusive crisis in one. Abdominal ultrasound and CT scan confirmed the diagnosis of MSI which involved more than half of the spleen in 12 and whole spleen in 3. All were treated with IV fluids, analgesia and blood transfusion where appropriate. Eleven had splenectomy because of persistent abdominal pain, three developed splenic abscess and underwent splenectomy and one settled on conservative treatment. Histology confirmed the diagnosis of splenic infarction in 11 and infarction with abscess in the remaining 3. Conclusion: MSI is extremely rare in children with SCA. It can develop spontaneously or precipitated by other factors namely high altitude, acute chest syndrome and severe stress. Most reported cases of splenic infarction are small in size, focal and can be treated conservatively. MSI, on the other hand, may necessitate splenectomy for persistent symptoms or in case of complications, such as abscess formation. © 2012 Springer-Verlag Berlin Heidelberg.

Al-Salem A.H.,Maternity and Children Hospital
World Journal of Pediatrics | Year: 2010

Background: Congenital Morgagni-Larrey's hernia (CMLH) is rare and known to be associated with a high incidence of bilaterality and associated anomalies. This study aimed to review our patients with bilateral CMLH and evaluate their presentation, associated anomalies, diagnostic difficulties and therapy. Methods: From January 1989 to December 2007, we treated 8 children with bilateral CMLH at our hospital. Their medical records were retrospectively reviewed for age, sex, symptoms, associated anomalies, diagnosis, operative findings, treatment and outcome. Results: Among the 8 children, 4 were male and 4 female, with a mean age of 22.74 months (range: 0.93-108 months). Six of them sustained repeated attacks of pneumonia. In 5 children, bilaterality was diagnosed at surgery. Associated anomalies were observed in all children, including congenital heart disease in 5, Down's syndrome in 4, malrotation in 3, inguinal hernia in 2, umbilical hernia in 1, and pyloric stenosis in 1. All of these children were operated on transabdominally. All of them did well postoperatively and on follow-up ranging from 1.5 years to 5 years (mean: 3 years), one had recurrence of the hernia as well as an incisional hernia. Conclusions: The diagnosis of bilateral CMLH may be difficult preoperatively, especially if one of the hernial sacs is empty. CT scan is valuable to diagnose bilateral hernias. To repair these hernias, we advocate a transabdominal approach, which allows easy reduction and inspection of contents, access and repair of bilateral hernias, and correction of associated malrotation if present. © 2010 World J Pediatr. All rights reserved.

Al-Salem A.H.,Maternity and Children Hospital
Journal of Pediatric Hematology/Oncology | Year: 2016

Splenomegaly and hypersplenism are common complications among children with thalassemia necessitating splenectomy. Thirty-six children (27 β-thalassemia major, 3 Hb H disease, and 6 thalassemia intermediate) had total splenectomy (11 laparoscopic and 13 open splenectomy) or partial splenectomy (12 patients). In the partial splenectomy group, 2 with Hb H required no transfusions. For those with β-thalassemia major who had partial splenectomy (9 patients), there was a reduction in the number of transfusions from a preoperative mean of 15.2 transfusions per year to a postoperative mean of 8.2 transfusions per year. Subsequently and as a result of increase in the size of splenic remnant, their transfusions increased, but none required total splenectomy. Twenty-four patients had total splenectomy (13 open and 11 laparoscopic splenectomy). Their postsplenectomy transfusions decreased from a preoperative mean of 17.8 transfusions per year to a postoperative mean of 10 transfusions per year. There was no mortality, and none developed postoperative sepsis or thrombotic complications. Total splenectomy is beneficial for children with β-thalassemia major and hypersplenism by reducing their transfusion requirements. Laparoscopic splenectomy is however more beneficial. Partial splenectomy reduces their transfusion requirements, but only as a temporary measure, and so it is recommended for children younger than 5 years of age. © Copyright 2015 Wolters Kluwer Health, Inc. All rights reserved.

Alqahtani A.,King Saud University | Al-Salem A.H.,Maternity and Children Hospital
Surgical Laparoscopy, Endoscopy and Percutaneous Techniques | Year: 2011

Background: Morgagni hernia is rare and represents less than 5% of all congenital diaphragmatic hernias. The defect is repaired either by conventional open surgery or laparoscopically. The aim of this study was to compare the conventional open technique with the laparoscopic-assisted repair of Morgagni hernia. Patients and Methods: The medical records of all infants and children with the diagnosis of Morgagni hernia were retrospectively reviewed and divided into 2 groups according to the method of repair, the laparoscopic-assisted group and the open surgery group. The 2 groups were compared according to the operative time, hospital stay, time to commencement of full feeds, requirement for postoperative analgesia, complications, and outcome. Results: Twenty-three (16 male and 7 female) patients had open surgery repair. Their age ranged from 1 to 60 months (median 9 mo). Nine patients had right-sided, 5 had left-sided hernia, and 9 (39%) had bilateral hernias. Associated anomalies were seen in 18 patients (78.3%). Eight patients (34.8%) had congenital heart disease, 5 (21.7%) had malrotation of bowel, and 6 (26%) had Down syndrome. All were operated transabdominally (14 upper midline and 8 upper transverse) except for 1 patient who had a right thoracotomy. In all patients, there was a hernia sac that was excised and the defect was repaired using nonabsorbable sutures. On follow-up, 2 patients (8.7%) developed recurrence. Sixteen patients (10 boys and 6 girls) had laparoscopic-assisted repair of Morgagni hernia. Their age ranged from 8 to 42 months (median 18.5 mo). Only 1 patient had Down syndrome and congenital heart disease. Seven patients had right-sided hernia, 7 had left-sided hernia, and 2 had bilateral hernia. On follow-up, 1 patient had a small residual sac 6 months postoperatively, without clinical significance. When the 2 groups were compared, the laparoscopic-assisted group was better in terms of shorter operative time, shorter time to commencement of full feeds, less postoperative analgesia, shorter hospital stay, and better cosmetic results. Conclusions: Laparoscopic-assisted repair of Morgagni hernia is an excellent and simple alternative to open surgery. It is, however, superior over conventional open surgery and the benefits are shorter operative time, early commencement of full feeds, less postoperative analgesia, rapid recovery, shorter hospital stay, and better cosmetic results. Laparoscopic-assisted repair of Morgagni hernia should be considered as the procedure of choice for the treatment of Morgagni hernia in infants and children. Leaving the hernia sac plicated in place has no adverse effects. © 2011 by Lippincott Williams & Wilkins.

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