Megacystis microcolon intestinal hypoperistalsis syndrome: a report of a variant

Megacystis microcolon intestinal hypoperistalsis syndrome is a very rare cause of functional intestinal obstruction in newborns. It is associated with nonobstructed distended urinary bladder, microcolon, and decreased or absent intestinal peristalsis. The prognosis is poor and most patients die early because of sepsis or total parental nutrition-related complications. This report describes a new case of megacystis microcolon intestinal hypoperistalsis syndrome associated with meconium ileus, dilated stomach, and megaesophagus.Keywords: intestinal hypoperistalsis syndrome, megacystis, microcolo

Congenital Morgagni’s hernia in infants and children: a national review

Background: Congenital Morgagni’s hernia (CMH) is rare and has unique features in terms of clinical presentation, high incidence of bilaterality, and associated anomalies. This is a review of all CMH cases reported from Saudi Arabia, highlighting clinical features, associated anomalies, aspects of diagnosis, and management.Patients and methods: A Medline search was made for all manuscripts published from Saudi Arabia on CMH. The total number of patients, their age at diagnosis, sex, clinical features, associated anomalies, site of hernia, and methods of treatment were recorded.Results: From 1991 to 2014, 19 manuscripts were published from Saudi Arabia. The total number of patients reported was 106 (72 male and 31 female). In three patients, the sex was not reported. Their mean age was 23.8 months (1 month–9 years). Recurrent chest infection was the most common presentation [56 (54.4%)]. In seven (6.8%) patients, the hernia was discovered incidentally and 19 (18.4%) presented acutely. Associated anomalies were seen in 66 (64%) of 103 patients. Down’s syndrome (30%) and congenital heart disease (23%) were the most common. Sixty-four (60.4%) underwent repair through an abdominal approach, 36 (34%) underwent laparoscopicassisted repair, and in five (4.7%) patients the hernia was repaired laparoscopically. In 94 patients, the site of the hernia was specified [45 (47.9%) right, 22 (23.4%) left, and 27 (28.7%) bilateral]. Four (3.8%) developed recurrences and three had an incisional hernia. One developed midgut volvulus 3 years postoperatively.Conclusion: CMH is rare and the presentation is nonspecific and variable but the majority present with repeated attacks of chest infection. Physicians caring for these patients should be aware of this, and infants and children with repeated attacks of chest infection should be investigated. It is also important to evaluate these patients for possible associated anomalies, including an echocardiogram. Once the diagnosis of CMH is confirmed, they should be repaired surgically regardless of whether symptomatic or asymptomatic. The laparoscopic-assisted approach is a simple, safe, and sound technique, and leaving the hernia sac intact has no adverse effects.Keywords: associated anomalies, congenital diaphragmatic hernia congenital Morgagni’s hernia, treatmen

Splenic Complications of Sickle Cell Anemia and the Role of Splenectomy

Sickle cell disease is one of the common hemoglobinopathies in the world. It can affect any part of the body and one of the most common and an early organ to be affected in SCA is the spleen. It is commonly enlarged during the first decade of life but then undergoes progressive atrophy leading to autosplenectomy. This however is not the case always and sometimes splenomegaly persist necessitating splenectomy for a variety of reasons including acute splenic sequestration crisis, hypersplenism, massive splenic infarction and splenic abscess. Splenic complications of SCA are known to be associated with an increased morbidity and in some it may lead to mortality. To obviate this, splenectomy becomes an essential part of their management. This review is based on our experience in the management of 173 children with various splenic complications of SCA necessitating splenectomy

Congenital Paraesophageal Hernia with Intrathoracic Gastric Volvolus in Two Sisters

Congenital paraesophageal hernia is rare in infants and children. This paper describes our experience with seven infants and children with congenital paraesophageal hernia with emphasis on two sisters who presented with unusually large paraesophageal hernias and herniation of most of the stomach resulting in intrathoracic gastric volvolus. The literature on the subject is also reviewed

Congenital pyloric atresia: clinical features, diagnosis, associated anomalies, management and outcome

Background: Congenital pyloric atresia (CPA) is very rare and usually seen as an isolated anomaly, which has an excellent prognosis. CPA can be associated with other anomalies or familial and these are usually associated with other hereditary conditions with poor prognosis. This review is based on our experience with 20 infants with CPA.Patients and methods: This is a review of CPA, highlighting its clinical features; associated anomalies; and aspects of diagnosis, management and outcome.Results: This review is based on our experience with 20 patients with CPA (nine male and 11 female). Their mean birth weight was 2.1 kg (1.1-3.9 kg). Polyhydramnios was seen in 13 (65%) patients. Seven patients were full-term and the remaining 13 were premature. Two were brothers and four were members of the same family. Isolated CPA was seen in seven (35%) patients and 13 had associated anomalies. Epidermolysis bullosa was seen in eight (40%) patients and multiple intestinal atresias in five (25%). Three patients had associated esophageal atresia. Pyloric diaphragm was the most common and seen in 13 patients including double diaphragms in two followed by pyloric atresia with a gap in four and pyloric atresia without a gap in three. All patients did well in the early postoperative period; however, 10 died later giving an overall survival of 40%. Sepsis was the main cause of death.Conclusion: CPA is a very rare malformation that can be familial and inherited as an autosomal recessive. It can either occur as an isolated lesion with an excellent prognosis, or be associated with other anomalies. The overall prognosis of CPA, however, is still poor, and this is due to the frequent-and often fatal-associated anomalies.Keywords: aplasia cutis congenita, congenital pyloric atresia, epidermolysis bullosa, hereditary multiple intestinal atresi

Splenogonadal fusion: A forgotten cause of testicular swelling in children

Splenogonadal fusion is a rare congenital anomaly in which there is fusion of the  spleen and the gonad. This report describes a 25-month-old male child who presented with left scrotal swelling. On exploration, a discontinuous type of splenogonadal fusion was found. It was successfully and completely separated from the testis and removed. The diagnosis of splenogonadal fusion should always be kept in mind and included in the differential diagnosis of testicular swelling in infants and children. Rarely, it is diagnosed preoperatively and physicians caring for these patients should be aware of this. Intraoperatively, it should be recognized and excised. This is to obviate unnecessary orchiectomy, mistaking it for testicular neoplasm.Keywords: congenital anomalies of gonads, splenogonadal fusion, testicular swellin

Strongyloides stercoralis hyperinfection in a post-renal transplant patient

Strongyloides stercoralis is an intestinal nematode that is able to infect the host tissue and persist asymptomatic for many years through autoinfection. It causes life-threatening hyperinfection in immunocompromised hosts. This report describes a rare case of strongyloidiasis in a 40-year-old male following renal transplant, which was diagnosed by colonoscopic biopsy. The literature on the subject is also reviewed

Congenital duodenal diaphragm in eight children

Background: Congenital duodenal obstruction (CDO) is a common and usually easy to diagnose cause of intestinal obstruction in the newborn, except when the cause of the obstruction is a duodenal diaphragm. We describe our experience with eight children who had intrinsic duodenal obstruction secondary to a duodenal diaphragm.Methods: The medical records of 22 children with the diagnosis of congenital intrinsic duodenal obstruction were reviewed for age at diagnosis, sex, gestation, birth weight, clinical features, associated anomalies, method of diagnosis, treatment and outcome. Operative findings and procedures were obtained from the operative notes.Results: Eight of the 22 children (36.4%) had congenital duodenal diaphragm (CDD). In all children, the diagnosis was made from plain abdominal X-ray, which showed the classic double-bubble appearance, and barium meal, which showed duodenal obstruction. Four patients had associated anomalies, including two with Down\u27s syndrome. Intraoperatively, five patients were found to have duodenal diaphragm with a central hole, while the other three had complete duodenal diaphragms. Postoperatively, all patients did well. Six required total parenteral nutrition.Conclusions: The 100% survival rate among these children is comparable to that in Western countries, and can be attributed to the lack of major associated abnormalities, good perioperative management, and the availability of total parenteral nutrition

The value of computed tomography-urography in predicting the postoperative outcome of antenatally diagnosed pelviureteric junction obstruction

Background The natural course of pelviureteric junction (PUJ) obstruction is  variable. Of those who require surgical intervention, there is no definite reliable  preoperative predictor of the likely postoperative outcome. We evaluated the value of preoperative computed tomography (CT)-urography in predicting the  postoperative outcome.Patients and methods Ten newborns with antenatally diagnosed PUJ obstruction  were evaluated after delivery with an abdominal ultrasound, and those with a renal pelvis measuring more than 3 cm in diameter were subjected to preoperative CT-urography. The kidney size, renal pelvis size, and renal parenchyma thickness were measured and documented. All underwent open surgical Anderson-Hynes dismembered pyeloplasty. The outcome was correlated to the preoperative renal parenchymal thickness as measured by means of preoperative CT-urography.Results Ten newborns (seven male and three female) with PUJ obstruction were  operated on. Their ages at surgery ranged from 8 days to 4 months (mean= 1.75 months). Eight had PUJ obstruction on the right side and two had PUJ obstruction on the left side. The mean renal pelvis size on the affected side was 4.9 cm (3.6–6.3 cm). The mean renal parenchymal thickness was 0.57cm (0.25–1.3 cm). Four patients had a renal parenchymal thickness less than 0.5 cm, and these patients showed poor results on followup isotope scan compared with those who had a renalparenchymal thickness of more than 0.5 cm [mean= 14.9% (12–19.6%)] compared with a mean of 44.2% (33–54%).Conclusion This is a preliminary report and the number of patients in our study is small to make definite conclusions, and further studies in this regard are important. We believe that renal parenchymal thickness as measured by means of preoperative CT-urography is an important predictor of the final outcome in patients with  antenatally diagnosed hydronephrosis. Those who had a renal parenchymal thickness of 0.5 cm or less showed poor results on followup isotope scan compared with those who had a renal parenchymal thickness of more than 0.5 cm.Keywords: outcome, pelviureteric junction obstruction, pyeloplast