Peutz-Jeghers Syndrome: Lessons to be Learned in the Clinical Diagnosis.

Introduction: Peutz-Jeghers Syndrome (PJS) is an autosomal dominant disease presenting with hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on lips and oral mucosa. The incidence of this syndrome is approximately 1 in 1,20,000 births. Materials and Methods: In this article, we are presenting 11 cases of PJS which were misdiagnosed and patients were compelled to visit hospital repeatedly. All these cases were diagnosed based on clinical suspicion, family history, and histopathological examination of specimens. Most of the cases presented with intussusception and required emergency surgical management. Results: PJS can be diagnosed by the presence of microscopically confirmed hamartomatous polyps and a minimum of two of the following clinical criteria: Family history, mucocutaneous melanotic spots, and small bowel polyps with bleeding per rectally. The diagnosis can be missed if the melanotic spots on the face are missed. Routine investigations, imaging, and endoscopy were done in all cases. PJS patients need regular follow-up due to chance of recurrence of symptoms and susceptibility to cancer. Conclusion: PJS needs a high index of suspicion for diagnosis in cases of recurrent abdominal pain with bleeding per rectum. Proper family history and meticulous clinical examination for melanosis are very important to prevent the misdiagnosis of these cases.

Hernia of Umbilical Cord: An Enigma.

Introduction: Hernia of the umbilical cord (HUC) is an uncommon problem which is often misdiagnosed, leading to inadequate treatment and various complications which cause increased morbidity and mortality in neonates. To address this issue, we took up this study. Materials and Methods: Patients diagnosed with HUC from January 1, 2017, to December 31, 2021, were retrospectively analyzed. The following data of all these patients were collected and retrospectively analyzed: demography, radiological investigations, echocardiography, contents of hernia, type of surgery performed, and outcome. Results: Eighteen out of 19 patients included in the study were taken up for surgery after baseline investigations and echocardiography. Out of 19 patients, 15 were discharged successfully and are on regular follow-up. Of the remaining four patients, an anastomotic leak occurred in two and they went into sepsis and succumbed. One of the patients died before any intervention and one succumbed on 3rd postoperative day due to sepsis. Conclusion: Timely referral and intervention can save precious lives. We need to educate doctors and health-care providers so that proper diagnosis and timely management can be done for this anomaly which is associated with less morbidity and a lower rate of associated anomalies.

Pediatric Ventriculoperitoneal Shunts and their Complications: An Analysis.

INTRODUCTION: Ventriculoperitoneal (VP) shunt is the most commonly utilized shunting procedure because of the capacity of the peritoneum to resorb fluid. Initial and subsequent peritoneal catheter placements can be done with relative ease. They are associated with a variety of complications. MATERIALS AND METHODS: The total number of patients operated in the study period was 96. We studied 41 operated patients of VP shunt who had various shunt-related complications and analyzed the predisposing risk factors and spectrum of complications. RESULTS: The mean age was 28 ± 32 months out of which 28 were males and 13 females. The etiology of hydrocephalus was aqueductal stenosis in 18, Arnold Chiari malformation in 10, Dandy-Walker malformation in 2, postmeningitis in 8 (pyogenic in 5 and tubercular in 3), postintraventricular hemorrhage in 2 patients and postencephalocele surgery in 1. CONCLUSION: With this retrospective review of complications of VP shunts, age at initial shunt insertion and the interval between the age of initial shunt placement and onset of complications were the most important patient-related predictors of shunt failure. The different predominant etiological factors responsible for early and late shunt failure were infective and mechanical complications, respectively.

Intragastric pressure: Useful indicator in the management of congenital diaphragmatic hernia.

AIMS: To assess the role of measuring of intragastric pressure (IGP) during closure of congenital diaphragmatic hernia. MATERIALS AND METHODS: Thirty-two cases were included in the study (August 2008 to February 2014), and IGP has been measured intraoperatively during closure. RESULT: Patients were categorized in group A (15 patients), group B (14 patients) and group C (3 patients). In group C, IGP was more than 30 cm of water pressure and all of tehm required creation of ventral hernia and ventilator support. CONCLUSION: Measurement of IGP as an objective, noninvasive and simple method to evaluate intra-abdominal pressure and prevention of abdominal compartment syndrome and intraoperative IGP value determines the types of abdominal closure.

Patent Urachus in a Neonate: a Rarity.

Here, we present a pictorial description of a rare case of patent urachus in a neonate and its management.

Esophageal atresia with tracheoesophageal fistula associated with situs inversus totalis.

Esophageal atresia with tracheoesophageal fistula with situs inversus totalis is an extremely rare association. We are presenting a case of a preterm neonate suffering from similar condition. Fistula ligation with primary repair was done via left thoracotomy to avoid technical difficulties. Preoperative echocardiography should be done to confirm dextrocardia and disposition of the aortic arch.

Double obstruction of ureter: A diagnostic challenge.

INTRODUCTION: Isolated obstruction of the ureteropelvic junction and the vesico-ureteric junction are the two most common causes of hydronephrosis in a pediatric population.[1] They do not pose diagnostic difficulties when are present alone but when together can be difficult to diagnose. Here, we discuss the problems we faced when we encountered these two anomalies in the same ureter and the way in which we managed them. AIM: To assess the difficulties in diagnosis of pediatric patients who present with both ureteropelvic junction obstruction (UPJO) and vesico-ureteric junction obstruction (VUJO) in the ipsilateral ureter and their management protocol. MATERIALS AND METHODS: This is a retrospective study. The study period is from 1 January 2004 to 31 December 2011. Out of 254 children who were diagnosed to have hydronephrosis due to UPJO in our institute, 5 patients (in the age range of 5 to 10 years) had both UPJO and VUJO in the ipsilateral ureter. The problems we faced in diagnosing the two conditions are mentioned with a literature review. RESULTS: Operative intervention was used in four out of five patients; none of the patients had an accurate diagnosis before surgery. All patients were suspected of having double obstruction during pyeloplasty when appropriate size double J stent could not be negotiated through the vesicoureteric junction into the bladder. Postoperative nephrostogram confirmed the diagnosis in all patients. CONCLUSION: Children with double obstruction of the ipsilateral ureter present as a diagnostic dilemma. Because of the rarity of this condition it can escape the eye of even an astute clinician. Early diagnosis can be made if this condition is kept in mind while treating any hydronephrosis due to UPJO or UVJO.

Gastric volvulus with partial and complete gastric necrosis.

Here, we report two interesting cases of gastric necrosis in acute gastric volvulus due to eventration of the diaphragm. Both the cases presented with a significant challenge and were managed successfully. The management of the cases is presented and relevant literature is discussed. To the best of our knowledge, this is the first case report of gastric volvulus with gastric necrosis requiring complete and partial gastrectomy in the available English literature.

Hydatid cyst within a choledochal cyst.

A 5 year 4 months old male child presenting with pain abdomen and jaundice was diagnosed to have type 1 choledochal cyst on ultrasonography and magnetic resonance cholangio pancreatography. On exploration, the cystic dilatation of common bile duct was found to have a hydatid cyst (HC) inside it. The per-operative findings were confirmed by histopathology. Association of HC within a choledochal cyst is extremely rare and has been reported only twice before in the available English literature.

Mediastinal ganglioneuroma: An incidentaloma of childhood.

Ganglioneuroma is a rare benign neurogenic tumor which represents the final maturation stage of neuroblast tumors. Here, we are discussing an interesting case of incidentally detected posterior mediastinal ganglioneuroma which should be kept in mind when dealing with any child with respiratory distress.

Ovarian cysts and tumors in infancy and childhood.

AIM: Review of the clinical presentation, types (histology), and stages of presentation and overall outcome of ovarian tumors. MATERIALS AND METHODS: This is a retrospective study. Forty nine girls from 3 days to 12 years were included in the study. RESULTS: Fourteen girls had benign and thirty three had malignant ovarian tumors. One girl had bilateral ovarian non-Hodgkin lymphoma. Dysgerminoma (40%) was the commonest malignant tumor followed by malignant teratoma (16.6%). CONCLUSION: Pain and abdominal lump are the most common modes of presentation. Prognosis depends on the size of the tumor, stage and histology of the tumor. Conservative surgery should be the aim. Multidisciplinary management gives good prognosis.

Gallbladder polyp: A rare lesion in pediatric population.

An 11-years-old girl with a polyp in the gallbladder is reported. Laparoscopic cholecystectomy was curative.

Congenital duodenal obstruction with preduodenal portal vein and situs inversus totalis: report of two cases and literature review.

Preduodenal portal vein is a rare congenital anomaly that causes high intestinal obstruction. The authors report two interesting cases of preduodenal portal vein that were diagnosed as having congenital duodenal obstruction. As there is a high potential for surgical risk, this anomaly is of special interest to the surgeon and should be kept in mind. Here, we discuss the clinical presentation, diagnosis and management along with a review of the literature.

Eventration of diaphragm with gastric duplication cysts: a rare association.

Eventration of diaphragm is defined as an abnormal and permanent elevation of the hemidiaphragm without defects. It may be congenital (muscular hypoplasia) or acquired (injury of the phrenic nerve). Diaphragmatic eventration has been reported alone or in association with other malformations. Here the authors are presenting a case of eventration of diaphragm with gastric duplication cysts because they could not find such association in the available English literature.

Neglected intussusception presenting as transanal prolapse of small bowel.

Although transanal prolapse of intussusception in infants is well recognized, it is rarely reported and confusion with rectal prolapse often results in delayed diagnosis and treatment. This report highlights the problems of delayed diagnosis and the morbidity and mortality associated with this condition. The authors report a case of 9 mo old boy who presented with prolapsing small bowel mimicking rectal prolapse.

Teratoid Wilms' tumor - A rare renal tumor.

Teratoid Wilms' tumor is an extremely rare renal tumor. We report a case of unilateral teratoid Wilms' tumor in a 4-year-old girl. The patient was admitted with a right-sided abdominal mass. The mass was arising from the right kidney. Radical nephrectomy was done and the patient had an uneventful recovery. Histopathology report showed teratoid Wilms' tumor.

Congenital penile urethrocutaneous fistula: A rare anomaly and review of literature.

Congenital penile urethrocutaneous fistula is described as an unusual developmental anomaly in children who present with an abnormal opening on the ventral aspect of penis with a normal foreskin and an absence of chordee and hypospadias. The authors present a discussion on the etiology, embryology, and management of this entity along with a description of three cases. We emphasize meticulous clinical examination for the diagnosis and to rule out other associated anomalies.

Choledochal cyst: A review of 79 cases and the role of hepaticodochoduodenostomy.

AIM: To analyze our experience of choledochal cysts. The results of complete excision of cyst and hepaticodochoduodenostomy have been analyzed in particular. PERIOD OF STUDY: January 1993 to August 2010. Apart from basic investigations, we did ultrasonography (USG) of abdomen, contrast-enhanced computerized axial tomography scan (CECT), endoscopic retrograde cholangiopancreatography (ERCP), operative cholangiogram, hepatic isotope scan (HIDA), magnetic resonance cholangiopancreatogram (MRCP) and choledochoscopy. The patients were divided into six groups according to the management done and the results analyzed. RESULTS: The total number of cases was 79 (Male : Female = 26 : 53). The mean age of presentationwas 5.18 years. The most common mode of presentation was abdominal pain in 86% cases. Types of cysts - Type I: 63; Type IV: 12; Forme fruste: 1; Caroli's disease: 1; Cyst with atresia in the lower end of common bile duct: 2. Two patients of group A (cyst excision and Roux-en-Y hepaticojejunostomy) had recurrent pain and cholangitis. One patient required revision for stricture. In group E (n=53) (excision of cyst and hepaticodochoduodenostomy), three patients developed occasional epigastric pain and they responded to omeprazole. One patient developed anastomotic stricture and was lost to follow up. One patient of cyst with biliary atresia with biliary cirrhosis died. CONCLUSIONS: In choledochal cyst, complete excision of cyst and good bilioenteric anastomosis with wide stoma should be done. Hepaticodochoduodenostomy with wide stoma is a simple, quick procedure with preservation of normal anatomy and physiology and minimum complications. It also avoids multiple intestinal anastomoses and so should be the preferred approach.

Spontaneous gall bladder perforation: a rare condition in the differential diagnosis of acute abdomen in children.

Gallbladder perforation is very rare in children and almost exclusively is a complication of cholecystitis, which accompanies severe inflammation of the gallbladder with or without cholelithiasis. Here we present 4 cases of spontaneous gall bladder perforation, which should be kept in mind as a condition for inclusion in the differential diagnosis of an acute abdomen in children.