Polymorphism of 3' UTR of MAMLD1 gene is also associated with increased risk of isolated hypospadias in Indian children: a preliminary report.

OBJECTIVE: To study MAMLD1 gene polymorphisms, serum LH and testosterone levels amongst Indian children with isolated hypospadias (IH) and controls. MATERIALS AND METHODS: Screening of the MAMLD1 gene was performed by PCR sequencing method in 100 Indian children aged 0-12 years presenting with IH and 100 controls. LH and testosterone hormone levels were also assessed (categorized in four age-wise groups). RESULTS: IH subjects had significantly higher incidence of MAMLD1 polymorphism as compared to controls (33 vs 15 %, p = 0.01). Of various genomic variants identified in this study, the noteworthy novel ones were missense mutation P299A and single nucleotide polymorphism c.2960C>T in 3' UTR of Exon 7. While p 299A was found to cause protein structural instability consequent to amino acid change, eighty percent subjects with c.2960C>T in 3' UTR of Exon 7 (corresponding to newly discovered currently non-validated exon 11) were found to have lower testosterone levels when compared with their age group mean. IH showed statistically higher incidence of c.2960C>T in comparison to controls (22 vs 10 %, p value 0.046) and about 2.5-folds higher risk of this anomaly. CONCLUSION: Occurrence of MAMDL1 gene polymorphisms, specially of c.2960C>T in 3' UTR of its exon 7 is associated with a higher risk of IH in Indian children, probably by lowering androgenic levels.

Thoracoscopic excision of foregut duplication cyst: A case report and review of literature.

Thoracoscopy has major advantages over thoracotomy. We report a successful management of foregut duplication cyst thoracoscopically in a child with review of literature.

Laparoscopic-assisted transanal pull-through for Hirschsprung's disease: Comparison between partial and near total laparoscopic mobilization of rectum.

BACKGROUND: Transanal pull-through with laparoscopic assistance is gaining popularity. How much rectal dissection to do laparoscopically and how much transanally is not clear. Laparoscopic rectal mobilization is akin to open pelvic dissection of Swenson's operation - the most physiological procedure. Through this comparative study, we aim to evolve a technique that maximizes the benefits of Swenson's technique and minimizes the problems of a transanal procedure. MATERIALS AND METHODS: Twenty patients (19 boys and one girl, newborn to 6 years) with Hirschsprung's disease (HD) were randomized for laparoscopic-assisted transanal pull-through (LATAPT) either by near complete (Group A) or partial (Group B) laparoscopic mobilization of rectum. Patients were followed up for at least 3 months. Demographic profile; operative details (time taken, blood loss, operative difficulty, and complications); postoperative course (duration of urinary catheter, oral feeding, and hospital stay); and follow-up stooling pattern, consistency, and continence were compared in the two groups. RESULTS: The time taken for laparoscopic mobilization was marginally higher in group A, but the time taken for transanal dissection in this group was significantly less than in group B. All other comparisons showed no significant difference in the two groups. Stool frequency and continence improved with time in both groups. CONCLUSION: Extent of laparoscopic mobilization of rectum does not appear to be a factor deciding the outcomes. No recommendations could be made in view of the small number of cases. However, it shows that laparoscopic assistance can be used to maximize the benefits of Swenson type of operation and a transanal pull-through.

Unusual ventriculoperitoneal shunt extrusion: experience with 5 cases and review of the literature.

Distal migration of ventriculoperitoneal shunt is rare. We present this unusual complication in 5 patients. The lower end of the shunt was extruded from right lumbar region, cervical area, umbilicus and rectum. The cause of such extrusion is not known. The patients were managed by shunt removal followed by shunt replacement on the opposite side.

"Limited" double dorsal dartos flap coverage. An effective alternative to conventional flap coverage of the neourethra following Mathieu repair for subcoronal hypospadias.

OBJECTIVES: Double dorsal dartos flap coverage of the neourethra has been reported to be superior to single flap coverage for the prevention of urethrocutaneous fistula following hypospadias surgery. Conventional flap coverage involves covering the entire neourethra with vascularised flap. We describe a "limited" double dorsal dartos flap coverage of the neourethra following Mathieu repair for subcoronal hypospadias. MATERIALS AND METHODS: In a prospective study conducted between Feb 2003 and Feb 2007, 31 patients with primary subcoronal hypospadias who had a flat and narrow urethral plate with a healthy urethral meatus and minimal or no chordee underwent Mathieu hypospadias repair. A "limited" double dorsal dartos flap coverage of the neourethra was done in all patients. This involved covering only that portion of the neourethra which remained exposed after glans closure, i.e. the proximal neourethra. Primary surgical outcome assessed was the development of urethrocutaneous fistula following surgery. RESULTS: The mean age at the time of repair was seven years and mean follow up was eight months. There was no flap loss, urethrocutaneous fistula formation, or glanular dehiscence in any of the 31 patients. One patient developed meatal stenosis which was managed by dilatation. One patient developed superficial sloughing of the penile skin. Overall complication rate was 6.45%. CONCLUSION: "Limited" double dorsal dartos flap coverage of the neourethra seems to be an effective method to reduce the fistulous complication rate following Mathieu repair for subcoronal hypospadias. A larger comparative study needs to be done to evaluate conventional neourethral coverage with "limited" neourethral coverage.

Double gastric outlet obstruction with epidermolysis bullosa in a neonate.

We report a 2-day-old baby who had double gastric outlet obstruction, rectovaginal fistula and associated epidermolysis bullosa. She recovered after excision of diaphragms, pyloroplasty and pelvic colostomy.

Hemoperitoneum as a first manifestation of HCC with bleeding from ruptured aberrant vessel: a case report.

A young man presented with a history of abdominal pain and distension for 4 days. Diagnosis of spontaneous hemoperitoneum was made after clinical examination, abdominal USG and a diagnostic peritoneal tap. Emergency laparotomy revealed massive hemoperitoneum with extensive bilobar hepato-cellular carcinoma (HCC). A ruptured aberrant vessel communicating between the intercostal vessel and HCC in the liver had caused massive hemoperitoneum.

Symptomatic Mullerian Duct Cyst in a Male Infant.

Symptomatic Mullerian duct cyst is a rare entity in children. A 9-month-old male infant presented with bowel and urinary obstructive symptoms. Imaging investigations revealed a cystic mass in the rectovesical pouch compressing bladder neck and rectum. At laparotomy, a Mullerian duct cyst was found. Most of the cyst was excised and the remaining cyst mucosa was cauterized. The child improved thereafter.

Congenital lobar emphysema: Pitfalls in diagnosis.

Congenital lobar emphysema (CLE) is a rare but life-threatening congenital anomaly leading to respiratory distress in early childhood. Diagnosis requires a strong clinical suspicion. We report a case of a 31/2-month-old infant who was initially diagnosed with pneumonia requiring multiple hospital admissions. After computed tomography of the thorax, a diagnosis on CLE was made. The child was planned for surgery in the next available routine operation theatre. However, suddenly in the evening, she developed respiratory distress and needed emergency surgical intervention. The child improved dramatically after surgery, and the postoperative period was uneventful. Early diagnosis and treatment in such cases can lead to dramatic results.

Isolated hydatid cyst of the pancreas masquerading as pancreatic pseudocyst.

Hydatid cyst of the pancreas is very rare and usually presents with obstructive jaundice. We report a case of a 7-year-old girl with cyst of the pancreas without any obstructive jaundice. The child was treated surgically and hydatid cyst of pancreas was found. Partial pericystectomy was performed. After 1 month on follow-up, the child developed pseudocyst of pancreas, which needed cystogastrostomy. Postoperatively, the child improved and is remaining well after 3 months of follow-up. Hydatid cysts of pancreas are very difficult to diagnose preoperatively and should be kept as a differential diagnosis of cystic intrapancreatic lesions. Serological tests can help in early diagnosis.

Complications of long-standing foreign body in the airway and their outcomes after endoscopic management: an experience of 20 cases.

AIM: To study the outcomes after endoscopic treatment of chronic foreign bodies (FBs) in the airway. MATERIALS AND METHODS: A retrospective study (2008-2013) of 20 cases with chronic airway FBs (>2 weeks) was done with emphasis on endoscopic management. All cases were initially evaluated by the pediatric pulmonologist. Flexible and rigid bronchoscopy was done for diagnosis and retrieval, respectively. The techniques of FB retrieval, problems encountered, and their solutions were analyzed. Follow-up flexible bronchoscopy was done in symptomatic cases. Outcomes were assessed in terms of successful removal of the FB, clinical recovery, lung expansion, and need for further procedures. RESULTS: Twenty cases (16 boys, 4 girls) with a mean age of 7 years had a chronic airway FB diagnosed on chest X-ray (n=6) and flexible bronchoscopy (n=14). Six cases had computed tomography evaluation. On rigid bronchoscopy, the FB was successfully retrieved in 16 cases. Two cases required open surgery for FB-induced tracheoesophageal fistula. One case required pneumonectomy because of a battery eroding into the lung parenchyma. One patient died. Of the 16 who had successful retrieval, 11 recovered with full lung expansion. Four recovered after additional bronchoscopic procedures (cauterization of granulation [n=2] and balloon dilatation of bronchial stenoses [n=2]). One case required pneumonectomy for persistent collapse despite multiple dilatations. CONCLUSIONS: An airway FB producing chronic respiratory symptoms may be missed because of lack of definite history of an inhaled FB. Clinical suspicion and flexible bronchoscopy are instrumental in diagnosis. Treatment is challenging because of chronicity-related complications and requires innovative ideas to make best use of the available urologic and bronchoscopic equipment. Addition of tracheotomy provides safety in difficult cases. Bronchoscopic removal leads to clinical and radiological recovery in most cases.

Bedside neonatal intensive care unit surgery- myth or reality!

Neonatal transport is associated with complications, more so in sick and unstable neonates who need immediate emergency surgery. To circumvent these problems, surgery in Neonatal intensive care unit (NICU) is proposed for these neonates. This article reviews the literature regarding feasibility of this novel concept and based on the generated evidence, suggest the NICU planners to always include infrastructure for this. Also neonatal surgical team can be developed that could be transported.

Colonic gastrointestinal stromal tumour presenting as intussusception.

Gastrointestinal stromal tumours (GIST) are rare in paediatric patients and have a discrete clinicopathological and molecular divergence from that observed in adults. In the present report we present a case of a 2-month-old female in whom colonic gastrointestinal stromal tumour acted as a lead point of colocolic intussusception. Laparoscopically assisted reduction of the intussusception and resection of tumour was done.

Pedicled omental onlay flap for post-traumatic intrahepatic major ductal injury.

We report a 5-year-old girl who presented with post traumatic biliary leakage that failed to respond to conservative management for two weeks. Surgical exploration in the third week revealed a partially healed 5 cm long hepatic laceration in the right lobe of the liver. Bile was found leaking through a rent in the major right intra-hepatic duct at the apex of liver laceration. A pedicled onlay omental flap was used to buttress this rent as direct closure was not possible due to friable tissue. The child recovered uneventfully.

Soft tissue covers in hypospadias surgery: Is tunica vaginalis better than dartos flap?

AIM: To compare tunica vaginalis with dartos flap as soft tissue cover in primary hypospadias repair. MATERIALS AND METHODS: 25 cases (age range: 12-132 months; all fresh cases) of primary hypospadias were prospectively repaired by tubularized incised plate (TIP)/TIP + graft urethroplasty using tunica vaginalis flap (TVF) as soft tissue cover to urethroplasty (group A). Their results were compared with another set (group B) of age- and anatomy-matched controls (25 patients operated during the previous 3 years) who had undergone TIP repair using dartos flap as soft tissue cover. Statistical analysis of results was done with Fischer's exact test. GROUP A: No fistula, skin necrosis, meatal stenosis, urethral stricture. One case had partial wound dehiscence that resolved on conservative treatment with no sequelae. One case required catheter removal on 3(rd) day because of severe bladder spasm. There was no testicular atrophy/ascent. Group B: 3 fistulae - all required surgery. There were three cases of superficial skin necrosis that healed spontaneously without sequel. There was no meatal stenosis/urethral stricture. The difference in fistula rate between both the groups, however, was not statistically significant (P = 0.4). CONCLUSION: TVF may have an edge over dartos fascia for soft tissue coverage of the neourethra.

Neural tube defect repair and ventriculoperitoneal shunting: indications and outcome.

Neural tube defect with its global involvement of nervous system has lot of implications. There is cotroversy in terms of timing of repair, simultaneous or metachronous ventriculoperitoneal shunt and criteria for shunt surgery in neonatal age. We are reporting our approach and results of management of this disease in neonatal period.

Laparoscopic or laparoscopic-assisted pelvic surgery in small infants: our experience.

OBJECTIVE: The objective of this study was to review our experience of laparoscopic (LA) or laparoscopic-assisted pelvic surgery (LAPS) in small infants. MATERIALS AND METHODS: The medical records of 35 patients who underwent an LA or LAPS between January 2007 and June 2010 were studied and 21 patients who were younger than 1 year or whose weight was less than 10 kg were included. Indications, procedures, results, and complications were analyzed. RESULTS: The indications of surgery and procedures done were impalpable undescended testes (7 cases--3 single-stage orchidopexy and 4 Fowler Stephen stage I ligation of testicular vessels), Hirschsprung's disease (HD; 5 cases--all laparoscopic-assisted transanal pull-through), anorectal malformation (ARM; 3 cases--all laparoscopic-assisted pull-through), disorders of sexual differentiation (3 cases--1 herniotomy and 2 gonadal biopsy), sacrococcygeal teratoma (1 case--laparoscopic mobilization of pelvic component and posterior sagittal excision), and ovarian mass (2 cases; laparoscopic oophorectomy). There were 14 males, 4 females, and 3 of indeterminate sex. All procedures could be successfully completed without conversion. There was no anesthesia-related complication or need for postoperative ventilatory support. There were no immediate procedure-related complications. One female child with ARM had rectal mucosal prolapse; 1 HD case had rectovaginal fistula that healed following fecal diversion. The major advantages of laparoscopy in different indications were magnified access into the depth of pelvis and early frozen section biopsies in HD, accurate placement of neoanus in the center of muscle complex in ARM, early ligation of vessels and avoidance of laparotomy in sacrococcygeal teratoma, ease of decision making and better mobilization of vessels in undescended testes, and diagnostic accuracy and therapeutic procedure in ambiguous genitalia. CONCLUSION: Laparoscopic pelvic surgery in small infants is a safe procedure with advantage of magnification, access, and cosmesis.