The incidence of Marfan syndrome and cardiac anomalies in patients presenting with pectus deformities.

PURPOSE: The incidence of Marfan syndrome in the general population is 0.3%. Two-thirds of patients with Marfan syndrome have concurrent pectus deformity. However, incidence of Marfan syndrome and cardiac abnormalities in patients presenting with an isolated pectus deformity remains unknown. We sought to establish the degree of association between pectus deformities and these abnormalities, and whether referral of these patients for cardiac and genetic workup is warranted. METHODS: Our pediatric surgery group refers patients with pectus deformities for genetic and cardiac evaluation. We examined 415 records from 2009 to 2016, and identified 241 patients with a chief complaint of a pectus deformity. Patient characteristics, echocardiogram results, Haller indices, and genetic results were analyzed. RESULTS: The frequency of Marfan syndrome in our study was 5.3%. The incidence of Marfan was highest among patients with combined type pectus deformity (20%). Cardiac anomalies showed an overall incidence of 35%. Of those diagnosed with Marfan, 84% had cardiac abnormalities. CONCLUSION: More than 5% of patients presenting with a chief complaint of pectus deformity will have a diagnosis of Marfan syndrome, compared to 0.3% in the general population. Approximately a third of this population will have cardiac abnormalities. Referral of patients with pectus deformities for evaluation for Marfan syndrome and cardiac abnormalities is appropriate. LEVEL OF EVIDENCE: Level IV.

Neonatal esophageal perforation: nonoperative management.

BACKGROUND: Esophageal perforation is a rare complication of enteric instrumentation in neonates. Enteric tube placement in micro-preemies poses a particular hazard to the narrow lumen and thin wall of the developing esophagus. The complication may be difficult to recognize or misdiagnosed as esophageal atresia, and is associated with considerable mortality. Historically, management of this life-threatening iatrogenic disease was operative, but trends have shifted toward nonoperative treatment. Here, we review neonatal esophageal perforation at our own institution for management techniques, risk factors, and outcomes. MATERIALS AND METHODS: Seven neonatal patients with esophageal perforation were identified and charts reviewed for demographics, comorbidities, etiology of perforation, diagnostic modalities, management decisions, complications, and outcomes. RESULTS: Mean gestational age was 27.2 ± 4.0 wk, and weight at diagnosis was 892 ± 674 g. All seven patients had esophageal perforation resulting from endotracheal or enterogastric intubation and were managed nonoperatively. Treatment included removal of the offending tube, nil per os, and antibiotics. Five patients required additional interventions: four tube thoracostomies for pneumothoraces and one peritoneal drain for pneumoperitoneum. Three patients died because of sequelae of prematurity (intraventricular hemorrhage, necrotizing enterocolitis, and sepsis). One patient was diagnosed as having esophageal atresia; esophagoscopy before surgical repair established the correct diagnosis. CONCLUSIONS: Neonates, particularly those under 1500 g, are at substantial risk for iatrogenic esophageal perforation during enterogastric intubation. Nonoperative management may be a safe initial strategy in the neonatal setting, but more aggressive interventions may ultimately be required. Despite recent improvement in early recognition of this injury, misdiagnosis still occurs.

A comparison of the cleft lift procedure vs wide excision and packing for the treatment of pilonidal disease in adolescents.

BACKGROUND/PURPOSE: The cleft lift for pilonidal disease is a flap procedure designed to counteract suspected causes of closed-technique failure. This study compares cleft lift with wide excision and packing in adolescents with respect to complications, healing, and recurrence. METHODS: Charts of all patients surgically treated for pilonidal disease at our institution from August 2000 to August 2009 were reviewed retrospectively. Wide excision was routinely performed until May 2007 when the cleft lift as described by Bascom was instituted here. Factors examined were postoperative complications, wound healing, and disease recurrence. RESULTS: Seventy patients (49 males, 21 females; mean age, 16 years; mean weight, 170.5 lb) with pilonidal disease underwent a total of 39 cleft lift procedures and 34 wide excision procedures. All but 1 cleft lift patient (97.4%) healed completely, whereas 25 (73.5%) of 34 patients in the excision group healed (P < .001). The remaining 9 excision patients had chronic wounds, 3 of whom have undergone cleft lift with full healing. One cleft lift patient had recurrent disease (2.5%) compared with 7 (20.6%) of 34 excision patients (P < .02). CONCLUSIONS: The cleft lift procedure is a superior treatment method of pilonidal disease in adolescents, resulting in primary healing, lower likelihood of recurrent disease, and simplified wound care.

Laparoscopic inguinal hernia inversion and ligation in female children: a review of 173 consecutive cases at a single institution.

PURPOSE: Laparoscopic inguinal hernia inversion and ligation (LIHIL) is a method of hernia repair in which the hernia sac is inverted into the peritoneal cavity and subsequently ligated and excised. Since 2003, 5 surgeons at our institution have been performing LIHIL in girls. METHODS: A retrospective review of inguinal hernias in girls from 2003 to 2009 was performed. RESULTS: Two hundred forty-one LIHILs were performed on 173 girls. The average age of children undergoing LIHIL was 57 months (range, 1-210 months). Fifteen cases were ex-premature babies (8.7%). Of the unilateral inguinal hernias, 34% were found to have bilateral hernias intraoperatively, and these were repaired at the same operation. There have been no intraoperative complications. Postoperatively, there have been no wound complications and 2 recurrences (0.83%). Both recurrences were repaired using an open technique. CONCLUSIONS: Laparoscopic inguinal hernia inversion and ligation is a safe and effective operation in girls with a low recurrence rate. Benefits of this procedure include diagnosis and repair of the contralateral side using the same incisions, diagnosis of androgen insensitivity and other dysgenic situations, and excellent cosmesis. This operation is a straightforward technique that can be performed by most pediatric surgeons with basic laparoscopic skills.

Nonoperative management of symptomatic urachal anomalies.

INTRODUCTION: Symptomatic urachal anomalies are rare disorders that consist of urachal remnants or fistulas with or without an associated cyst. Traditionally, when a urachal anomaly was recognized, operative excision was performed. There has been a shift toward the nonoperative management of urachal anomalies at many centers, although there is little in the literature to support this practice. METHODS: A retrospective chart review of patients with urachal anomalies was performed from January 2002 to March 2008. Children with a draining umbilicus and no radiographic or surgical confirmation of a urachal anomaly were excluded. RESULTS: Fifteen patients with symptomatic urachal anomalies were identified. The average age was 3.5 years (4 weeks to 14 years). Symptoms included umbilical drainage (n = 10), abdominal pain (n = 6), omphalitis (n = 4), intraabdominal mass (n = 3), dysuria (n = 1), recurrent urinary tract infections (n = 1), and fever (n = 4). The diagnosis was confirmed by ultrasound (n = 13) and/or computed tomographic scan (n = 4). The surgically treated cases included 7 urachal cysts (5 uninfected, 2 infected) and 1 patent urachal fistula. Mean follow-up is 37 months, and there have been no reported recurrences. Those treated without surgical excision included 4 patent urachal fistulas (mean follow-up, 20 months-no recurrences) and 3 infected urachal cysts (percutaneous drainage [n = 2] and laparoscopic drainage [n = 1]-no recurrences on ultrasound at 26 months). CONCLUSION: Nonoperative management of urachal anomalies is a reasonable approach and may be extended to infected urachal cysts after initial drainage. Infected cysts that are adequately drained seem to obliterate with time. Modern ultrasonography facilitates thorough follow-up. We propose a treatment algorithm for the management of suspected urachal anomalies.

Catastrophic cardiac injuries encountered during the minimally invasive repair of pectus excavatum.

This paper presents four severe cardiac injuries that occurred in patients who underwent the minimally invasive repair of pectus excavatum (MIRPE). These complications occurred in different clinical settings, namely in a patient with an extremely severe form of pectus, in a patient who had previously undergone an open repair, after a previous open heart surgery, and at the time of bar removal. The purpose of this article is to review the circumstances leading to these cardiac injuries, share what we have learned from these patients, and hopefully help avoid these complications in the future.

Surgical management of perineal masses in patients with anorectal malformations.

BACKGROUND: The aim of this study was to review the outcome of surgical management of various types of perineal masses encountered in patients with anorectal malformations (ARM). METHODS: Retrospective review from 2 large pediatric anorectal referral centers. RESULTS: Twenty-two patients with a perineal mass were identified in more than 2000 patients treated for an ARM over a 15-year period. The 22 patients (4 men) represented all levels of severity of ARMs. The lesions were of 3 types: lipomas (n = 10), vascular anomalies (n = 4), and hamartomas/choristomas (n = 8). The lipomas were carefully removed from between the muscle fibers during the posterior sagittal anorectoplasty. The vascular anomalies (3 of 4 were hemangiomas) underwent magnetic resonance imaging preoperatively, but none were found to invade deeply and all were excised at the time of the posterior sagittal anorectoplasty. The hamartomas/choristomas all occurred in women, and 50% arose as a pedunculated mass from the vulva. The lesions contained tissues such as glia, osteoid, nephrogenic rests, and endocervical-type mucosa. One was initially misinterpreted as a teratoma, prompting a wider excision. This and all subsequent patients have been correctly diagnosed pathologically as having either hamartomas or choristomas, which were not widely excised. Follow-up ranges from 5 months to 12 years. Six of the 10 lipoma patients are continent. One vascular anomaly was re-excised and there was minor wound separation in another. None of the hamartoma/choristoma lesions recurred. CONCLUSION: The presence of unusual perineal masses can add to the complexity of ARMs; however, most of these lesions can be carefully excised with preservation of the muscle complex and ultimate continence. Hamartomatous lesions can be mistaken for teratomas but do not require aggressive excision with clear margins.

Infrared illumination during thoracoscopic excision of mediastinal bronchogenic cysts.

Bronchogenic cysts are congenital abnormalities that occur due to abnormal development of the ventral foregut. Most share a common wall with the esophagus. Excision is indicated to prevent complications such as mass effect or infection. Thoracoscopic resection has been previously described. Injury to the adjacent esophagus is a potential complication due to its close proximity, and placement of an esophageal bougie is often used to help identify the esophagus. We describe a technique utilizing the InfraVision Esophageal Kit (Stryker Endoscopy, San Jose, California) to assist in the illumination of the esophagus during dissection of mediastinal bronchogenic cysts in 3 children. The system consists of an infrared light-emitting probe and an infraredsensing endoscopic camera. The probe is easily placed prior to surgery, and allows for easy identification of the esophagus. It also clarifies the dissection plane between the cyst and the esophagus. This technique facilitates dissection of mediastinal cysts and helps avoid injury to the esophagus. It was found to be safe and effective in 3 children. The system may be applicable to other esophageal operations such as Nissen fundoplication or Heller myotomy.

Reoperative surgery for anorectal anomalies.

Complications occur during the repair of anorectal malformations relatively frequently. Unfortunately, these complications are often preventable. Furthermore, the consequences of these complications are significant. Not only do patients experience unnecessary pain and suffering, but a secondary operation always renders less optimal functional results. A 20-year experience in the care of children with anorectal malformations was retrospectively analyzed. Patients who previously underwent surgical repair at other institutions, and subsequently required secondary surgery by the primary author were evaluated; 334 patients were identified. Reasons for reoperation included fecal incontinence in 77 patients; dehiscence and retraction in 96; recto-genito-urinary fistulae in 55; persistent urogenital sinus in 31 cloaca patients; acquired vaginal atresia in 21; acquired urethral atresia in 9; posterior urethral diverticulum in 20; and overflow pseudo incontinence in 25 patients. Except for fecal incontinence, all other complications are considered preventable. The source of the complications in almost all other settings are technical errors at the time of the primary repair. Recommendations are presented to help prevent these complications, and suggestions are made on how to treat them when they occur.

Rectovaginal fistula: a common diagnostic error with significant consequences in girls with anorectal malformations.

BACKGROUND/PURPOSE: Rectovaginal fistula is a term that continues to be used frequently to describe girls with anorectal malformations. This study attempts to evaluate the true frequency of this anomaly and the consequences of its misdiagnosis. METHODS: A retrospective review of all girls with anorectal malformations treated by the senior author from 1980 through September 2000 was performed, and the pertinent literature was reviewed. RESULTS: Of the 617 patients identified, only 6 were found to have a true rectovaginal fistula, an incidence of 1%. A total of 139 of the 617 patients were referred after a previous repair. Of these, 42 had a diagnosis of recto-vaginal fistula originally. The diagnosis was incorrect in all 42. Twelve patients had a rectovestibular fistula, and 30 had a cloaca. The 30 cloaca patients, because of the misconception that they had a rectovaginal fistula, underwent an initial repair of only the rectal component of the malformation, leaving all patients with a urogenital sinus necessitating a second complete repair. CONCLUSIONS: The use of the term rectovaginal fistula is common, despite a true incidence of 1% in girls with anorectal malformations. The majority of girls will have either a rectovestibular fistula or a cloaca. Such diagnostic errors may lead to the use of inappropriate surgical techniques, incomplete repair, and unnecessary morbidity.

Urologic injuries associated with repair of anorectal malformations in male patients.

BACKGROUND/PURPOSE: Serious injuries to the urinary tract may occur during the repair of an anorectal malformation, especially in boys. This review of a large series of patients characterizes factors that may either lead to, or prevent, those injuries. METHODS: A retrospective review of 1,003 boys with anorectal malformations was performed. RESULTS: A total of 129 injuries in 1,003 patients were identified. Five hundred seventy-two of the 1,003 patients (group A) underwent definitive repair at the authors' institution. In this group, there were 19 urologic injuries; 1 bladder perforation, 1 divided ureter, 2 divided vas defera, 1 prostatic injury, 7 seminal vesicles were opened and closed, and in 7 cases, the urethra was opened and closed during the repair. Follow-up ranges from 15 years to 1 month and no late sequelae have been observed. The second group (B) consisted of 431 patients who underwent various operations at other institutions. In this group, 110 urologic injuries in 97 patients were noted. These included neurogenic bladder (n = 27), persistent, recurrent or acquired recto-urethral fistulae (n = 30), posterior urethral diverticulae that required reoperation (n = 23), urethral injuries leading to stenosis or acquired atresia (n = 19), pull-through of major urinary structures (n = 2), injured ureter (n = 1), opened seminal vesicle (n = 1), divided vas defera (n = 4), impotence (n = 1), and loss of ejaculation (n = 2). Several significant associations were noted. The most significant was that all 27 patients with neurogenic bladder and all 19 of those in group B with urethral injuries did not undergo a distal colostogram to define the level of the fistula before repair. Posterior urethral diverticulae were seen only in cases of recto-bulbar urethral fistulae repaired via an abdominal-perineal approach. CONCLUSIONS: Significant urologic injuries are associated with the repair of anorectal malformations. The risk of injury is increased in those patients who undergo repair without a distal colostogram.