Reliability of the Hirschsprung-Associated Enterocolitis Score in Clinical Practice.

INTRODUCTION: There is a lack of an agreed Hirschsprung-associated enterocolitis (HAEC) definition. In 2009, a HAEC score was proposed for the diagnosis of HAEC episodes. Our aim was to apply the HAEC score on HAEC episodes to determine its diagnostic efficiency and whether it correlated to its severity. METHODS: Retrospective study of patients with HAEC admitted between 2000 and 2016. Episodes of HAEC were identified and the HAEC score was calculated. A cut-off of ≥ 10 according to Pastor et al and ≥ 4 according to Frykman et al were used. A Pearson's correlation coefficient was performed for outcome variable: length-of-stay (LOS). RESULTS: Note that 21/93 (22.6%) patients with Hirschsprung's disease presented 50 HAEC episodes with a median of 2 (1-5) episodes during an 8.3-year (2-15.6) follow-up. The most common symptoms were foul-smelling (86% [43/50]) and explosive (60% [30/50]) diarrhea. Physical findings showed a distended abdomen (76% [38/50]) and fever (60% [30/50]) with dilated bowel (82% [41/50]) and rectosigmoid cut-off (80% [40/50]) identified on X-rays. Only 34% (17/50) showed abnormal laboratory findings. Patients were admitted with a median LOS of 7 days (1-28). A HAEC score of 9 (2-16) was found, and only 50% (25/50) of patients met the initial criteria (score of 10 points). However, the use of a 4-point cut-off would have allowed the diagnosis of 98% (49/50) of the patients. A positive linear correlation was found for LOS and HAEC score (r = 0.3, p = 0.014). CONCLUSION: There is no standardized definition for HAEC. The initial HAEC score cut-off is restrictive and might fail to identify milder episodes. The positive correlation with LOS and thus HAEC severity might aid in patient information and anticipation of treatment.

Long-Term Results after Diversion Surgery in Extrahepatic Portal Vein Obstruction.

AIM: Extrahepatic portal vein obstruction (EHPVO) is a frequent cause of noncirrhotic portal hypertension in children. The aim of this study is to analyze long-term results after diversion surgery. PATIENTS AND METHODS: Retrospective review of EHPVO patients who underwent diversion surgery analyzing number of platelets, leukocytes, prothrombin activity, splenomegaly, and gastrointestinal bleeding 10 years after surgery. RESULTS: Thirty-three patients were evaluated, mostly males (64%) and presenting with gastrointestinal bleeding (46%). Mesoportal shunt (Rex) was performed in 19 patients, mesocaval in 7, distal splenorenal in 7, and proximal splenorenal in 3. While comparing mesoportal shunt to the other portosystemic shunts, an increase in platelets was found with every technique, but it was clearly higher in mesoportal shunt. The highest increase was 6 months after surgery (p = 0.0015) as well as prothrombin activity (p = 0.0003). Leukocytes level also increased without statistical significance. Spleen size (cm) and spleen size Z score (SSAZ) decreased significantly 6 months after mesoportal shunt (p = 0.0168). Before surgery, over 94% patients suffered gastrointestinal bleeding, which reduced significantly afterward with bleeding episodes in only four (12%) of them. CONCLUSION: Diversion surgery in EHPVO, especially mesoportal shunt of Rex, improves hepatic function (prothrombin activity), reduces hypersplenism (platelets, leukocytes, and spleen size), and decreases gastrointestinal bleeding episodes.

Prognostic Factors for Liver Transplantation in Unresectable Hepatoblastoma.

AIM: Hepatoblastoma is the most frequent hepatic tumor in children, and its initial presentation will affect treatment and prognosis. The aim of this study is to evaluate long-term results of liver transplantation in children with unresectable hepatoblastoma. PATIENTS AND METHODS: This is a retrospective review of patients with hepatoblastoma who underwent liver transplantation, analyzing risk factors, tumor presentation, treatment, and long-term survival to identify prognostic factors. RESULTS: Thirty-one patients underwent liver transplantation in the context of unresectable hepatoblastoma, mainly males (67%) and with risk factors such as prematurity (12.9%), maternal smoking (6.5%), and familial adenomatous polyposis (3.2%). Most frequent presentation was multifocal PRETEXT III (51.6%) and PRETEXT IV (45.2%), with metastasis at diagnosis in 12.9% and vascular involvement in 54.8%.Twenty-one patients received a living-donor (67.7%) and 10 a cadaveric graft (32.2%), at 31.7 months of age (5-125). Most transplants were primary, and only two were performed as rescue therapy after an attempt of surgical resection of the tumor.Overall survival 1 and 5 years after transplantation were 93.3% ± 4.6% and 86.4% ± 6.3%, respectively. We could not find any statistically significant differences between risk factors, tumor presentation, type of graft, or type of transplant. CONCLUSION: Liver transplantation has increased hepatoblastoma survival in unresectable tumors. Probably due to these good results, we have not been able to find significant prognostic factors in this cohort.

Is Intraoperative Fluoroscopy Necessary for Central Venous Port System Placement in Children?

INTRODUCTION: Central venous port (CVP) placement is traditionally performed under fluoroscopy guidance. However, efforts for radiation dose reduction in children have allowed the introduction of ultrasound guidance (USG) and anatomic landmarks as an alternative technique for CVP placement. The aim of this study is to determine whether intraoperative fluoroscopy (IF) is required to confirm the correct position of the catheter tip in children. PATIENTS AND METHODS: A prospective, single-center study was performed between July and December 2017. Standard venous access site was the right internal jugular vein under USG. Estimated catheter length (ECL) was measured using anatomic landmarks. Ideal catheter length (ICL) was measured after placement under fluoroscopy guidance in the same patient. Age, sex, radiation dose, and complications were also analyzed. A t-test for paired samples and intraclass correlation coefficient were performed to analyze results. RESULTS: A total of 30 consecutive patients aged 7 ± 2 years underwent CVP placement. The mean ECL was 17.1 ± 1.8 cm, while the mean ICL was 17.7 ± 1.8 cm. The mean difference between measurements was 0.28 cm (95% confidence interval [CI], -0.29 to 0.86; p = 0.324). Intraclass correlation coefficient analysis showed an agreement of 0.95 (95% CI, 0.91-0.98) between measurements. Mean radiation exposure during the procedure was 1.060.78 mGym2 during 0.34 ± 0.6 minutes. There were no complications registered during CVP placement. CONCLUSION: The correlation between IF and USG and anatomically guided catheter tip placement is optimal. These results suggest that fluoroscopy and the radiation exposure it entails can be safely avoided in selected children.

Nuss Procedure for a Patient with Negative Haller Index.

Introduction Minimally invasive repair for pectus excavatum (MIRPE) is controversial in extremely severe cases of pectus excavatum (PE) and an open repair is usually favored. Our aim is to describe a case of a patient with an extremely severe PE that underwent a minimally invasive approach. Case report An 8-year-old girl with severe sternum depression was assessed. She had a history of exercise intolerance, nocturnal dyspnea, fatigue, and shortness of breath. Chest computed tomography showed that sternum depression was posterior to the anterior vertebral column; therefore, Haller and correction index could not be measured. Spirometry indicated an obstructive ventilation pattern (forced expiratory volume in 1 second = 74.4%), and echocardiogram revealed a dilated inferior vena cava, mitral valve prolapse with normal ventricular function. After multidisciplinary committee evaluation, a MIRPE approach was performed. All symptoms had disappeared at the 3-month postoperative follow-up; the desired sternum shape was achieved and normalization of cardiopulmonary function was observed. The Nuss bars were removed after a 2-year period. After 18-month follow-up, the patient can carry out normal exercise and is content with the cosmetic result. Conclusion Nuss procedure is feasible in our 8-year-old patient. In this case, both the Haller and correction index were not useful to assess the severity of PE. Therefore, under these circumstances, other radiologic parameters have to be taken into consideration for patient evaluation.

Using Tissue Expanders as a Choice for the Treatment of Congenital Facial Nevus in the Young Child.

OBJECTIVE: One of the principal objectives in treatment of facial nevus is to minimize psychological damage and encourage the child's schooling by the best possible cosmetic result. There are several therapeutic techniques: grafts, flaps, dermal regenerator, and tissue expanders. MATERIALS AND METHODS: We reviewed 10 patients with facial nevus higher than 10 cm treated in the past 8 years. Our treatment protocol includes serial expander implant to remove everything that does not involve the eyelid and nasal pyramid. Ten patients were included, between 8 and 36 months of age. A median of 4 (2-6) surgeries were conducted, and the number of implanted expanders was 1 to 3 in each session. There were only minor complications in two patients, infection that responded to antibiotic therapy and minimal dehiscence of incision forcing resuturing. The median follow-up was 1.6 (1.3-3.4) years. CONCLUSION: Tissue expansion has become in recent years the treatment of choice for facial nevus in children, obtaining the best aesthetic result because the defect is covered with similar characteristics in color, texture, and relief skin. It is essential that the reconstruction is done by specialized units and we recommend complete surgical excision before starting school.

Surgical Emergencies in Intestinal Venous Malformations.

BACKGROUND: Venous malformations (VMs) can occur in any part of the body; however, the gastrointestinal tract is a frequent location. These are usually asymptomatic, thus, representing a challenge to diagnosis. Intestinal location of VMs can be associated with severe complications that ultimately require an emergency surgery. Our aim was to analyze all patients with an intestinal VM with special focus on those who required emergency surgery. MATERIALS AND METHODS: A retrospective study of patients presenting complication caused by intestinal VM was performed. Clinical records, associated anomalies, physical findings, and treatment were assessed. RESULTS: Twenty-one patients had a diagnosis of intestinal VM, 16 (76%) were associated to blue rubber bleb nevus syndrome (BRBNS) and 5 (24%) were isolated. Only four (19%) of the total cases presented an episode of acute abdomen with hemodynamic instability that required an emergency surgery. Findings included two gastrointestinal bleedings, one volvulus, and one intussusception of small bowel. All patients underwent an uneventful recovery and are presently doing well. CONCLUSION: Intestinal VM can be challenging to diagnose in emergency situations, such as gastrointestinal situation or acute abdomen. The complications associated with it must be kept in mind, regardless of its low incidence.

Advantages of Cardiac Magnetic Resonance Imaging for Severe Pectus Excavatum Assessment in Children.

AIM: Cardiac function can be impaired in patients with pectus excavatum (PE) due to anatomic and dynamic compression of the heart. Efforts for radiation dose reduction in imaging techniques have allowed cardiac magnetic resonance imaging (c-MRI) to play a major role in PE assessment. The aim of our study is to describe the findings of c-MRI 18 months after we changed the PE assessment protocol from chest computed tomography to c-MRI. PATIENTS AND METHODS: Since mid-2015 all patients with severe PE (suspected Haller's index > 3.2) were assessed with inspiratory and expiratory c-MRI. A retrospective analysis of these patients was performed evaluating the following parameters: (1) Radiologic PE indexes (Haller's, correction and asymmetry indexes; and sternal rotation) and (2) cardiac function (including left and right ventricle ejection fraction). RESULTS: A total of 20 patients met the inclusion criteria. Dynamic imaging showed a significant difference during inspiration and expiration of the Haller's index 3.85 (range: 3.17-7.3) versus 5.10 (range: 3.85-10.8) (p < 0.05), and correction index (26.86% vs. 36.84%, respectively, p < 0.05). The sternal rotation was 14.5 (range: 0-36). c-MRI analysis disclosed a right ventricle ejection fraction of 50.3%. (normal range: 61% [54-71%]). Echocardiographic imaging underestimated the functional repercussion of PE in all patients. CONCLUSION: Initial results show that PE assessment by c-MRI allows a radiation-free image of the chest wall deformity during the entire breathing process. Also, it permitted the evaluation of the influence of sternum impingement on cardiac function. These findings allowed us a careful surgical evaluation and preoperative planning.

Pitfalls in Diagnosis of Early-Onset Inflammatory Bowel Disease.

AIM: The onset of inflammatory bowel disease (IBD) in patients younger than the age of 5 years is rare. Moreover, when there is exclusive colonic inflammation, diagnosis can be challenging. Our aim was to describe the difficulties and pitfalls in the diagnosis of early-onset IBD (eoIBD) and their repercussions in treatment decisions. PATIENTS AND METHODS: Patients with eoIBD (Crohn's disease [CD], ulcerative, and unclassified colitis) treated at our center between 1990 and 2016 were studied retrospectively. Demographic, clinical, medical, and surgical treatment data were analyzed. RESULTS: A total of 19 patients were diagnosed with eoIBD at 21 (1-46) months of age. Bloody diarrhea, growth failure, and abdominal pain were present in 90, 42, and 16%, respectively. After 9 (1-62) months from the onset, patients were classified as ulcerative colitis (nine), CD (two), and unclassified colitis (eight). Unresponsiveness to medical treatment was observed in 10 and prompted surgical assessment. A partial colectomy was performed in one, and nine underwent a total colectomy (one end stoma and eight ileoanal anastomosis [IAA]). At least one surgical complication occurred in 80% and ultimately six patients with an IAA required an end stoma. Overtime, final diagnosis of 5 out of the 10 surgical patients changed due to biopsy findings, unresponsiveness to medical treatment, or extraintestinal and perianal manifestations. After a 12-year (1-22) follow-up, 57.9% of the diagnoses of all patients were modified. CONCLUSION: EoIBD poses a challenge due to ambiguous presentation and absence of specific diagnostic tests. Surgical evaluation is often needed and surgeons must be mindful of possible initial misdiagnosis, in addition to short- and long-term outcomes before deciding aggressive surgical measures as well as intestinal reconstruction.

Penile Reconstruction with Skin Grafts and Dermal Matrices: Indications and Management.

Introduction The penis eventually needs specific cutaneous coverage in the context of reconstructive procedures following trauma or congenital anomalies. Local flaps are the first choice but are not always available after multiple previous procedures. In these cases, skin graft and dermal matrices should be considered. Materials and Methods This study was a retrospective review of the past 4 years of four patients with severe loss of penile shaft skin who underwent skin reconstruction. Dermal matrices and skin grafts were utilized. Dermal matrices were placed for a median of 4.5 weeks (3.0-6.0 weeks). The skin graft was harvested from the inner thigh region for split-thickness skin graft (STSG) and the inguinal region for full-thickness skin graft (FTSG). Results The four patients presented with complete loss of skin in the penile shaft. One patient had a vesical exstrophy, one had a buried penis with only one corpus cavernosum, one had a wide congenital lymphedema of the genitalia, and one had a lack of skin following circumcision at home. They underwent reconstruction with three patients undergoing split-thickness skin graft; two dermal matrices; and one full-thickness graft, respectively, thereby achieving a good cosmetic and functional result. There were no complications, and all the patients successfully accepted the graft. Conclusion Dermal matrices and skin grafts may serve as effective tools in the management of severe penile skin defects unable to be covered with local flaps.

Pancreatic Kaposiform Hemangioendothelioma Not Responding to Sirolimus.

Background Kaposiform hemangioendothelioma (KHE) is a vascular tumor frequently associated with Kasabach-Merritt phenomenon (KMP), characterized by severe thrombocytopenia and consumptive coagulopathy. Visceral involvement in KHE is rare. In our recent experience, sirolimus has shown to be an effective treatment in cutaneous KHE, becoming indeed the treatment of choice in KMP. We report a case of pancreatic KHE associated with KMP and refractory to sirolimus. Case Report A 4-month-old infant is referred for obstructive jaundice (10 mg/dL conjugated bilirubin) secondary to vascular pancreatic tumor. Magnetic resonance (MR) and immunohistochemistry were compatible with KHE, but the tumor was considered unresectable. We initiated sirolimus (0.8 mg/m 2 /12 h) to treat KMP, and interventional radiology was performed for percutaneous biliary diversion. This procedure prompted KMP (platelets: 51,000/µL). Sirolimus treatment for 7 days showed no effect; therefore, we started our VAT protocol (vincristine/aspirine/ticlopidin) with great response after 10 days (platelets: 3,70,000/µL). Three months later, percutaneous biliary diversion was replaced by a biliary stent. The tumor disappeared leaving fibrosis and dilatation of biliary tract needing hepaticojejunostomy 6 months later. Discussion It is difficult to establish protocols for an unusual presentation of a tumor with different targets. This is a reason collaborative multicenter studies should be performed. Management of obstructive jaundice secondary to a tumor that usually regresses in 10 years is an added challenge; therefore, the management should be led by a multidisciplinary team. Sirolimus treatment in cutaneous KHE has been described as successful in the literature, as well as in our own experience; however, it failed in our first patient with visceral KHE. We need to investigate the different response to pharmacological agents in tumors with similar histopathology, but with visceral involvement.

Ultrashort Bowel Syndrome Outcome in Children Treated in a Multidisciplinary Intestinal Rehabilitation Unit.

Aim Short bowel syndrome (SBS) is the leading cause of intestinal failure (IF) in the pediatric population. Our aim was to review long-term outcome of ultrashort bowel syndrome (USBS) in an Intestinal Rehabilitation Unit (IRU). Patients and Methods Retrospective study of patients with USBS (defined as < 10 cm of remnant small bowel) treated between 2000 and 2015. Demographic data, clinical, and treatment variables including parenteral nutrition (PN), surgical techniques, and intestinal transplantation (IT) were analyzed. Results Out of 250 children, 30 referred to the IRU met inclusion criteria. Upon first assessment, patients had a median age of 3 (1-217) months and had undergone 3 (1-6) previous laparotomies that left 5 (0-9) cm of remnant small bowel. The main cause of USBS was neonatal midgut volvulus (50%). Follow-up was 28 (4-175) months. Advanced IF-associated liver disease (IFALD) was documented in 63%. None of the patients achieved digestive autonomy and was consequently considered for IT. One patient was excluded, five died before IT, and three are still on the waiting list. Six patients received an isolated IT, 6 a combined liver IT, and 18 a multivisceral graft. Digestive autonomy was achieved in 71% after 31 (14-715) days after IT and currently 62% are alive and off total PN. A significant drop in IFALD progression prior to IT was observed with the introduction of new lipid emulsions in 2010 (SMOF or Soy oil MCT (mid-chain triglycerides) Olive oil Fish oil). Conclusion A multidisciplinary IRU including an IT program offers a comprehensive approach for patients with IF and is crucial to improve survival rate of USBS. New PN lipid emulsions had an impact on IFALD progression and may eventually reduce overall mortality.

Sirolimus in the Treatment of Vascular Anomalies.

Aim of the Study mTOR inhibitors are showing promising results in the management of vascular anomalies. Although current controlled trials remain to be completed, many individual experiences are being published. We present our series of children with complex vascular anomalies treated with sirolimus. Patients and Methods A retrospective review of 41 patients treated with sirolimus between January 2011 and December 2015 was performed: 15% (n = 6) had vascular tumors (4 kaposiform hemangioendotheliomas, 1 PTEN) and 85% (n = 35) had malformations (13 generalized lymphatic anomalies/Gorham-Stout diseases [GSD], 1 kaposiform lymphangiomatosis [KLA], 11 large lymphatic malformations (LMs) in critical areas, 2 lymphedemas, 4 venous malformations, and 4 aggressive arteriovenous malformations [AVM]). Several variables were collected: type of vascular anomaly, duration of treatment, dosage, response, and secondary effects. Results There was a female predominance (1.4:1). All patients received sirolimus, at initial dosage of 0.8 mg/m2/12 hour. Overall successful response rate was 80.4% of cases, presenting improvement in radiologic imaging and reduction of symptoms, at a median time of 10 weeks. Patients showing no response included four AVMs, one GSD, one LM, one KLA, and one unknown tumor. Sirolimus was well tolerated, even in neonates, with insignificant side effects. No patients had complete resolution and no patients worsened on therapy. Thirty patients remain under treatment at the present moment. Conclusion Sirolimus has become a new therapeutic option for patients with vascular anomalies that do not respond to other treatments. Unfortunately, important questions as what is the most appropriate dosage and for how long should the patient be treated remain unanswered. An international registry followed by customized controlled trials is mandatory to clarify the future of this therapy.

Hepatocellular Carcinoma: Referral to a Transplantation Unit.

Aim Hepatocellular carcinoma (HCC), although being infrequent, is the second-most common primary hepatic malignancy in children, after hepatoblastoma (HB). The prognosis is very poor. We present our series of children with HCC referred to our transplant unit to be assessed as candidates for liver transplantation (LT). Methods A retrospective review of HCCs referred to our transplant unit in the past 20 years (1994-2015) was performed. Age at diagnosis, disease-free survival, location of recurrence, initial treatment, secondary treatment, and mortality were noted. Main Results Ten patients (8 boys, 2 girls) met the inclusion criteria. Median age at diagnosis was 11.5 years (0.5-14). HCC was associated with tyrosinemia in two patients, while the tumor developed in absence of previous liver disease in eight. Seven children attempted tumor resection earlier elsewhere. LT was not considered suitable in six patients due to extrahepatic tumor extension and finally it was performed in four (two with tyrosinemia and two with "de novo" HCC). Only one of the transplants was primary, and the other three were performed as rescue therapy. After 78 (66-90) months of follow-up, the two patients with tyrosinemia remain alive and disease free, while the other two had distant relapses, 35 and 37 months after LT, respectively, and finally died due to tumor progression. Conclusions HCC is a rare, very aggressive tumor in children who has a very poor prognosis. Our results suggest the need for new strategies. Early referral of all cases to highly specialized centers with a liver transplant unit and perhaps a more liberal use of LT, even for selected, apparently resectable cases, are possible options.

Surgical Rehabilitation Techniques in Children with Poor Prognosis Short Bowel Syndrome.

Intestinal failure (IF) requires a multidisciplinary management based on nutritional support, surgical and medical rehabilitation, and transplantation. The aim of this study is to review our experience with surgical rehabilitation techniques (SRTs: enteroplasty, Bianchi, Serial Transverse Enteroplasty Procedure [STEP]) in patients with short bowel syndrome (SBS) and poor prognosis due to complex abdominal pathology. We performed a single-center retrospective study of patients with IF evaluated for intestinal transplantation in the Intestinal Rehabilitation Unit who underwent an SRT. Nonparametric tests were used for statistical analysis.A total of 205 patients (107 males/98 females) with mean age of 25 ± 7 months were assessed for IF. A total of 433 laparotomies were performed on 130 patients including intestinal resection, enteroplasties, adhesiolysis, and transit reconstruction. SRT were performed in 22 patients: 12 enteroplasties, 8 STEPs, and 4 Bianchi procedures. All patients were parenteral nutrition (PN) dependent with different stages of liver disease: mild (13), moderate (5), and severe (4). The adaptation rate for patients who underwent enteroplasty, STEP, and Bianchi were 70, 63, and 25%, respectively, although the techniques are not comparable. Overall, intestinal adaptation was achieved in nine (41%) patients, and four (18%) patients showed significant reduction of PN needs. One child did not respond to SRT and did not meet transplantation criteria. The remaining eight (36%) patients were included on the waiting list for transplant: four were transplanted, two are still on the waiting list, and two died. Better outcomes were observed in milder cases of liver disease (mild 77%, moderate 40%, severe 25%) (p < 0.05). Conversely, a trend toward a poorer outcome was observed in cases with ultrashort bowel (p > 0.05). One patient required reoperation after a Bianchi procedure due to intestinal ischemia and six needed further re-STEP or adhesiolysis procedure several months later. The median follow-up was 62 (3-135) months. Overall mortality was 19%, and was due to end-stage liver disease and/or central venous catheter-related sepsis. SRT led to intestinal adaptation in a significant number of patients with poor prognosis SBS referred for intestinal transplantation. However, SRT requires a multidisciplinary evaluation and should be attempted only in suitable cases. Careful assessment and optimal surgical timing is crucial to obtain a favorable outcome.