First case report of multivisceral transplant from a deceased cardiac death donor.

The current shortage of pediatric multivisceral donors accounts for the long time and mortality on the waiting list of pediatric patients. The use of donors after cardiac death, especially after the outbreak of normothermic regional perfusion, has increased in recent years for all solid organs except the intestine, mainly because of its higher susceptibility to ischemia-reperfusion injury. We present the first literature case of multivisceral donors after cardiac death transplantation in a 13-month-old recipient from a 2.5-month-old donor. Once exitus was certified, an extracorporeal membrane oxygenation circuit was established, cannulating the aorta and infrarenal vena cava, while the supra-aortic branches were clamped. The abdominal organs completely recovered from ischemia through normothermic regional perfusion (extracorporeal membrane oxygenation initially and beating heart later). After perfusion with the preservation solution, the multivisceral graft was uneventfully implanted. Two months later, the patient was discharged without any complications. This case demonstrates the possibility of reducing the time spent on the waiting list for these patients.

Delayed introduction of sirolimus in paediatric intestinal transplant recipients: indications and long-term benefits.

To review our experience using sirolimus in a single centre paediatric intestinal transplantation cohort. Intestinal transplant patients with more than 3 months follow-up were divided into two groups according to their immunosuppression regimen: tacrolimus, (TAC group, n = 45 grafts) or sirolimus (SRL group, n = 38 grafts), which included those partially or completely converted from tacrolimus to sirolimus. The indications to switch were tacrolimus side effects and immunological complications. Survival and complications were retrospectively analysed comparing both groups. SRL was introduced 9 months (0 months-16.9 years) after transplant. The main cause for conversion was worsening renal function (45%), followed by haemolytic anaemia (21%) and graft-versus-host-disease (16%). Both groups showed a similar overall patient/graft survival (P = 0.76/0.08) and occurrence of rejection (24%/17%, P = 0.36). Immunological complications did not recur after conversion. Renal function significantly improved in most SRL patients. After a median follow-up of 65.17 months, 28/46 survivors were on SRL, 26 with monotherapy, with good graft function. Over one-third of our patients eventually required SRL conversion that allowed to improve their kidney function and immunological events, without entailing additional complications or survival impairment. Further trials are warranted to clarify the potential improvement of the standard tacrolimus maintenance by sirolimus conversion or addition.

Nuevas mutaciones asociadas a la enfermedad de Hirschsprung / New mutations associated with Hirschsprung disease

INTRODUCCIÓN: La enfermedad de Hirschsprung está causada por un defecto de la migración celular desde la cresta neural hasta el tracto gastrointestinal, resultando en la ausencia de neuronas en el plexo mientérico. Mutaciones en varios genes han sido asociadas a la enfermedad de Hirschsprung, la mayoría afectando a la vía del protooncogén RET. El objetivo de este estudio es la descripción de mutaciones tanto descritas como nuevas asociadas a la enfermedad de Hirschsprung, así como sus implicaciones pronósticas. MATERIAL Y MÉTODOS: Análisis retrospectivo de pacientes con enfermedad de Hirschsprung y resultados genéticos positivos desde 1970 hasta 2013. RESULTADOS: En la serie global, 21 pacientes tenían resultados genéticos positivos, 17 de ellos afectando la vía del protooncogén RET. Dos de las mutaciones son nuevas y no han sido previamente descritas en la literatura médica. CONCLUSIONES: El protooncogén RET es el principal gen asociado a la enfermedad de Hirschsprung. Todavía hay múltiples mutaciones desconocidas relacionadas con la patogenia de la enfermedad. El estudio genético del gen RET debe formar parte del estudio diagnóstico de todos los pacientes con enfermedad de Hirschsprung, así como de sus familiares de primer grado en caso de que las mutaciones estén asociadas a los síndromes MEN2A y MEN2B

INTRODUCTION: Hirschsprung disease is caused by an impairment in cell migration from the neural crest to the gastrointestinal tract, resulting in an absence of neurons in the myenteric plexus. Many mutations in several genes have been associated to Hirschsprung disease; most of them affecting the RET proto-oncogen pathway. The purpose of this study is the description of novel and known mutations in genes associated to Hirschsprung disease and their prognostic implications. MATERIAL AND METHODS: Retrospective analysis of patients with Hirschsprung disease and positive genetic studies evaluated from 1970 to 2013. RESULTS: We found 21 positive genetic studies in the global series, 17 of them involving the RET proto-oncogene. Two of the mutations are novel and they have not been reported in the medical literature. CONCLUSIONS: The RET protooncogene is the main gene associated with Hirschsprung disease. There are still multiple unknown mutations related to the pathogenesis of the disease. The study of this gene must be part of the work-up of all patients with Hirschsprung disease, as well as their first degree relatives if the mutation is associated with MEN2A and MEN2B syndromes

Fallo intestinal en adultos y niños / No disponible

El fallo intestinal (FI) es poco frecuente, pero representa una de las patologías de manejo médico-quirúrgico más complejo tanto en adultos como en niños. El tratamiento de primera línea sigue siendo la nutrición parenteral (NP). No obstante, en las últimas décadas, con el auge de los equipos multidisciplinares y el desarrollo de las nuevas terapias hormonales, como primer abordaje no sintomático del FI se abren nuevas alternativas en el campo de la rehabilitación intestinal

No disponible

Intestinal failure in adults and children.

Intestinal failure (IF) is rare, but it represents one of the most complex medical-surgical management pathologies, both in adults and children. The first-line treatment is parenteral nutrition (PN). However, new alternatives in the field of intestinal rehabilitation have opened up in recent decades, with the rise of multidisciplinary teams and the development of new hormone therapies as the first non-symptomatic approach to IF.

[New mutations associated with Hirschsprung disease]. / Nuevas mutaciones asociadas a la enfermedad de Hirschsprung.

INTRODUCTION: Hirschsprung disease is caused by an impairment in cell migration from the neural crest to the gastrointestinal tract, resulting in an absence of neurons in the myenteric plexus. Many mutations in several genes have been associated to Hirschsprung disease; most of them affecting the RET proto-oncogen pathway. The purpose of this study is the description of novel and known mutations in genes associated to Hirschsprung disease and their prognostic implications. MATERIAL AND METHODS: Retrospective analysis of patients with Hirschsprung disease and positive genetic studies evaluated from 1970 to 2013. RESULTS: We found 21 positive genetic studies in the global series, 17 of them involving the RET proto-oncogene. Two of the mutations are novel and they have not been reported in the medical literature. CONCLUSIONS: The RET protooncogene is the main gene associated with Hirschsprung disease. There are still multiple unknown mutations related to the pathogenesis of the disease. The study of this gene must be part of the work-up of all patients with Hirschsprung disease, as well as their first degree relatives if the mutation is associated with MEN2A and MEN2B syndromes.

New mutations associated with Hirschsprung disease.

INTRODUCTION: Hirschsprung Disease is caused by an impairment in cell migration from the neural crest to the gastrointestinal tract, resulting in an absence of neurons in the myenteric plexus. Many mutations in several genes have been associated to Hirschsprung disease; most of them affecting the RET proto-oncogen pathway. The purpose of this study is the description of novel and known mutations in genes associated to Hirschsprung disease and their prognostic implications. MATERIAL AND METHODS: Retrospective analysis of patients with Hirschsprung disease and positive genetic studies evaluated from 1970 to 2013. RESULTS: We found 21 positive genetic studies in the global series, 17 of them involving the RET proto-oncogene: Two of the mutations are novel and they have not been reported in the medical literature. CONCLUSIONS: The RET protooncogene is the main gene associated with Hirschsprung disease. There are still multiple unknown mutations related to the pathogenesis of the disease. The study of this gene must be part of the work-up of all patients with Hirschsprung disease, as well as their first degree relatives if the mutation is associated with MEN2A and MEN2B syndromes.

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.

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.

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.

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.

Ulcerative ileitis after proctocolectomy in children: a complication of ulcerative colitis or a disease in itself after ileoanal pullthrough?

Ulcerative ileitis (UI) after restorative proctocolectomy (RPC) and ileoanal pullthrough procedure (IAPP) is a rare condition described as inflammation of the terminal ileum proximal to the anastomosis. It is mostly observed in ulcerative colitis (UC) and is designated as prepouch ileitis; sometimes with pouchitis, but not necessarily all the time. Its incidence in adults is less than 5%, but the information in children is limited. Pathogenesis is unknown, it has been considered as a disease by itself, independently on the underlying disease. It involves additional morbidity and impacts negatively on quality of life because there is no effective treatment so far. This study aims to review the cases of UI in our institution and to summarize their clinical features and management. A descriptive retrospective study of UI patients between 1990 and 2013 was conducted. Children with RPC and IAPP with clinical and pathological diagnosis of UI were included. Sociodemographic and clinical data, diagnostic, and therapeutic procedures were collected through medical records. UI was diagnosed in eight patients (six males) after RCP; four had UC, two had total colonic aganglionosis (TCA), and two had complex anorectal malformations (one cloacal exstrophy and one omphalopagus twin with bladder exstrophy). Different surgical techniques were used in each case: UC patients underwent IAPP, 50% with J-reservoir and 50% without it; posterior sagittal pullthrough was performed in those with anorectal malformations; one Soave and one Swenson procedure in those with TCA. In summary, three patients had reservoir and five did not. The median age at the IAPP and ostomy closure was 6 years (range 2 months-8 years) and 7 years (range 6 months-9 years), respectively. UI was found after a median of 23 months (range 1-48 months), all of them after digestive tract continuity was reestablished. The leading symptom was lower GI or gastrointestinal, both of them bleeding with abdominal pain, followed by abdominopelvic abscesses and malabsorption with weight loss. Pathology showed nonspecific inflammatory changes. Treatment included antibiotics, corticosteroids and/or immunosuppressive agents with variable response, requiring a new ileostomy in five cases. Ileitis disappeared after diversion. In our experience, UI after colectomy is not an exclusive feature of UC as has been previously described. Although it appears with pouchitis, the presence of a reservoir is not a must, suggesting that this is a different entity. No medical treatment has been really effective in our patients and diversion above this level stopped the process. Further studies on its pathogenesis and treatment strategies are necessary.

Ganglioneuroma: to operate or not to operate.

INTRODUCTION: Ganglioneuroma (GN) is a benign, differentiated variety of neurogenic tumor. It is often asymptomatic and may be diagnosed by serendipity. Surgical removal is the treatment of choice. However, it has been suggested that postoperative complications and sequelae might outweigh the benefits of this approach. The purpose of the present study was to examine these issues in a large experience of neural tumors. METHODS: Patients treated between 1992 and 2012 were retrospectively reviewed. Modern imaging, measurement of catecholamine metabolite excretion and metaiodobenzylguanidine were used for workup. Surgical treatment aimed at complete resection. Complications and sequelae were recorded. Literature was searched for regrowth or malignant transformation of GN. RESULTS: Of 227 patients with neural tumors, 24 were GN patients (12 abdominal, 11 thoracic and 1 cervical with 8 dumbbell extensions). Six children were symptomatic (three with abdominal pain and mass, one with stridor or dysphonia, and one each with anisocoria and opsomyoclonus). However, 18 (75%) were asymptomatic and the diagnosis was incidental. Several tumors were large and involved more than one body space. There were no neurologic symptoms in eight cases with dumbbell extension. Complete resection was achieved in 20 children (83%) whereas gross residual was left in four. Postoperative complications were: Horner syndrome (3 patients), mild scoliosis (1 patient), adhesive bowel obstruction (1 patient) and acute urinary retention (1 patient). There was no evidence of either regrowth or malignant behavior in residual masses left in place after follow-up of 84 (1-194) months. CONCLUSIONS: There were a limited number of general minor complications in this series that did not include cases of regrowth or malignant transformation. However, these unfavorable events were occasionally reported in the literature. Since diagnosis of GN cannot be ascertained before removal of the mass, this should remain the aim of the treatment, although limiting the chances of complications to a minimum even if incomplete resection is the price to pay. Nonoperative attitudes should not be recommended in all cases, but they are certainly justified in some.