[Laparoscopy in chronic abdominal pain in children]. / La laparoscopia en el dolor abdominal crónico en la infancia.

UNLABELLED: The recurrent chronic abdominal pain (RAP) is one of the most usual pathologies in pediatrics. It may appear in the form of periodical or continuous sharp crisis. In order to be accepted as chronic, the presence of this pain must last at least 3 months. In many of the reference publications, only between 5 and 1% of the cases are considered to have an organic ethiology and the rest are labelled as functional processes of psychological origin. The reason for our communication is to show our experience on 304 RAP patients from 1995 to 2001. We also want to highlight the usefulness of laparoscopy in order to diagnose and treat 14.45% (44) of cases of this group of patients. MATERIAL AND METHODOLOGY: 304 patients between 5 and 14 years old were studied from 1995 to 2001. We followed a protocol of: medical and personal medical record, specific anamnesis for RAP, detailed description of the diet and intestinal habits, physical exploration. Laboratory: 1) blood analysis, hepatic profile, glucose, cholesterol, creatinine, amylase, 2) urine sediment and may be urine culture, 3) faeces analysis and 4) vaginal flow analysis. Image diagnosis is: simple abdomen radiography, ultrasonography and intestinal Rx. Guided and specific determinations: spired urea test, gastric chemism, lactose test, gastroscopy and biopsy, colonoscopy and biopsy, laparoscopy. RESULTS: In short, we can say: 74 patients (23.4%) come with inappropiate feeding diets, 31 (10.1%) with helicobacter pilori, 20 (6.5%) with adenoids, pharynx and pharyngeal processes, the same figure from gynaecologic origin, 18 (5.9%) from psychological origin, and in 44 cases (14.45%) laparoscopy was indicated. CONCLUSIONS: The anatomopathological study in the cases in which we carried out laparoscopic appendicectomy does not allow us to accept the symptoms of chronic appendicitis. The exploratory laparoscopy and the appendectomy have meant benefits for the solution to this pathology in 14.45% of patients. It is essential to carry out a long-term follow-up, at least 12 months, to be sure RAP is cured. We must carry on looking for aetiological cause of RAP.

[Surgical treatment of a pheocromocytoma bilateral in a 5 year old patient with the von Hippel-Lindau disease]. / Tratamiento quirúrgico de un feocromocitoma bilateral en un paciente de 5 años con enfermedad de von Hippel-Lindau.

INTRODUCTION: The disease of Von Hippel Lindau (VHL) is hereditary and causes a predisposition to the development of tumours. Organs such as the cerebellum, the pancreas, the kidney, the suprarenal glands and the retina are more usually affected by this disease. CLINICAL CASE: We present the case of a 5-year-old patient who suffers from asiymptomatic high blood pressure. In the family antecedents, it is relevant the case of the father, with pheocromocytoma bilateral, which led us to carry out a genetic study of his two sons. Our patient, the younger; presented a mutation of the VHL gene in the short arm of the chromosome 3. In one of the periodic controls, it could be detected high blood pressure of 160/100 mm. Hg, clinically asymptomatic. The other child did not present a genetic mutation and has no disease. The presence of high catecholamines, the detection of a 3 cm left suprarenal mass through the ecography, the TAC that did not show a right suprarenal pathology and the MBIG scintigraphy confirmed the diagnostic of pheocromocytoma. The RNM showed another 0.8-cm mass which confirmed a pheocromocytoma bilateral. We started the treatment against high blood pressure with fenoxibenzamine and diltiazem, and we controlled this problem. We also prepared the pre-and-post operation anesthetic strategy, which is so important for the surgical success. The operation started by a laparoscopic, we made left adrenalectomy and we had to reconvert to laparotomy to make partial right adrenalectomy. Six months after the operation, the patient is free from symptomatology and follows a treatment with glucocorticoides with smaller and smaller doses. COMMENTS: The case is exceptional because it embodies the following characteristics: early diagnostic age, family affectation and discovery of asymptomatic high blood pressure. It needed an appropriate preanesthetic and anesthetic preparation, which gave way to an operation without complications. The postoperation was also stable and presented no complications.

Tratamiento quirúrgico de un feocromocitoma bilateral en un paciente de 5 años con enfermedad de Von Hippel-Lindau / Surgical treatment of a pheocromocytoma bilateral in a 5 year old patient with the Von Hippel-Lindau disease

Introducción. La enfermedad de Von Hippel Lindau (VHL) es un trastorno hereditario que condiciona una predisposición al desarrollo de tumoraciones. Cerebelo, páncreas, riñón glándulas suprarrenales y retina son los órganos que más frecuentemente se afectan. Caso clínico. Presentamos el caso de un paciente de 5 años de edad con una hipertensión arterial asintomática, en los antecedentes familiares destaca el padre con feocromocitoma bilateral por lo que se realizó estudio genético de sus 2 hijos. Nuestro paciente, el menor de ellos, presentaba una mutación del gen VHL en el brazo corto del cromosoma 3, y en uno dé los controles periódicos se detecto una hipertensión de 160/100 mm. Hg clínicamente asintomática. El hermano no presentó mutación genética y está libre de enfermedad. La presencia en orina de catecolaminas elevadas, la detección de una masa suprarrenal izquierda de unos 3 cm de diámetro por la ecografia, (la TAC no mostró patología de la suprerrenal derecha) y la gamamgrafía con metaiodobencilguanidina (MIBG) confirmaron el diagnóstico de feocromocitoma. La RNM mostró otra masa de 0.8 cm. de diámetro confirmando un feocromocitma bilateral. Se inició tratamiento antihipertensivo con fenoxibenzamina y diltiazem controlandose la hipertensión. Se preparó la estrategia anestésica pre y peroperatoria fundamental para el éxito quirúrgico. La intervención se inició por vía laparoscópica se hizo la adrenalectomía izquierda, se reconvirtió a laparotomia para realizar adrenalectomía parcial derecha. A los 10 meses de la intervención el paciente está libre de sintomatología y sigue un tratamiento con glucocorticoides con dosis que se van reduciendo. Comentarios. El caso es excepcional porque reune las siguientes características: edad de diagnóstico precoz, la afectación familiar, hallazgo de una hipertensión arterial asintomática. Requirió una adecuada preparación preanestésica y anestésica, que propició una intervención sin complicaciones. Con un postoperatorio estable (AU)

[Intestinal myopathy in Steinert's disease]. / Miopatía intestinal en la enfermedad de Steinert.

The myothonic dystrophy or Steinert's disease is a congenital, autosomal, dominant disorder which seriously affects the striated muscle and also to a certain extent, several organs and systems and on rare occasions, the intestinal smooth muscle. In the case, we treated a four years old girl in whom Steinert's disease was diagnosed when she was born and who developed the characteristics of severe constipation after a few months of life. The ano-rectal manometry showed a paradoxical reaction of external Sphincter with a normal inhibitory reflex. The rectal biopsy revelated a miophathy which affected the muscularis propia with the normal neuronal innervation. The X-ray studies showed that motility disorder was stopped in the distal area of the left colon. A colostomy in the healthy zone worked extremely well. Six months later, the normal colon was brought down retro-rectal. Only a partial incontinence remained in the external sphincter caused by Steinert's disease. The interest of this case lies in the pathological association, striade muscle and smooth muscle, in such an early age of life. It is a new contribution to the complex chapter of the intestinal pseudo-obstruction.

[Usefulness of transrectal ultrasonography in the diagnosis of anomalies of intersexual conditions]. / La utilidad de la ecografía transrectal en el diagnóstico de las anomalías de los estados intersexuales.

INTRODUCTION: Between the external genital exploration and the internal genital direct vision, through laparoscopia, there is a black point which is the pelvic floor; we have to know whether there is a vagina or not, what it is like and where it arrives at. The reason for this research is to present our experience with the transrectal ecography, which allows us a very good exploration of the pelvic floor. MATERIAL AND METHODS: We present 6 patients, the youngest is 16 months old and the oldest is 19 years old, who have a diagnostic of 3 congenital adrenal hyperplasia (HSC), 2 gonadal dysgenesis and 1 vaginal agenesis (S. Rokitanski). Under sedation, we carried out a transrectal ecography with Aloka SSD650 ecograph and 7.5 MHz vaginal scanner. Ultrasone. RESULTS: In case of HSC (16 months old), the transrectal ecography showed the vaginal arrival at the urethra and we were able to measure the distance from the external sphincter. In the other two HSC, which had been surgically corrected, the transrectal ecography clearly showed the vagina (length and calibre). In the two gonadal dysgenesis (two 11-and-19-year-old sisters, the first of whom had undergone vulvo-vaginoplasty, we appreciated the length of the vagina and, in the case of the sister with a relatively normal vagina, we confirmed the presence of the vagina connected to the uterus. In the vaginal agenesis, in which a neovagina with amnion membrane had been carried out, which, in its turn, ended in a situation of hematometra due to a stenosis, the transrectal ecography was really helpful to obtain vaginal dilatations. CONCLUSIONS: Ecography is an easily available technique and provides both through and detailed information of the genital structures going through the pelvic floor, a zone which is otherwise difficult to explore. It was done under sedation for the patient's age and idiosyncrasy. The experience has just started but we are sure that in the future it will replace the genitograma.

[Radio-guided surgery with MIBG in a case of abdominal neuroblastoma]. / Cirugía radiodirigida con MIBG en un caso de neuroblastoma abdominal.

Radio-guided surgery is a new technique which can provide benefits for pediatric oncology, as in our patient with neuroblastoma in stage IV, that after a chemotherapy, surgical, radiotherapy and autologous bone marrow transplant treatment kept showing, at 2 years, residual tumoral fragments and increase of catecholamines. Radio-guided surgery allowed an easy and exact location. This technique decreases surgery time and let us find residual tumoral tissue no matter how small. With radio-guided surgery we can obtain higher survival and even cure the patient.

[The mixed gonadal dysgenesis. Diagnostic criteria and surgical treatment]. / Criterios diagnósticos y terapéuticos de la disgenesia gonadal mixta.

The Mixed Gonadal Dysgenesis represents the 7.6% of all our patients with intersexual states. We report 14 patients who present Mixed Gonadal Dysgenesis. We have studied: diagnosis age; external genitalia description; sex assigned in birth and if has changed; the karyotype; sex chromatine; hormonal study; genitography; internal genitalia and internal Mullerians ducts structures; gonadal histologycal study; surgical treatment and hormonal treatment. The results show that 50% of the cases presents a 46XY karyotype and the other 50% mosaicisme 45XO/46XY. The histological study is very distinctive. A vulvovagynoplasty and clitoroplasty was made in all the cases. Four patients must follow an hormonal treatment after reaching puberal age. Summing up, with patients having ambiguous genitalia we can suspect it consists of a Mixed Gonadal Dysgenesis. The diagnosis must be precocious. And this diagnosis will be based in an ambiguous genitalia, with a karyotype 46XY or 45XO/46XY, the persistence of the internal Müllerian duct structures, and the histological study with a dysgenetic testis. These patients should be raised as females because they can obtain a good morphological and functional development like a normal female.

Frequency of RET mutations in long- and short-segment Hirschsprung disease.

Hirschsprung disease, or congenital aganglionic megacolon, is a genetic disorder of neural crest development affecting 1:5,000 newborns. Mutations in the RET proto-oncogene, repeatedly identified in the heterozygous state in both long- and short-segment Hirschsprung patients, lead to loss of both transforming and differentiating capacities of the activated RET through a dominant negative effect when expressed in appropriate cellular systems. The approach of single-strand conformational polymorphism analysis established for all the 20 exons of the RET proto-oncogene, and previously used to screen for point mutations in Hirschsprung patients allowed us to identify seven additional mutations among 39 sporadic and familial cases of Hirschsprung disease (detection rate 18%). This relatively low efficiency in detecting mutations of RET in Hirschsprung patients cannot be accounted by the hypothesis of genetic heterogeneity, which is not supported by the results of linkage analysis in the pedigrees analyzed so far. Almost 74% of the point mutations in our series, as well as in other patient series, were identified among long segment patients, who represented only 25% of our patient population. The finding of a C620R substitution in a patient affected with total colonic aganglionosis confirms the involvement of this mutation in the pathogenesis of different phenotypes (i.e., medullary thyroid carcinoma and Hirschsprung). Finally the R313Q mutation identified for the first time in homozygosity in a child born of consanguineous parents is associated with the most severe Hirschsprung phenotype (total colonic aganglionosis with small bowel involvement).

[Transjugular portosystemic shunt. An alternative in recurrent hemorrhage in portal hypertension in children]. / La derivación porto sistémica transyugular. Una alternativa ante ciertas hemorragias recidivantes por hipertensión portal en el niño.

The transjugular portosystemic bypass is a new technique for treating portal hypertension of an intrahepatic nature by inserting a multipurpose catheter through the jugular vein and vena cava as far as the suprahepatic vein, with the aid of a puncture device it is fed via the hepatic parenchyma into a portal branch. The passageway thus created is distended with a balloon to permit the insertion of an extensible metal mesh prosthesis or "stent" to maintain a permeable connection. Our experiment was conducted on a paediatric patient suffering from mucoviscidosis with severe pulmonary and hepatic involvement and recurrent bleeding in an uncontrollable position. After inserting the bypass, portal pressure dropped sharply and the bleeding stopped, the patient being discharged on the sixth day. Two months after the bypass, the coronary vein of the stomach, the seat of the gastric varicose veins, was selectively occluded through the stent via the femoral vein. Six months after follow-up, the digestive bleeding has not recurred.

[Considerations regarding the treatment of non-aganglionic congenital intestinal neuropathies]. / Consideraciones al tratamiento de las neuropatías intestinales congénitas no agangliónicas.

Hyperganglionosis or neuronal intestinal dysplasias (NID) and hypoganglionosis (HO) are intestinal diseases of difficult diagnosis and treatment and diverse evolution, despite identical histologic findings. The aim of this study was to discuss the therapeutic problems derived from the patients differing clinical course. Retrospective review of 14 patients with regard to diagnosis, manometry and histology (hematoxylin-eosin, acetylcholinesterase activity, immunohistochemistry and Smith's silver stain) was done. Six patients presented intestinal occlusion or sub-occlusion from the first months of life with impeded oral feeding. Ileostomy was performed in 5 and total colectomy with anastomosis in 1. All patients required parenteral nutrition; cisapride was added in 2. Three died from sepsis (3 NID). Of the 3 survivors, 2 have ileostomies (2 NID) and the other ileo-rectal anastomosis (NID). Of the remaining patients, two presented aganglionism and the finding of proximal hyperganglionism occurred post-surgery. Surgery was repeated in one patient. The remaining 6 (1 HO, 5 NID) were diagnosed between 3 and 10 years of age because of constipation. Four are under treatment with cisapride and 2 required partial colic resection. No relationship can be established between histologic findings and clinical manifestations. In chronic clinical courses, treatment with cisapride and cleaning enemas should be tried first. Acute clinical pictures (occlusion-sub occlusion) should be treated by decompressive ileostomy. Partial colic resection may lead to new intestinal failure.

[Anorectal manometry in Hirschsprung disease]. / Manometria anorrectal en la enfermedad de Hirschsprung.

To show the absence of inhibitory reflex of the anus (R.I.A.) by ano-rectal manometry is an important sign in the diagnosis of Hirschsprung's disease. Between 1989 and 1991, a series of 199 patients was studied. The patients were divided into two groups: 0-1 month and 1 month to 50 years. Both groups were subdivided into cases with or without clinical and radiological suspicion of aganglionism. In this series, R.I.A. was absent in 88 patients and present in 111. Histologic study and follow-up confirmed the existence of aganglionism in 86 patients, hyperganglionism in 1, anal stenosis in 8, cystic fibrosis in 4 and 1 coeliac disease; the rest were megarecta to a greater or lesser degree. There was 1 false negative, signifying a percentage of error of 0.5%.

[The surgical treatment of gastroesophageal reflux (GER)]. / El tratamiento quirúrgico del reflujo gastroesofágico (R.G.E.).

From 1960 to 1990, a total of 2,476 instances of cardio-hiatal abnormalities were treated. The cause of the abnormality was achalasia (cardio-esophageal dilatation) in 2.244 instances, sliding hernias in 167 and hiatal hernias in 65. Only 213 patients underwent operations, 8,%. Gastroesophageal reflux in children has characteristics different from those of gastroesophageal reflux in adults. Knowledge of the forces that influence the closing mechanisms of the lower esophageal sphincter (LES) is the cornerstone for rational and logical intervention. The philosophy in pediatrics is that a child is a being in evolution and that the anomaly in children originates from a displaced healthy LES that has not had the opportunity to demonstrate its function because it is not in its proper place. An operation that helps to provide essential anatomic conditions immediately leads the LES to normal physiology. The A.A. discussed and presented in which cases the surgical procedure has to be taken.

[Total colonic aganglionosis]. / Aganglionismo cólico total.

Between 1966 and 1990, 171 cases of Hirschsprung's disease, of which 21 were total colonic aganglionosis, were surgically treated at our centre. In the first period up to 1978, in which total parenteral nutrition (TPN) was not used, six of 11 patients died. From 1979 to 1990, ten further cases were treated with the support of TPN and only one death occurred, in a child with aganglionosis up to one-half of the yeyunum. The 14 surviving patients were treated, ten with the Duhamel technique, two with Rehbein and one with Boley procedure. The Lester Martin technique was not used. Follow-up of ten of then patients showed their good general condition. The number of daily bowel movements, on the average three, was higher than normal. Studies of serum iron, vitamin B12 and folic acid absorption showed slightly low values, which require close monitoring. Hydrogen and fecal test were normal.

[Intestinal dysmotility-pseudo-obstruction]. / Dismotilidad intestinal-pseudoobstrucción.

Chronic intestinal pseudo-obstruction is defined as a syndrome related to any process which affects intestinal regulation and propulsion. Its origin may be muscular, neurogenic or hormonal, excluding Hirschsprung's disease or any known mechanical obstruction. Between 1989 and 1991, 11 patients with intestinal pseudo-obstruction were studied at our centre, and included nine hyperganglionisms B, and two hypoganglionisms) and two visceral myopathies (Berdon's syndrome). Diagnosis was established in all cases by histologic study. The techniques of haematoxylin-eosin, acetylcholinesterase, enolase, protein S-100 and Smith were used in neuropathies and haematoxylin-eosin and Masson's trichromic in myopathies. Intestinal motility was studied by ano-rectal and gastrointestinal manometry in seven and three cases respectively. Gastrointestinal manometry and radiology permitted differentiation of localized and diffuse forms of involvement. Medical treatment consisted of total parenteral nutrition when oral feeding was impossible, and in five cases, cisapride was given, with good results in four. Derivative surgery was performed in cases of diffuse involvement, and resection with anastomosis in those of localized forms. We conclude that: 1. Diagnosis is established according to histologic criteria. 2. Complementary examinations should be directed towards distinguishing localized from diffuse involvement. 3. Cisapride was effective in the treatment of neuropathies in the majority of cases.

[Extrahepatic cholestasis of nonatretic origin. New diagnostic and therapeutic possibilities]. / Colestasis extrahepatica de origen no atresiante. Nuevas posibilidades diagnosticas y terapeuticas.

Nonatretic cholestatic disorders exhibit differential features in the pediatric age group, at times not too obvious but always discernible. These characteristic differences, with the aid of increasingly more precise exploratory techniques, make a rapid and sound diagnosis possible. At present, echography, transparietohepatic cholangiography and endoscopic retrograde cholangiography allow us, within a short time, to reach a diagnosis of disorders that not long ago were only roughly profiled and on occasion were left undiagnosed. At the Children's Hospital Valle de Hebrón, treatment has been afforded, in the last seven years, to seven patients with a choledochal cyst, four with a long common biliopancreatic duct, one with a choleperitoneum due to spontaneous perforation of a choledochal cyst and one patient with congenital stenosis of the common hepatic duct. In all cases where echography was performed, an intra- or extrahepatic bile duct dilatation could be demonstrated, or otherwise the diagnosis of a choledochal cyst was established. Furthermore, four transhepatic and three retrograde cholangiographic examinations were carried out, via a fiber duodenoscopy, in those cases that failed to show, on echography, the existence of a choledochal cyst.

[The usefulness and evaluation of postanorectoplasty sagittal posterior biofeedback]. / Utilidad y evaluación del biofeedback postanorrectoplastia sagital posterior.

Posterior sagittal anorectoplasty (ARPSP) was described at first of the 80-90 decade like a new surgical technique for the anorectal malformation treatment and derived fecal incontinence. We have evaluated 35 of 67 ARPSP using biofeedback techniques (BFB) before surgery as restore system to striate muscle. Manometric values of the canal anal profile (PCA), postoperative external sphincter pressure and postoperative, first and last BFB voluntary contraction pressure shows clearly the differences between surgical intervention and BFB outcome. The author's opinion is that BFB is the indispensable therapy in the ARPSP postoperative to lend the patients get optimal fecal continence.

[Follow-up and evolution of 10 cases operated on for total colonic aganglionosis]. / Seguimiento y evolucion de 10 casos intervenidos de aganglionismo colico total.

One hundred sixty-one cases of HIRSCHSPRUNG's disease have been operated on by us between 1966 and 1988. Of these, 19 were total colonic aganglionosis. Of eleven that underwent surgery before 1982, five are still alive. The eight that were operated on after 1982 have a good evolution. This report is a retrospective study of the clinical evolution in ten of the thirteen survivors. The ages are comprised between 21 and 2 1/2 years. We have reviewed their general condition, weight, height, tolerance to oral intake, stool frequency, general laboratory determinations, circulating iron, transferrin, transferrin saturation, absorption of vitamin B12 and folic acid, hydrogen test and stool examination. Except for one case, the others are in a perfect nutritional and growth condition. DUHAMEL's technique was employed in eight cases and REHBEIN's technique, in two. Given our good results, we think that LESTER-MARTIN's technique is unnecessary, except for that cases with extensive small bowel involvement due to the serious problems of absorption that this represents.

[Total parenteral nutrition. A 1-year experience with 96 patients]. / Nutrición parenteral total. Experiencia en un año con 96 pacientes.

In 1987, ninety-six surgical patients, of whom 44 were premature or newborn babies and 52 were infants or older children, received total parenteral nutrition (T.P.N.) at our hospital. A peripheral venous line was utilized on forty patients in the first group and only on 9 in the second group. The excellent results yielded by T.P.N. are self-evident from the low mortality showed by these patients. Thirty-three out of the 44 neonates and premature infants with serious surgical problems survived, being noteworthy the occurrence of just 3 deaths within a series of 13 necrotizing enterocolitis. In the series of 52 infants and older children, composed of 13 digestive patients (with 5 liver transplants), 6 tumoral, 9 neurologic, 4 renal (2 transplantations), 18 cardiac, 1 thoracic and 1 burnt, only 9 patients died. The average duration of T.P.N. was 10 days in the group of premature and newborn infants and 6 days for the nursing infants and older children, save for the 8 patients in whom the treatment had to be prolonged for a few months. We conclude that T.P.N., when applied in time and of short duration should entail no risk at all. In neonate and premature infant a peripheral vein shall be the route of choice. In the nursing infant and older child a central venous line is preferable, if possible the superior vena cava or its major tributary veins.