[Familial adenomatous polyposis: a follow-up of the extracolonic manifestations]. / Poliposis adenomatosa familiar: seguimiento de las manifestaciones extracolónicas.

INTRODUCTION: Total colectomy is the only effective treatment for prophylaxis against colon cancer in patients with familial adenomatous polyposis (FAP). We present our experience with 4 children colectomized for FAP, with a particular focus on the long-term surveillance to detect extracolonic manifestations. PATIENTS AND METHODS: We review the clinical histories of 4 patients from 10 to 16-years-old, with family histories of FAP. Performed for each patient were: genetic testing, colonoscopy, double contrast enema, gastro-oesophageal duodenoscopy, thyroid and abdominal ultrasound, fundus oculi, and tumour markers (CEA, CA 19.9). They underwent total colectomy with ileoanal anastomosis and anorectal mucosectomy with an ileal J-pouch. During follow-up, they were monitored regularly with imaging techniques (including a video capsule in one patient) and endoscopy. Also evaluated were faecal continence, food intake, and height-weight development. RESULTS: All had multiple polyps in the colon, and mutation of the APC gene. Hypertrophy of the retinal pigment epithelium was observed in three. Immediately postoperative, there were abundant diarrhoeic stools, two presented an episode of "pouchitis", and one moderate undernourishment. One patient had an intraperitoneal haemorrhage that was resolved by blood transfusion. All 4 have normal faecal continence. During the first months postoperative, two patients showed considerable weight loss. In the follow-up (> 3 years), moderate undernourishment was observed in one patient. Duodenal polyps were found in two patients--in one by duodenoscopy, and in the other with the video capsule. CONCLUSIONS: After colectomy, FAP patients may develop extracolonic clinical manifestations, some of which may be malignant such as thyroid and periampullary cancer. Careful surveillance of these patients is therefore very important, with annual checks using gastroduodenoscopy and thyroid and abdominal ultrasound.

[Relationship between the radiological length of the opaque enema and the aganglionic length of the segment in Hirschsprung's disease]. / Relación entre la longitud radiológica del enema opaco y la longitud agangliónica de la pieza en la enfermedad de Hirschsprung.

INTRODUCTION: Barium enema was the first method used for the diagnosis of Hirschsprung's disease, with the appearance of anorectal manometry and its combination with rectal suction biopsy, barium enema has lost value as a diagnosis method but it has also gain importance to decide the surgical technique that will be used for the correction of the disease. AIM: To determine the correlation between the length of the affected segment showed by barium enema valued and the length of the removed piece. MATERIALS AND METHODS: We have studied all Hirschsprung disease's cases diagnosed and treated in our center since 1998, 127 patients underwent Soave-Boley's technique and 51 De La Torre's descent technique. Routinely preoperative barium enema was performed in all cases and determine the location of the transition zone and compared with the aganglionic segment's length specified by pathologist. RESULTS: At 90% of cases the transition zone could be seen at barium enema, it's most common location was rectosigmoid. After statistically analysis the length measured at radiology tests and the length of the anatomic piece showed a low correlation (kappa index 0.0159), being highest values at rectosigmoid transition and very low values at long affected segments. CONCLUSIONS: Barium enema in Hirschsprung's disease is valuable to decide the best surgical technique in each singular case but not to determine the exact length of affected segments. In case of a aganglionic long-segment suspicion, biopsies may be necessary to determinate preoperative length of affected segments.

[Utility of anorectal manometry in the diagnosis and treatment of encopresis]. / Utilidad de la manometría anorrectal para el diagnóstico y tratamiento de la encopresis.

BACKGROUND: Biofeedback based on anomanometric techniques has been shown to be effective in the treatment of children with encopresis. The long-term efficacy of biofeedback and which variables of anorectal manometry (anorectal manometry) could help to establish biofeedback indications are currently the subject of debate. OBJECTIVES: To identify which variables of anorectal manometry, in addition to symptoms, could be useful in deciding which patients could benefit from biofeedback therapy and to assess the outcome of this treatment. PATIENTS AND METHODS: Anorectal manometry was performed in 88 patients, who were referred to our service complaining of soiling at least once a month for a minimum of 6 months after a period of normal continence of 1 year or more. The chronological and mental age of the patients was 4 years. All patients were otherwise in good health and had shown no response to medical treatment. The following variables were studied: anal canal profile, rectoanal inhibitory reflex (RAIR), continence reflex, rectal sensitivity, external anal sphincter (EAS) activity and defecatory maneuver. The patients were divided into two groups, according to clinical and anomanometric impairment, and the most affected patients (n = 41) underwent biofeedback therapy. The indications and outcome of biofeedback were assessed through clinical course and anorectal manometry. In the statistical analysis, the mean and standard deviation were calculated. The chi-squared test with Yates' correction was used to compare clinical and manometric qualitative parameters; Student's t-test was used to compare quantitative parameters; nonparametric tests consisted of the Mann-Whitney test and the Wilcoxon test was used for paired data. RESULTS: Patients treated with biofeedback therapy presented shorter anal canal, greater pressure in the rectal ampulla (P < 0.001), decreased pressure in the anal canal (P < 0.05), lesser distension of the EAS on provoking RAIR, lower presence of the continence reflex (P < 0.01), lower rectal sensitivity, and a worse response of the striated sphincteric muscle and of the defecatory maneuver (P < 0.001). Seventy-eight percent of the patients had a good response to biofeedback therapy. Pressure in the anal canal and rectal sensitivity improved (P < 0.001) with normality on straining in 11 out of 15 patients. These good results persisted in a long-term follow-up of 10 patients. Eight of 10 patients who did not undergo biofeedback therapy showed persistent encopresis (P < 0.001). CONCLUSIONS: Anorectal manometry detected disturbances, chiefly in the activity of the EAS, which are useful in indicating biofeedback therapy in children with secondary encopresis. Biofeedback therapy seems to produce favorable long-term results in the majority of the most severely affected patients.

[Malignant head-neck fibrous histiocytoma in an infant]. / Histiocitoma fibroso maligno cérvico-craneal en un lactante.

We describe one case of malignant fibrous histiocytoma variant myxoid in an eight month old infant. A review of the etiology of this tumor is made. Its unusual presentation in the cervical-cranial region may induce to misdiagnosis with lymphangioma in this location.

[Third and fourth cervical pouches remnants and branchial clefts]. / Restos cervicales de las bolsas y hendiduras branquiales tercera y cuarta.

We present our experience with nine patients who were operated on for having cervical cysts lesions with the purpose of providing more information about this type of pathology. Five patients presented a left low-jaw cervical mass, diagnosed in the neonatal period. All of them presented with respiratory distress and in four of them quick local inflammatory manifestations appeared. A plain radiograph demonstrated liquid and air in the lesion and we proceeded to the operation. We made four drainages with marsupialization and in another patient complete excision of the lesion was made. Two marsupializations closed spontaneously and the other two had to be reoperated for excision of a pharyngo-cutaneous fistula. In the wall of the cyst there were thyroid-follicles, considering them remnants from the fourth branchial pouch. Three patients were diagnosed at one, two and five years of age respectively with a cervical mass and were operated on with complete excision. Due to its anatomic situation and lack of relation with other structures, we thought as probably deriving from the cervical sinus. In one patient who presented a mass in the inner side of the sternocleidomastoid muscle, complete excision of the lesion was made which had a tract joining the piriform sinus area, and thymic and thyroid tissue, being diagnosed as a cervical thymic cyst. All the patients cured with the complete excision. The anatomic situation ot these lesions and their connexions with next structures provide the best data to know their probable embrionary origin.

Estafilococcemia con perforacion duodenal. / Serum Staphylococcus with duodenal perforation.

Se informa de un caso de septicemia por estafilococo aureus coagulosa positiva asociado a perforacion duodenal.