A Common Variant in the CDK8 Gene Is Associated with Sporadic Pituitary Adenomas in the Portuguese Population: A Case-Control Study.

The majority of pituitary adenomas occur in a sporadic context, and in the absence of known genetic predisposition. Three common variants at the NEBL (rs2359536), PCDH15 (rs10763170) and CDK8 (rs17083838) loci were previously associated with sporadic pituitary adenomas in the Han Chinese population, but these findings have not yet been replicated in any other population. The aim of this case-control study was to assess if these variants are associated with susceptibility to sporadic pituitary adenomas in the Portuguese population. Genotype and allele frequencies were determined in 570 cases and in 546 controls. The CDK8 rs17083838 minor allele (A allele) was significantly associated with sporadic pituitary adenomas, under an additive (odds ratio (OR) 1.73, 95% confidence interval (CI) 1.19-2.50, p = 0.004) and dominant (OR 1.82, 95% CI 1.24-2.68, p = 0.002) inheritance model. The NEBL rs2359536 and PCDH15 rs10763170 variants were not associated with the overall risk for the disease, although a borderline significant association was observed between the PCDH15 rs10763170 minor allele (T allele) and somatotrophinomas (dominant model, OR 1.55, 95% CI 1.02-2.35, p = 0.035). These findings suggest that the CDK8 rs17083838 variant, and possibly the PCDH15 rs10763170 variant, may increase susceptibility to sporadic pituitary adenomas in the Portuguese population.

Multidisciplinary Team Care in Pituitary Tumours.

The optimal care for patients with pituitary tumours is best provided in a multidisciplinary and collaborative environment, which requires the contribution of multiple medical specialties working together. The benefits and advantages of the pituitary multidisciplinary team (MDT) are broad, and all relevant international consensus and guidelines in the field recommend that patients with pituitary tumours should always be managed in a MDT. Endocrinologists and neurosurgeons are normally the leading specialties within the pituitary MDT, supported by many other specialties with significant contributions to the diagnosis and management of pituitary tumours, including neuropathology, neuroradiology, neuro-ophthalmology, and otorhinolaryngology, among others. Here, we review the literature concerning the concepts of Pituitary MDT/Pituitary Tumour Centre of Excellence (PTCOE) in terms of their mission, goals, benefits, structure, proposed models of function, and barriers, and we also provide the views of different specialists involved in our Pituitary MDT.

Metastatic pituitary neuroendocrine neoplasms: A case report of a malignant prolactinoma.

We report a rare clinical case of a malignant prolactinoma in which the exponential increase of prolactin levels with minimal tumor growth and no response to treatment led to diagnosis of abdominal, thoracic, and vertebral metastases.

Maturity-onset diabetes of the young secondary to HNF1B variants (HNF1B-MODY): a series of 10 patients from a single diabetes center.

BACKGROUND: Maturity-Onset Diabetes of the Young (MODY) is an autosomal dominant condition and represents 1-5% of all cases of diabetes mellitus. MODY is often misdiagnosed as type 1 or type 2 diabetes. The rare subtype 5 (HNF1B-MODY) is due to hepatocyte nuclear factor 1ß (HNF1B) molecular alteration and is remarkable for its multisystemic phenotypes characterized by a broad spectrum of pancreatic and extra-pancreatic clinical manifestations. METHODS: Retrospective study of patients with HNF1B-MODY diagnosis followed in the Centro Hospitalar Universitário Lisboa Central (Lisbon, Portugal). Demographic data, medical history, clinical and laboratory data, follow-up and treatment procedures were obtained from electronic medical records. RESULTS: We found 10 patients with HNF1B variants (7 index cases). The median age at diabetes diagnosis was 28 (IQR 24) years and the median age at HNF1B-MODY diagnosis was 40.5 (IQR 23) years. Six patients were initially misclassified as type 1 and 4 as type 2 diabetes. The average time between diabetes diagnosis and the diagnosis of HNF1B-MODY was 16.5 years. Diabetes was the first manifestation in half of the cases. The other half presented with kidney malformations and chronic kidney disease at pediatric age as the first manifestation. All these patients were submitted to kidney transplantation. Long-term diabetes complications included retinopathy (4/10), peripheral neuropathy (2/10) and ischemic cardiomyopathy (1/10). Other extra-pancreatic manifestations included liver test alterations (4/10) and congenital malformation of the female reproductive tract (1/6). History of a first-degree relative with diabetes and/or nephropathy diagnosed at a young age was present in 5 of the 7 index cases. CONCLUSIONS: Despite being a rare disease, HNF1B-MODY is underdiagnosed and often misclassified. It should be suspected in patients with diabetes and CKD, especially when diabetes appears at a young age, a family history is present, and nephropathy appears before/shortly after the diagnosis of diabetes. Presence of unexplained liver disease increases the degree of suspicion for HNF1B-MODY. Early diagnosis is important to minimize complications and to allow familial screening and pre-conception genetic counseling. Trial registration not applicable due to the retrospective nature of the study, non-interventional.

Preoperative Location Of Parathyroid Adenomas In Primary Hyperparathyroidism: The Role of Cervical Doppler Ultrasound.

INTRODUCTION: Parathyroid adenoma is the most frequent cause of primary hyperparathyroidism. In recent years, the preoperative location of parathyroid adenomas allowed minimally invasive surgical techniques that have become preferred over the traditional bilateral neck exploration. The more recent guidelines on this subject highlight the role of nuclear medicine imaging tests. The aim of this study was to review the current role of Doppler ultrasound (US) in assessing the preoperative location of parathyroid adenomas in patients with primary hyperparathyroidism. MATERIAL AND METHODS: Retrospective study based on data from patients with primary hyperparathyroidism that underwent parathyroidectomy between January 2013 and January 2022 at the Centro Hospitalar Universitário Lisboa Central. Statistical analysis was performed with IBM SPSS Statistics, version 26.0.0.0®. RESULTS: Parathyroidectomy was performed in 171 patients (77.8% females) with primary hyperparathyroidism. Cervical Doppler ultrasound was the most performed test (64.3%, n = 110) for preoperative location and detected a suspicious lesion in 98 patients (89.1%). The preoperative location of the parathyroid adenomas was assessed through the Doppler ultrasound and was compared with the surgical reports and histological findings; a correct identification was made in 76 patients (77.6%). Doppler ultrasound slightly underestimated the mean adenoma size (18.1 ± 7.7 mm preoperative versus 22 ± 8.4 mm postoperative). Calcium, parathyroid hormone levels, adenoma size and concomitant presence of thyroid nodules did not affect the accuracy of Doppler ultrasound. CONCLUSION: Doppler ultrasound showed high diagnostic accuracy even in patients with nodular thyroid disease regardless of calcium and parathyroid hormone levels and adenoma size. Furthermore, its safety, affordability and availability should favor its use as first line test in primary hyperparathyroidism to assess the preoperative location of parathyroid adenomas.

Case Report: Artifactual Hypoglycemia: A Condition That Should Not Be Forgotten.

Background: Hypoglycemia is uncommon in people who are not being treated for diabetes mellitus and, when present, the differential diagnosis is broad. Artifactual hypoglycemia describes discrepancy between low capillary and normal plasma glucose levels regardless of symptoms and should be considered in patients with Raynaud's phenomenon. Case Presentation: A 46-year-old female patient with a history of a sleeve gastrectomy started complaining about episodes of lipothymias preceded by sweating, nausea, and dizziness. During one of these episodes, a capillary blood glucose was obtained with a value of 24 mg/dl. She had multiple emergency admissions with low-capillary glycemia. An exhaustive investigation for possible causes of hypoglycemia was made for 18 months. The 72h fasting test was negative for hypoglycemia. A Raynaud's phenomenon was identified during one appointment. Conclusion: Artifactual hypoglycemia has been described in various conditions including Raynaud's phenomenon, peripheral arterial disease, Eisenmenger syndrome, acrocyanosis, or hypothermia. With this case report, we want to reinforce the importance of being aware of this diagnosis to prevent anxiety, unnecessary treatment, and diagnostic tests.

Pituitary metastasis as the first manifestation of lung carcinoma.

Pituitary metastases are rare. Clinical presentation could range from asymptomatic to panhypopituitarism or local symptoms. We present a case report of a 43-year-old male patient with a new onset headache, visual disturbances, and panhypopituitarism. The investigation led to the diagnosis of pituitary metastasis as the first manifestation of underlying lung cancer.

Giant cell arteritis with normal inflammatory markers: case report and review of the literature.

Giant cell arteritis (GCA) is a granulomatous vasculitis involving large- and middle-sized arteries, with a predilection for cranial arteries. In this paper, we aim to describe a case of a biopsy- and ultrasound-proven GCA, presenting with anterior ischemic optic neuropathy (AION) and normal CRP and ESR at diagnosis and during follow-up, and to review the literature on GCA cases with low inflammatory markers, with a particular focus on the presence of eye involvement. Both CRP and ESR are important in the diagnosis of GCA; occurrence of this disease with normal acute phase reactants is unusual but does not rule out the diagnosis. Headache and visual manifestations were the most common symptoms reported in these cases; therefore, patients with the clinical suspicion of GCA require immediate ultrasound and/or temporal artery biopsy for correct diagnosis and treatment initiation in order to avoid permanent visual loss.

Treatment adoption and relative effectiveness of aromatase inhibitors compared to tamoxifen in early breast cancer: A multi-institutional observational study.

BACKGROUND: Since 2005, aromatase inhibitors (AIs) have been the adjuvant treatment of choice for postmenopausal women with early breast cancer (BC). In this study we characterize the adoption of AIs in Portugal, variables associated with treatment administration, and compare its effectiveness (either in monotherapy or sequential therapy) to tamoxifen monotherapy (TAM). PATIENTS AND METHODS: This was a retrospective cohort study that included postmenopausal women with stage I-III hormone receptor (HR) positive BC diagnosed from 2006 to 2008 and treated with adjuvant endocrine therapy in four participating institutions. RESULTS: Of the 1283 eligible patients, 527 (41%) received an AI (16% as monotherapy, 25% as sequential therapy) and 756 (59%) TAM. Patients treated with AI had less differentiated tumors, with higher TNM stage, and were more frequently HER2-positive. Use of AI also differed by center (use range from 33% to 75%, p < 0.001). With a median follow-up of 6.3 years and controlling for clinicopathological and treatment characteristics, treatment with AI had a better overall survival (OS) when compared with TAM (adjusted-HR 0.55, 95% CI 0.37-0.81). CONCLUSION: AIs were successfully introduced as adjuvant treatment for HR-positive BC in Portuguese hospitals. Its use was influenced by tumor and patient characteristics, but also center of care. In this large cohort, AI use was associated with an OS benefit.

Leydig cell tumour and mature ovarian teratoma: rare androgen-secreting ovarian tumours in postmenopausal women.

Androgen-secreting ovarian tumours are extremely rare accounting for <5% of all ovarian neoplasms. They are more frequent in postmenopausal women and should be suspected in the case of a rapid onset of androgenic symptoms. We report 4 cases of postmenopausal women who presented with signs of virilisation. All patients revealed increased serum levels of testosterone, normal dehydroepiandrosterone-sulfate and negative pelvic ultrasound for adnexal masses. An androgen-secreting ovarian tumour was suspected and all of them were submitted to bilateral oophorectomy. Histology confirmed the diagnosis of Leydig cell tumours in 3 patients and mature teratoma in 1. A successful response to surgery, which includes a decline in serum androgen levels and signs of hyperandrogenism, was observed in our patients. This case series demonstrates that androgen-secreting ovarian neoplasms may not be detectable by imaging studies, but should be considered in the differential diagnosis of all postmenopausal women with signs of hyperandrogenism.

Variation in type of adjuvant chemotherapy received among patients with stage I breast cancer: A multi-institutional Portuguese cohort study.

BACKGROUND: A contemporary US study showed an increase in the use of chemotherapy in the last decade for some patients with stage-I breast cancer; with a rise in more intensive regimens, and declining use of anthracyclines. Nevertheless, there is still uncertainty on the absolute benefit of chemotherapy for these patients and the optimal regimen. In this study we compare those findings with the patterns of care among a Portuguese cohort of stage-I breast cancers. METHODS: Retrospective cohort study of patients with stage-I breast cancer diagnosed from 2006 to 2008 at four Portuguese institutions. The use and type of chemotherapy was evaluated. RESULTS: Among patients with stage I-III breast cancer 39.4% (n = 682) had stage I disease. Of the 595 eligible patients, 22.4% were treated with chemotherapy, 33.9% aged <55 years vs. 12.7% aged >65 years (p < 0.001). Thirteen percent of patients with hormone receptor (HR)+/HER2- tumors, 52.7% of patients with HER2+ and 66.0% of patients with HR-/HER2- received chemotherapy (p < 0.001). In addition, we found inter-institutional variability, with the use of chemotherapy ranging from 0.0% to 43.4% (p < 0.001). Eighty-five percent of patients treated with chemotherapy received less-intensive regimens with anthracycline-based regimens, such as doxorubicin and cyclophosphamide, being the most frequently used, while docetaxel and cyclophosphamide was only used in 1.5% of cases. CONCLUSIONS: Overall, almost one-quarter of patients received chemotherapy with institutional variability. When treated, mostly less-intensive associations including anthracyclines were used, which contrasts with contemporary US practice. This study highlights the need for health-services research to understand local practices and tailor quality improvement interventions.

Antibiotic-resistant Helicobacter pylori strains in Portuguese children.

BACKGROUND: Data concerning the effectiveness of Helicobacter pylori eradication regimens based in antibiotic susceptibility testing are scanty in children. AIMS: To identify the prevalence of antibiotic resistance in H. pylori strains isolated from Portuguese children in 1999-2003; to evaluate eradication rate after antibiotic susceptibility testing-based treatment; and to identify factors associated with resistance and eradication outcome. METHODS: Included were 109 children with a gastric biopsy culture positive for H. pylori. First treatment (amoxicillin, omeprazole and clarithromycin or metronidazole) was guided by susceptibility testing (E test), and eradication was assessed by [C]urea breath test. RESULTS: Strains were susceptible to amoxicillin and tetracycline; 39.4% were resistant to clarithromycin, 16.5% to metronidazole and 4.5% to ciprofloxacin. No significant association was found between resistance and sex, age, clinical status, gastritis scores, H. pylori density scores and genotype. Clarithromycin resistance was significantly associated with European origin [odds ratio (OR), 3.9], previous H. pylori empiric therapy (OR 2.8) and amoxicillin minimal inhibitory concentration, > or =0.016 (OR 6.0). Eradication rate after susceptibility-based treatment was 74.7% (59 of 79; 95% confidence interval, 65.9-82.9), and a significant association was found between eradication failure and presence of resistance to 1 or more antibiotics (P < 0.05). CONCLUSIONS: The prevalence of H. pylori antibiotic resistance was high in the studied population. The modest therapeutic success of clarithromycin and metronidazole susceptibility-based regimens suggests that in addition to resistance, other factors may be involved. The need of susceptibility-based treatment studies in children and of antimicrobial resistance surveillance in high prevalence areas for H. pylori are emphasized.

Autoimmune gastritis presenting as iron deficiency anemia in childhood.

AIM: To characterize clinical, laboratorial, and histological profile of pediatric autoimmune gastritis in the setting of unexplained iron deficiency anemia investigation. METHODS: A descriptive, observational study including pediatric patients with a diagnosis of autoimmune gastritis (positive parietal cell antibody and gastric corpus atrophy) established in a 6 year period (2006-2011) in the setting of refractory iron deficiency anemia (refractoriness to oral iron therapy for at least 6 mo and requirement for intravenous iron therapy) investigation, after exclusion of other potentially contributing causes of anemia. Helicobacter pylori (H. pylori) infection and anti-secretory therapy were also excluded. Data were retrospectively collected from clinical files, including: demographic data (age, gender, and ethnic background), past medical history, gastrointestinal symptoms, familial history, laboratorial evaluation (Hb, serum ferritin, serum gastrin, pepsinogen I/ pepsinogen II, B12 vitamin, intrinsic factor autoantibodies, thyroid autoantibodies, and anti-transglutaminase antibodies), and endoscopic and histological findings (HE, Periodic Acid-Schiff/Alcian blue, gastrin, chromogranin A and immunochemistry analysis for CD3, CD20 and CD68). Descriptive statistical analysis was performed (mean, median, and standard deviation). RESULTS: We report a case-series concerning 3 girls and 2 boys with a mean age of 13.6 ± 2.8 years (3 Caucasian and 2 African). One girl had type I diabetes. Familial history was positive in 4/5 cases, respectively for autoimmune thyroiditis (2/5), sarcoidosis (1/5) and multiple myeloma (1/5). Laboratorial evaluation on admission included: Hb: 9.5 ± 0.7 g/dL; serum ferritin: 4.0 ± 0.9 ng/mL; serum gastrin: 393 ± 286 pg/mL; low pepsinogen I/ pepsinogen II ratio in 1/5 patients; normal vitamin B12 levels (analyzed in 3 patients). Endoscopy findings included: duodenal nodularity (2/5) and gastric fold softening (2/5), and histological evaluation showed corpus atrophic gastritis with lymphocytic infiltration (5/5), patchy oxyntic gland mononuclear cell infiltration (5/5), intestinal and/or pseudo-pyloric metaplasia in corpus mucosa (4/5), and enterochromaffin cell hyperplasia (4/5). Immunochemistry for gastrin on corpus biopsies was negative in all cases. Duodenal histology was normal. All biopsies were negative for H. pylori (Giemsa staining and cultural examination). CONCLUSION: We highlight autoimmune gastritis as a diagnosis to be considered when investigating refractory iron deficiency anemia in children, particularly in the setting of a personal/familial history of autoimmune disease, as well as the diagnostic contribution of a careful immunohistological evaluation.

[Eosinophilic esophagitis: clinical expression at pediatric age]. / Esofagite eosinofílica: diversidade de expressão clínica em idade pediátrica.

Eosinophilic esophagitis is an emerging chronic oesophageal inflammatory disease, increasingly recognized both in children and in adults. It is presently accepted that this entity has a chronic course with persistent or relapsing symptoms and a wide range of clinical manifestations at different age groups: in children it is responsible for feeding disorders, vomiting or abdominal pain; in teenagers and adults it causes dysphagia and oesophageal food impaction. The etiopathogenesis of eosinophilic esophagitis has not been yet well established, but immuno-allergic mechanisms associated with a Th2 immune response have been proposed. Diagnosis is based both on clinical and histological grounds, requiring that oesophageal mucosal biopsy specimens obtained from different oesophageal locations contain more than 15 intraepithelial eosinophils per high power field and the exclusion of gastroesophageal reflux disease. Currently proposed effective treatments rely on eviction of putative allergens through dietary exclusion and on treatment with swallowed steroids. We describe two cases (a young child and a teenager) illustrative of the clinical spectrum and course variability of eosinophilic esophagitis at pediatric age. A brief review of current knowledge concerning this puzzling clinical entity is presented, emphasizing specific diagnostic dilemmas and questions concerning its long-term follow-up.

Thrombosed aneurysm of the left sinus of valsalva presenting as an intramyocardial mass.

Aneurysms of the sinuses of Valsalva are uncommon in clinical practice. Most are congenital, but secondary causes are also recognized. Congenital aneurysms of the left sinus of Valsalva are particularly rare. The authors report a fatal case in which a nonruptured aneurysm of the left sinus of Valsalva dissected into the interventricular septum and presented as heart failure. The concurrent presence of dilated cardiomyopathy and the mechanisms that may have led to it are discussed on the basis of the anatomic and histologic features found at autopsy.

Helicobacter pylori genotypes in children from a population at high gastric cancer risk: no association with gastroduodenal histopathology.

OBJECTIVES: Both bacterial and host determinants underlying differences in histopathology and clinical outcome in H. pylori pediatric infection, as compared to adults, are still poorly documented. Pediatric studies may provide important insights on H. pylori infection immunopathogenesis, particularly in high gastric cancer risk populations. The present study concerns H. pylori genotypic diversity of isolates in children from a population with high gastric cancer risk, and its association with demographic and clinical variables, including gastroduodenal endoscopic and histopathological features. METHODS: A total of 119 subjects (mean age 10.3 yr, 1.5-18.0 yr) with H. pylori infection were studied. H. pylori vacA, cagA, and iceA genotypes were determined (PCR) in antral-obtained primary cultures; histopathological evaluation was performed in corpus, antrum, and duodenum biopsy specimens. RESULTS: cagA-, vacA s2m2, and iceA2 were the most prevalent genotypes. No association was observed between H. pylori genotypes and subject demographic and clinical variables, with the exception of a significant association between vacA s2 genotype and lower corpus inflammation score (p< 0.03). CONCLUSIONS: In this pediatric cohort, H. pylori genotype profiles were distinct from those reported in adult subjects in the same area, with a lower prevalence of the putative more virulent genotypes. Moreover, they were not associated with clinical expression of gastroduodenal disease, suggesting the potential role of host and/or environmental factors for the development of clinical disease at a later age.

Relationship among serum pepsinogens, serum gastrin, gastric mucosal histology and H. pylori virulence factors in a paediatric population.

OBJECTIVE: Serum pepsinogens and gastrin have been proposed as markers of gastritis, but have seldom been studied in children. In this study the aim was to identify host- and Helicobacter pylori-related factors linked to variations in serum gastrin, PGI, PGII, and to evaluate the potential of these biomarkers for diagnosing gastritis, whether H. pylori-associated or not. MATERIAL AND METHODS: Ninety-two dyspeptic children referred for endoscopy (peptic ulcer exclusion) were included in the study. H. pylori status (urease, culture, histology) was assessed, and genotype determined (PCR) in H. pylori-positive subjects. Serum gastrin, PGI and PGII levels were measured by standard radioimmunoassay (RIA). RESULTS: PGI and PGII levels were significantly higher in H. pylori-positive subjects (p=0.007; p=0.012, respectively). Gastrin levels were significantly higher in H. pylori-negative subjects (p=0.035). PGI and PGII were associated significantly with higher antrum inflammation scores (p=0.002; p=0.016, respectively); only PGI was associated with age, after controlling for inflammation (p=0.033) and for activity (p=0.037). The contribution of virulence factors could not be assessed owing to the low number of virulent strains. After multivariate analysis, only antrum inflammation was independently associated with PGI level (p=0.012). Receiver operating characteristic (ROC) analysis showed a low PGI and PGII discriminant power for predicting antrum inflammation. CONCLUSIONS: Pepsinogen levels as measured in this study seem predominantly to reflect antral inflammation, but they are not an effective screening test for gastritis (H. pylori-positive or -negative) in dyspeptic children.

Cytokine expression in pediatric Helicobacter pylori infection.

Helicobacter pylori infection is one of the most common gastrointestinal infections worldwide and almost invariably causes chronic gastritis in the infected host. A predominant Th1 profile has been demonstrated in H. pylori-infected mucosa from adults, but no previous study has evaluated in situ cytokine expression in children. We therefore examined expression of proinflammatory, anti-inflammatory, and regulatory cytokines by immunohistochemistry in cryopreserved antral biopsy specimens from 10 H. pylori-infected and 10 uninfected children and correlated expression of cytokines with histology scores. Concomitant expression of interleukin-8 (IL-8), gamma interferon (IFN-gamma), IL-4, transforming growth factor beta, and tumor necrosis factor alpha was seen in 8/10 H. pylori-infected cases and in 5/10 noninfected cases; all H. pylori-infected subjects showed staining for at least two of the cytokines. The proportion of epithelial cytokine-specific staining did not differ significantly between the groups, either in surface or glandular epithelium. Furthermore, no significant differences were noticed between intraepithelial or lamina propria lymphocyte staining in the groups. There was, however, a tendency of higher numbers of IFN-gamma- and IL-8-positive cells in the H. pylori-infected group. IFN-gamma and IL-8 lamina propria lymphocyte expression correlated significantly with antrum chronic inflammation, but there was no correlation between histology scores and epithelial cytokine expression. When the same techniques were used, the cytokine response appeared to be smaller in H. pylori-infected children than in adults, and there was no clear Th1 dominance. These results therefore suggest a different mucosal immunopathology in children. It remains to be determined whether the gastric immune response is downregulated in children with H. pylori infection and whether this is relevant to the outcome of infection.

[Peutz-Jeghers syndrome: variability of gastrointestinal expression at pediatric age]. / Sindrome de Peutz-Jeghers. Diversidade de expressão gastrointestinal em idade pediátrica e considerações sobre a sua abordagem clínica.

Peutz-Jeghers syndrome is a rare autosomal dominant condition, characterized by gastrointestinal polyposis, mucocutaneous pigmentation and high risk of neoplasia in multiple organs. At pediatric age, major clinical impact is related to complications associated to intestinal polyps, but neoplasic risk isn't negligible. Though clinical surveillance is recommended since the age of 10 years, relevant lesions may occur before that age. Conventional radiology and endoscopy have recognized limitations at this age group, and new diagnostic and intervention tools, such as video-capsule and per-operative enteroscopy, are not yet widely used. We present 5 pediatric cases (age under 10 years) with diversity of gastrointestinal expression (including one case with histologic evidence of dysplasia in a large colonic polyp), emphasizing the need of specific guidelines concerning young children.