FACTORS ASSOCIATED WITH A HIGHER NUMBER OF ESOPHAGEAL DILATIONS IN CHILDREN WITH A HISTORY OF ALKALINE INGESTION.

BACKGROUND: Children who experience alkaline injury are at risk for the development of esophageal strictures and the need for esophageal dilations. OBJECTIVE: We aimed to assess predictors for a higher number of esophageal dilatations in children following alkali ingestion. METHODS: Single-center retrospective cohort study including children who underwent esophagogastroduodenoscopy (EGD) after alkali ingestion. Possible predictive factors for the need for esophageal dilatations were evaluated. RESULTS: A total of 34 patients were included, and 19 were female (55.9%). The median age at the time of the accidents was 20.6 months (IQR 15-30.7). All alkali ingestions were accidental, in all cases involving liquid products, and most (24/34; 70%) occurred at the child's home. Homemade liquid soap was the agent in half of the cases. The most frequently reported symptom at presentation was vomiting (22/34, 64.7%). The median follow-up time was 3.2 years (IQR 1.1-7.4). On follow-up, the median number of esophageal dilatations required for these patients was 12.5 (IQR 0-34). Among demographic factors, male gender (P=0.04), ingestion of homemade products (P<0.01), and accidents happening outside of the household environment (P=0.02) were associated with a greater number of esophageal dilations on follow-up. An endoscopic classification Zargar of 2B or higher (P=0.03), the presence of stricture at the time of the second EGD (P=0.01), and gastroesophageal reflux disease (GERD) as a late complication (P=0.01) were also associated with a greater number of esophageal dilations on long term follow-up. CONCLUSION: Beyond the endoscopic classification severity - a well-known risk factor for the strictures after alkali ingestions, we found that male gender, accidents with homemade products, and accidents occurring outside the household environment were significantly associated with a greater number of esophageal dilatations in the long-term follow-up of children following alkali ingestion.

Outcomes and factors associated with tolerance in infants with non-IgE-mediated cow's milk allergy with gastrointestinal manifestations.

OBJECTIVES: To evaluate outcomes of oral food challenge (OFC) test to assess tolerance in infants with non-IgE-mediated cow's milk allergy (CMA) with gastrointestinal manifestations and explore clinical data predictive of these outcomes. METHODS: Single-center retrospective study including infants (age < 12 months) who were referred for CMA between 2000 and 2018 and underwent OFC on follow-up. A univariate logistic regression test was performed to evaluate variables associated with the outcomes of the follow-up OFC test. RESULTS: Eighty-two patients were included, 50% were male. Eighteen patients had a positive OFC test (22%). Most patients had presented with hematochezia (77%). The median age of symptom onset was 30 days. Two-thirds of the patients were on appropriate infant formula (extensively hydrolyzed or amino acid-based formula), exclusively or in association with breastfeeding. The median time on an elimination diet before the OFC test was 8 months (Q1 6 - Q3 11 months). All cases with positive follow-up OFC tests (n = 18) had been exposed to cow's milk-based formula before the first clinical manifestation of CMA. Five out of eight cases with Food Protein-Induced Enterocolitis Syndrome (FPIES) had positive OFC tests. Exposure to cow's milk-based formula before diagnosis, a history of other food allergies, hematochezia and diarrhea were predictors of a positive OFC test. CONCLUSIONS: In infants with non-IgE-mediated CMPA with gastrointestinal manifestations, the use of cow's milk-based formula, a history of other food allergies, and hematochezia and diarrhea upon initial presentation were associated factors for the later achievement of tolerance.

Outcomes and factors associated with tolerance in infants with non-IgE-mediated cow's milk allergy with gastrointestinal manifestations

Abstract Objectives To evaluate outcomes of oral food challenge (OFC) test to assess tolerance in infants with non-IgE-mediated cow's milk allergy (CMA) with gastrointestinal manifestations and explore clinical data predictive of these outcomes. Methods Single-center retrospective study including infants (age < 12 months) who were referred for CMA between 2000 and 2018 and underwent OFC on follow-up. A univariate logistic regression test was performed to evaluate variables associated with the outcomes of the follow-up OFC test. Results Eighty-two patients were included, 50% were male. Eighteen patients had a positive OFC test (22%). Most patients had presented with hematochezia (77%). The median age of symptom onset was 30 days. Two-thirds of the patients were on appropriate infant formula (extensively hydrolyzed or amino acid-based formula), exclusively or in association with breastfeeding. The median time on an elimination diet before the OFC test was 8 months (Q1 6 - Q3 11 months). All cases with positive follow-up OFC tests (n= 18) had been exposed to cow's milk-based formula before the first clinical manifestation of CMA. Five out of eight cases with Food Protein-Induced Enterocolitis Syndrome (FPIES) had positive OFC tests. Exposure to cow's milk-based formula before diagnosis, a history of other food allergies, hematochezia and diarrhea were predictors of a positive OFC test. Conclusions In infants with non-IgE-mediated CMPA with gastrointestinal manifestations, the use of cow's milk-based formula, a history of other food allergies, and hematochezia and diarrhea upon initial presentation were associated factors for the later achievement of tolerance.

Fatores associados a um maior número de dilatações esofágicas em crianças com história de ingestão alcalina / Factors associated with a higher number of esophageal dilations in children with a history of alkaline ingestion

ABSTRACT Background: Children who experience alkaline injury are at risk for the development of esophageal strictures and the need for esophageal dilations. Objective: We aimed to assess predictors for a higher number of esophageal dilatations in children following alkali ingestion. Methods: Single-center retrospective cohort study including children who underwent esophagogastroduodenoscopy (EGD) after alkali ingestion. Possible predictive factors for the need for esophageal dilatations were evaluated. Results: A total of 34 patients were included, and 19 were female (55.9%). The median age at the time of the accidents was 20.6 months (IQR 15-30.7). All alkali ingestions were accidental, in all cases involving liquid products, and most (24/34; 70%) occurred at the child's home. Homemade liquid soap was the agent in half of the cases. The most frequently reported symptom at presentation was vomiting (22/34, 64.7%). The median follow-up time was 3.2 years (IQR 1.1-7.4). On follow-up, the median number of esophageal dilatations required for these patients was 12.5 (IQR 0-34). Among demographic factors, male gender (P=0.04), ingestion of homemade products (P<0.01), and accidents happening outside of the household environment (P=0.02) were associated with a greater number of esophageal dilations on follow-up. An endoscopic classification Zargar of 2B or higher (P=0.03), the presence of stricture at the time of the second EGD (P=0.01), and gastroesophageal reflux disease (GERD) as a late complication (P=0.01) were also associated with a greater number of esophageal dilations on long term follow-up. Conclusion: Beyond the endoscopic classification severity - a well-known risk factor for the strictures after alkali ingestions, we found that male gender, accidents with homemade products, and accidents occurring outside the household environment were significantly associated with a greater number of esophageal dilatations in the long-term follow-up of children following alkali ingestion.

RESUMO Contexto: Crianças que sofrem lesões cáusticas correm alto risco de desenvolver estenose esofágica e necessidade de dilatações esofágicas. Objetivo: Objetivamos avaliar preditores de necessidade de maior número de dilatações esofágicas em crianças, após uma ingestão cáustica. Métodos: Estudo de coorte retrospectivo de centro único incluindo crianças submetidas a esofagogastroduodenoscopia (EGD) após ingestão cáustica. Foram avaliados possíveis fatores preditivos para a necessidade de dilatações esofágicas. Resultados: Foram incluídos 34 pacientes, 19 do sexo feminino (55,9%). A idade mediana no momento dos acidentes foi de 20,6 meses (IQR 15-30,7). Todas as ingestões cáusticas foram incidentais, de substâncias líquidas, e a maioria dos acidentes (24/34; 70%) ocorreu no domicílio da criança. Em metade dos casos, a substância ingerida foi um sabão caseiro. O sintoma mais reportado na apresentação foi vômito (22/34 -64,7%). O tempo médio de acompanhamento foi de 3,2 anos (IQR 1,1- 7,4). No seguimento, o número médio de dilatações esofágicas necessárias foi de 12,5 (IQR 0-34). Entre os fatores demográficos, o sexo masculino (P=0,04), acidentes com produtos caseiros (P=<0,01) e a localização do acidente fora do ambiente domiciliar (P=0,02) foram associados a um maior número de dilatações esofágicas no seguimento. A classificação endoscópica Zargar 2B ou mais (P=0,03), a presença de estenose na segunda EGD (P=0,01) e a DRGE como complicação tardia (P=0,01) também se associaram a maior número de dilatações esofágicas no acompanhamento a longo prazo. Conclusão: Além da gravidade da classificação endoscópica - fator de risco bem conhecido para as estenoses após ingestão de cáusticos, observamos que o sexo masculino, os acidentes com produtos caseiros e os acidentes ocorridos fora do ambiente doméstico foram fatores significativamente associados a um maior número de dilatações esofágicas em acompanhamento em longo prazo de crianças após ingestão de soda cáustica.

INDUCED PROCTOCOLITIS - ORAL FOOD CHALLENGE SHOULD BE DONE TO CONFIRM THE DIAGNOSIS OF COW'S MILK ALLERGY IN NEONATES?

BACKGROUND: Suspicion of food protein-induced proctocolitis based on empirical understanding of rectal bleeding can lead to misdiagnosis. OBJECTIVE: to verify clinical and evaluative characteristics of patients who presented neonatal rectal bleeding and were on a restricted cow's milk diet. METHODS: A cross-sectional retrospective study included patients followed up in a tertiary care center, who presented rectal bleeding in the neonatal period. The analyzed data included gender, gestational age, type of delivery, use of antibiotics during the last trimester of pregnancy, use of parenteral nutrition before the first manifestation, use of mechanical ventilation, initial clinical manifestations associated with rectal bleeding, diet before the first manifestation, period of elimination diet, oral food challenge (OFC) results and symptoms presented in cases of positive OFC. Fisher's exact test and Mann-Whitney test were used to analyze the data. The level of significance was set to 5%. RESULTS: Forty-two patients were selected: 30 preterm infants, 34 cesarean deliveries, 10 exclusively breastfed patients before rectal bleeding. Median age at OFC was 6.3 months old. Median of length of the elimination period before OFC was 5.9 months. OFC was negative in 33/42 (79%) patients and positive in 9/42 (21%). There was no association between OFC results and the evaluated data. The main symptom observed in patients with positive OFC was blood in stools. CONCLUSION: OFC was negative in most cases of suspected cow's milk allergy due to rectal bleeding in neonates, most of them with a history of prematurity.

Proctocolite induzida por proteína alimentar - teste de provocação oral deve ser realizado para confirmar o diagnóstico de alergia ao leite de vaca em neonatos? / Induced proctocolitis - oral food challenge should be done to confirm the diagnosis of cow's milk allergy in neonates?

ABSTRACT Background: Suspicion of food protein-induced proctocolitis based on empirical understanding of rectal bleeding can lead to misdiagnosis. Objective: to verify clinical and evaluative characteristics of patients who presented neonatal rectal bleeding and were on a restricted cow's milk diet. Methods: A cross-sectional retrospective study included patients followed up in a tertiary care center, who presented rectal bleeding in the neonatal period. The analyzed data included gender, gestational age, type of delivery, use of antibiotics during the last trimester of pregnancy, use of parenteral nutrition before the first manifestation, use of mechanical ventilation, initial clinical manifestations associated with rectal bleeding, diet before the first manifestation, period of elimination diet, oral food challenge (OFC) results and symptoms presented in cases of positive OFC. Fisher's exact test and Mann-Whitney test were used to analyze the data. The level of significance was set to 5%. Results: Forty-two patients were selected: 30 preterm infants, 34 cesarean deliveries, 10 exclusively breastfed patients before rectal bleeding. Median age at OFC was 6.3 months old. Median of length of the elimination period before OFC was 5.9 months. OFC was negative in 33/42 (79%) patients and positive in 9/42 (21%). There was no association between OFC results and the evaluated data. The main symptom observed in patients with positive OFC was blood in stools. Conclusion: OFC was negative in most cases of suspected cow's milk allergy due to rectal bleeding in neonates, most of them with a history of prematurity.

RESUMO Contexto: A suspeita de proctocolite induzida por proteína alimentar (PCIPA) com base na compreensão empírica de sangramento retal pode levar a diagnósticos equivocados. Objetivo Verificar as características clínicas e evolutivas de pacientes que apresentavam sangramento retal neonatal e faziam uso de dieta restrita com leite de vaca. Métodos: Estudo transversal retrospectivo com pacientes acompanhados em um centro terciário, que apresentaram sangramento retal no período neonatal. Os dados analisados incluíram: sexo, idade gestacional, tipo de parto, uso de antibióticos no último trimestre da gravidez, uso de nutrição parenteral antes da primeira manifestação, uso de ventilação mecânica, manifestações clínicas iniciais associadas ao sangramento retal, dieta antes da primeira manifestação, período de dieta de eliminação, resultados do teste de provocação oral (TPO) e sintomas apresentados em casos de TPO positivo. O teste exato de Fisher e o teste de Mann-Whitney foram usados para analisar os dados. O nível de significância adotado foi de 5%. Resultados: Quarenta e dois pacientes foram selecionados: 30 prematuros, 34 partos cesáreos, 10 pacientes amamentadas exclusivamente antes do sangramento retal. A idade média na ocasião do TPO foi de 6,3 meses. A mediana da duração do período da dieta de eliminação antes do TPO foi de 5,9 meses. O TPO foi negativo em 33/42 (79%) pacientes e positivo em 9/42 (21%). Não houve associação entre os resultados do TPO e os dados avaliados. O principal sintoma observado em pacientes com TPO positivo foi sangue nas fezes. Conclusão: O TPO foi negativo na maioria dos casos de suspeita de alergia ao leite de vaca devido a sangramento retal em neonatos, a maioria deles com história de prematuridade.

Management of children with functional constipation referred to tertiary care

Abstract Objectives: To describe the management, to compare treatment at initial referral vs. during specialized follow-up, and to describe outcomes of children with functional constipation (FC) referred to a Brazilian tertiary care center. Methods: Retrospective study, including children (4-18 years) with FC followed at a single center from 2006 to 2019. Demographics, treatments, time of follow-up, and outcomes were analyzed. The management of FC followed an institutional protocol. Results: 104 patients were identified, 79 were eligible and included in the analysis: 59% male, mean age at referral was 6.4 years, and mean duration of symptoms was 4.4 years. There were significant changes in the therapy(ies) used at the time of referral compared to during follow-up, with a noticeable increase in the frequency of the use of polyethylene glycol, enemas, magnesium hydroxide, and bisacodyl; 5.1% received trans-anal irrigation, and 3.8% underwent surgery. Outcomes were favorable in more than half of the cases: 31% improved; 19.5% had complete resolution and 2.5% were transferred back to primary care. Symptoms remained unchanged in 30.4%, and no patients experienced worsening of symptoms. The mean duration of follow-up was 2.8 years. When comparing patients with favorable vs. unfavorable outcomes, the authors did not identify significant differences in gender, age, therapies used, duration of symptoms, or length of follow-up. Conclusions: Children with FC are often referred to specialized care not receiving optimal therapy. Many patients whose FC was labeled "refractory" may be treated successfully with a well-established plan of care, and do not truly present intractable constipation.

FUNCTIONAL ABDOMINAL PAIN IS THE MAIN ETIOLOGY AMONG CHILDREN REFERRED TO TERTIARY CARE LEVEL FOR CHRONIC ABDOMINAL PAIN.

BACKGROUND: Chronic abdominal pain (CAP) carries a significant burden of disease. The last edition of the Rome Criteria (Rome IV) allows the diagnosis of functional gastrointestinal disorders (FGIDs) according to symptoms-based criteria; however, patients continue to experience a delay in their diagnosis and to be submitted to different interventions before the establishment of a positive diagnosis. OBJECTIVE: We aimed to characterize etiology, clinical features, and interventions in a pediatric cohort of patients with CAP secondary to FGIDs, who were referred to our tertiary care university-affiliated hospital, in Brazil. METHODS: A retrospective descriptive study of children and adolescents (aged 20 years and younger) referred to our institution, from January/2013 to December/2018, for CAP, and who fulfilled criteria for FGIDs classified according to Rome IV criteria. RESULTS: Three hundred twenty-eight patients with CAP were screened, of which 67.9% (223 patients) fulfilled the criteria for FGIDs and were included in the study. Sixty percent were female, with a mean age of 8.3 years. At the time of referral, the mean duration of symptoms was 2.8 years. Length/height for age and weight for age mean z-scores were -0.08±1.87 and -0.38±1.62, respectively. Functional abdominal pain not otherwise specified was overall the most common diagnosis (70.4%). Before establishing the diagnosis of FGIDs, multiple pharmacological interventions were described, while after, the mainstay of therapy was education/reassurance and dietary interventions. Thirty-two percent of patients did not further require specialized follow-up. CONCLUSION: Even at the tertiary care level, FGIDs were still the most common etiology of chronic abdominal pain, particularly functional abdominal pain not otherwise specified. Despite the relatively long duration of symptoms at referral, cessation of specialized care follow-up was possible in approximately a third of the cases.

Patients with treated autoimmune hepatitis and persistent suppression of plasmacytoid dendritic cells: A different point of view.

Objectives: Plasmacytoid dendritic cells (pDCs) have been shown to have a role in autoimmune diseases, but their role in Autoimmune Hepatitis (AIH) is not completely clear. In the present study, we assessed the frequency of pDCs in peripheral blood of AIH patients under long-term standard immunosuppressive therapy. Methods: This cross-sectional analysis enrolled 27 AIH patients and 27 healthy controls. We analyzed and compared their proportion of pDCs, CD4+, CD8+, γδ T cells, CD25+ regulatory T (Treg) cells, FoxP3+, Foxp3+CD39+ Treg cells, total B (CD19+) cells, and plasma cells (CD38+) in peripheral blood using flow cytometry immunophenotyping. Results: AIH patients had a lower percentage of pDCs (median frequencies of 0.2% vs. 0.4%; p = .002) and higher expression of CD8 T cells (32.5% vs 28.6%; p = 0.008) in peripheral blood, when compared to healthy controls. We did not find statistically significant differences between the groups regarding the other cell subtypes.Conclusion: Our data suggest a persistent suppression of pDCs in AIH patients, along with increased CD8 T cell activity, years after AIH diagnosis and despite of good clinical response to treatment, thus pointing to a role of pDCs in the AIH pathogenesis.

Dor abdominal funcional é a principal etiologia em crianças encaminhadas ao nível de atenção terciária por dor abdominal crônica / Functional abdominal pain is the main etiology among children referred to tertiary care level for chronic abdominal pain

ABSTRACT Background Chronic abdominal pain (CAP) carries a significant burden of disease. The last edition of the Rome Criteria (Rome IV) allows the diagnosis of functional gastrointestinal disorders (FGIDs) according to symptoms-based criteria; however, patients continue to experience a delay in their diagnosis and to be submitted to different interventions before the establishment of a positive diagnosis. Objective We aimed to characterize etiology, clinical features, and interventions in a pediatric cohort of patients with CAP secondary to FGIDs, who were referred to our tertiary care university-affiliated hospital, in Brazil. Methods A retrospective descriptive study of children and adolescents (aged 20 years and younger) referred to our institution, from January/2013 to December/2018, for CAP, and who fulfilled criteria for FGIDs classified according to Rome IV criteria. Results Three hundred twenty-eight patients with CAP were screened, of which 67.9% (223 patients) fulfilled the criteria for FGIDs and were included in the study. Sixty percent were female, with a mean age of 8.3 years. At the time of referral, the mean duration of symptoms was 2.8 years. Length/height for age and weight for age mean z-scores were -0.08±1.87 and -0.38±1.62, respectively. Functional abdominal pain not otherwise specified was overall the most common diagnosis (70.4%). Before establishing the diagnosis of FGIDs, multiple pharmacological interventions were described, while after, the mainstay of therapy was education/reassurance and dietary interventions. Thirty-two percent of patients did not further require specialized follow-up. Conclusion Even at the tertiary care level, FGIDs were still the most common etiology of chronic abdominal pain, particularly functional abdominal pain not otherwise specified. Despite the relatively long duration of symptoms at referral, cessation of specialized care follow-up was possible in approximately a third of the cases.

RESUMO Contexto A dor abdominal crônica (DAC) pode acarretar importante morbidade. A última edição dos Critérios de Roma (Roma IV) permite o diagnóstico de distúrbios gastrointestinais funcionais (DGIFs) de acordo com critérios baseados em sintomas; no entanto, esses pacientes continuam a apresentar atraso no diagnóstico e a serem submetidos a diferentes intervenções antes do estabelecimento de um diagnóstico. Objetivo Caracterizar a etiologia, características clínicas e intervenções de crianças com DAC que não são mantidas na atenção primária e que foram encaminhadas ao nosso hospital universitário de nível terciário, no Brasil. Métodos Estudo retrospectivo descritivo de crianças e adolescentes (com idade igual ou inferior a 20 anos) encaminhados a nossa instituição, entre janeiro/2013 e dezembro/2018, por DAC e que preenchiam os critérios para DGIFs conforme o consenso de Roma IV. Resultados Trezentos e vinte e oito pacientes com DAC foram triados, 67,9% (223 pacientes) preencheram os critérios para DGIFs e foram analisados. Sessenta por cento do sexo feminino, com idade média de 8,3 anos. A duração média dos sintomas no encaminhamento era de 2,8 anos. Os escores z médios de estatura para idade e peso para idade foram -0,08±1,87 e -0,38±1,62, respectivamente. Dor abdominal funcional sem outra especificação foi o diagnóstico mais comum (70,4%). Antes do diagnóstico de DGIFs, múltiplas intervenções farmacológicas foram descritas, enquanto depois, a base da terapia foi a educação, passar segurança à família e intervenções dietéticas. Trinta e dois por cento dos pacientes apresentaram resolução dos sintomas e receberam alta do acompanhamento especializado. Conclusão Mesmo no nível terciário, as desordens gastrointestinais funcionais ainda constituem a etiologia mais comum da DAC, particularmente a dor abdominal funcional não especificada. Apesar da duração longa dos sintomas, alta do serviço especializados foi possível em aproximadamente um terço dos casos.

Management of children with functional constipation referred to tertiary care.

OBJECTIVES: To describe the management, to compare treatment at initial referral vs. during specialized follow-up, and to describe outcomes of children with functional constipation (FC) referred to a Brazilian tertiary care center. METHODS: Retrospective study, including children (4-18 years) with FC followed at a single center from 2006 to 2019. Demographics, treatments, time of follow-up, and outcomes were analyzed. The management of FC followed an institutional protocol. RESULTS: 104 patients were identified, 79 were eligible and included in the analysis: 59% male, mean age at referral was 6.4 years, and mean duration of symptoms was 4.4 years. There were significant changes in the therapy(ies) used at the time of referral compared to during follow-up, with a noticeable increase in the frequency of the use of polyethylene glycol, enemas, magnesium hydroxide, and bisacodyl; 5.1% received trans-anal irrigation, and 3.8% underwent surgery. Outcomes were favorable in more than half of the cases: 31% improved; 19.5% had complete resolution and 2.5% were transferred back to primary care. Symptoms remained unchanged in 30.4%, and no patients experienced worsening of symptoms. The mean duration of follow-up was 2.8 years. When comparing patients with favorable vs. unfavorable outcomes, the authors did not identify significant differences in gender, age, therapies used, duration of symptoms, or length of follow-up. CONCLUSIONS: Children with FC are often referred to specialized care not receiving optimal therapy. Many patients whose FC was labeled "refractory" may be treated successfully with a well-established plan of care, and do not truly present intractable constipation.

GASTROESOPHAGEAL REFLUX DISEASE IN INFANTS WHO PRESENTED BRIEF RESOLVED UNEXPLAINED EVENT (BRUE).

BACKGROUND: The term brief resolved unexplained events (BRUE) is a description of the acute event occurring in infants less than 1-year-old that includes at least one of the following characteristics: cyanosis or pallor; absent, decreased, or irregular breathing; marked change in tone or altered level of responsiveness. An investigative proceeding is required to identify the triggering phenomenon in those who are at high risk of complications. Prolonged esophageal pHmetry has been used as a tool in searching for gastroesophageal reflux disease (GERD) as one of the underlying etiologies. OBJECTIVE: The study aims to verify the frequency of GERD in infants up to 1-year-old, when pHmetry has been performed for investigating high-risk BRUE (HR-BRUE) and to analyze if clinical characteristics or any particular symptom related by caregivers during BRUE could be correlated to GERD. METHODS: It was performed a cross-sectional study. The data was collected retrospectively of patients less than 1-year-old, who had performed pHmetry in a tertiary hospital for investigating HR-BRUE between October 2008 and January 2018. For the analysis of medical records, a data collection protocol included: gender, age at the first HR-BRUE episode, age at the time of the pHmetry, gestational age, type of delivery (normal or caesarean) and birth weight and symptoms associated to HR-BRUE related by caregivers. Relation between variables were assessed using Fisher's exact test and Mann-Whitney test. The significance level was set at 0.05. RESULTS: A total of 54 infants were included (preterm 25, term 29), 62.9% males, median age at the HR-BRUE was 36 days, 53.7% HR-BRUE episodes had occurred during or right after feeding. According to pHmetry results: nine pHmetry results were considered inconclusive, physiological reflux (n=30) and GERD (n=15). The frequency of GERD diagnosed by pHmetry was 33%. GERD was not statistically related to gender (P-value=0.757), age at first HR-BRUE episode (P-value=0.960), age at the time of the pHmetry (P-value=0.720), prematurity (P-value=0.120) or type of delivery (P-value=0.738). GERD was statistically related to low birth weight (P-value=0.023). There was no association between symptoms reported by caregivers during HR-BRUE and GERD. CONCLUSION: GERD diagnosed by the pHmetry was found in one third of infants that experiencing a HR-BRUE, showing the importance of properly investigation. In half of infants BRUE occurred during or right after feeding. Besides low birth weight, it was not possible to select other data from the clinical history that suggest that these patients would be more likely to have GERD.

Doença do refluxo gastroesofágico em lactentes que apresentaram Eventos Resolvidos Breves Não Explicados - Brief Resolved Unexplained Event (BRUE) / Gastroesophageal reflux disease in infants who presented brief resolved unexplained event (brue)

ABSTRACT BACKGROUND: The term brief resolved unexplained events (BRUE) is a description of the acute event occurring in infants less than 1-year-old that includes at least one of the following characteristics: cyanosis or pallor; absent, decreased, or irregular breathing; marked change in tone or altered level of responsiveness. An investigative proceeding is required to identify the triggering phenomenon in those who are at high risk of complications. Prolonged esophageal pHmetry has been used as a tool in searching for gastroesophageal reflux disease (GERD) as one of the underlying etiologies. OBJECTIVE: The study aims to verify the frequency of GERD in infants up to 1-year-old, when pHmetry has been performed for investigating high-risk BRUE (HR-BRUE) and to analyze if clinical characteristics or any particular symptom related by caregivers during BRUE could be correlated to GERD. METHODS: It was performed a cross-sectional study. The data was collected retrospectively of patients less than 1-year-old, who had performed pHmetry in a tertiary hospital for investigating HR-BRUE between October 2008 and January 2018. For the analysis of medical records, a data collection protocol included: gender, age at the first HR-BRUE episode, age at the time of the pHmetry, gestational age, type of delivery (normal or caesarean) and birth weight and symptoms associated to HR-BRUE related by caregivers. Relation between variables were assessed using Fisher's exact test and Mann-Whitney test. The significance level was set at 0.05. RESULTS: A total of 54 infants were included (preterm 25, term 29), 62.9% males, median age at the HR-BRUE was 36 days, 53.7% HR-BRUE episodes had occurred during or right after feeding. According to pHmetry results: nine pHmetry results were considered inconclusive, physiological reflux (n=30) and GERD (n=15). The frequency of GERD diagnosed by pHmetry was 33%. GERD was not statistically related to gender (P-value=0.757), age at first HR-BRUE episode (P-value=0.960), age at the time of the pHmetry (P-value=0.720), prematurity (P-value=0.120) or type of delivery (P-value=0.738). GERD was statistically related to low birth weight (P-value=0.023). There was no association between symptoms reported by caregivers during HR-BRUE and GERD. CONCLUSION: GERD diagnosed by the pHmetry was found in one third of infants that experiencing a HR-BRUE, showing the importance of properly investigation. In half of infants BRUE occurred during or right after feeding. Besides low birth weight, it was not possible to select other data from the clinical history that suggest that these patients would be more likely to have GERD.

RESUMO CONTEXTO: O termo Eventos Resolvidos Breves Não Explicados (Brief Resolved Unexplained Event - BRUE) é uma descrição do evento agudo que ocorre em lactentes menores de 1 ano de idade que inclui pelo menos uma das seguintes características: cianose ou palidez; respiração ausente, diminuída ou irregular, alteração acentuada no tônus ou nível alterado de responsividade. É necessário um procedimento investigativo para identificar o fenômeno desencadeante naqueles que apresentam alto risco de complicações. A pHmetria esofágica prolongada tem sido usada como uma ferramenta na pesquisa de doença do refluxo gastroesofágico (DRGE) como uma das etiologias subjacentes. OBJETIVO: Este estudo tem como objetivo verificar a frequência da DRGE em lactentes de até 1 ano de idade, quando a pHmetria foi realizada para investigação da BRUE de alto risco, e analisar se alguma característica clínica ou sintoma particular relatado pelos cuidadores durante a BRUE poderia estar correlacionado a DRGE. MÉTODOS: Foi realizado um estudo observacional, transversal, cujos dados foram coletados retrospectivamente de pacientes menores de 1 ano de idade, que realizaram pHmetria em hospital terciário para investigação de BRUE de alto risco de outubro de 2008 e janeiro de 2018. Para a análise dos prontuários, um protocolo de coleta de dados incluiu: sexo, idade no primeiro episódio de BRUE de alto risco, idade no momento da pHmetria, idade gestacional, tipo de parto (normal ou cesárea), peso ao nascer e sintomas associados a alto risco-BRUE relatado por cuidadores. A relação entre as variáveis foi avaliada por meio do teste exato de Fisher, qui-quadrado e teste de Mann-Whitney. O nível de significância foi estabelecido em 0,05. RESULTADOS: Foram incluídos 54 lactentes (pré-termo 25, termo 29), 62,9% do sexo masculino, idade mediana na BRUE de alto risco foi de 36 dias. De acordo com o relatório do cuidador, 53,7% dos episódios de BRUE de alto risco ocorreram durante ou logo após a alimentação. Resultados da pHmetria: nove resultados da pHmetria foram considerados inconclusivos, refluxo fisiológico (n=30) e DRGE (n=15). A frequência de DRGE diagnosticada por pHmetria foi de 33%. A DRGE não foi estatisticamente relacionada ao sexo (P=0,757), idade no primeiro episódio de BRUE de alto risco (P=0,96), idade no momento da pHmetria (P=0,72) prematuridade (P=0,321) ou tipo de parto (P=0,738). A DRGE foi estatisticamente relacionada ao baixo peso ao nascer (P=0,023). Não houve associação entre os sintomas relatados pelos cuidadores durante BRUE de alto risco e o diagnóstico de DRGE. CONCLUSÃO: A DRGE diagnosticada pela pHmetria foi encontrada em um terço dos lactentes que vivenciaram BRUE de alto risco, mostrando a importância da investigação adequada. Em metade das crianças, o evento ocorreu durante ou logo após a alimentação. Além do baixo peso ao nascer, não foi possível selecionar outros dados da história clínica que sugiram que esses pacientes terão maior probabilidade de apresentar DRGE.

SYMPTOMATIC CHOLELITHIASIS AS THE PRESENTATION OF PEDIATRIC PRIMARY SCLEROSING CHOLANGITIS - CASE SERIES AND LITERATURE REVIEW.

BACKGROUND: Primary sclerosing cholangitis (PSC) is a rare hepatobiliary disorder, whose etiology remains not fully elucidated. Given how rare PSC is in childhood, until the recent publication of a multicenter international collaboration, even data on its characteristics and natural history were scarce. Symptomatic cholelithiasis has not been previously reported as the presentation of PSC. OBJECTIVE: The aim of this study was the diagnosis of PSC following the initial unusual presentation with symptomatic cholelithiasis, that followed an atypical clinical course that could not be explained by cholelithiasis alone. A literature review was also conducted. METHODS: We conducted a retrospective chart review of three patients, who were diagnosed and/or followed at the Clinics Hospital, University of Campinas - Sao Paulo/ Brazil, between 2014 and 2020. Data analyzed included gender, age of presentation, past medical history, imaging findings, laboratory results, endoscopic evaluation, response to medical therapy and follow-up. RESULTS: Age at time of presentation with cholelithiasis varied from 10 to 12 years. In two of the cases reported, a more subacute onset of symptoms preceded the episode of cholelithiasis. Two patients were managed with cholecystectomy, not followed by any surgical complications, one patient was managed conservatively. Percutaneous liver biopsy was performed in all three cases, showing histological findings compatible with PSC. Associated inflammatory bowel disease (IBD) was not seen in any of the patients. The patients have been followed for a mean time of 3.4 years. CONCLUSION: PSC and cholelithiasis are both rare in the pediatric population. This study reports on symptomatic cholelithiasis as a presentation of PSC and raises the importance of suspecting an underlying hepatobiliary disorder in children with cholelithiasis without any known predisposing factors and/or that follow an atypical clinical course for cholelithiasis alone.

Increased Prevalence of Left Lobe Atrophy in Long-standing Extrahepatic Portal Vein Obstruction.

OBJECTIVES: The aim of this study was to describe long-term changes in standard blood tests and ultrasound (US) findings in pediatric patients with Extrahepatic Portal Vein Obstruction (EHPVO) who have not undergone Meso-Rex Bypass (MRB) surgery. METHODS: US, laboratory, and endoscopic data of 77 patients were analyzed and compared at 2 different points in time: at initial workup and at most recent follow-up. Differences were assessed using McNemar and Wilcoxon tests, while correlations were evaluated using generalized estimating equations. RESULTS: Upper gastrointestinal bleeding was the most frequent initial manifestation of EHPVO, in 45.4% of subjects. The mean age at diagnosis was 4.3 years. Seventy-four percentage had a previous history of umbilical catheterization and/or neonatal sepsis. Over time, there was a significant increase in the prevalence of leukopenia, thrombocytopenia, and, interestingly, of left lobe atrophy (LLA), even though the number of esophageal varices and the need for endoscopic interventions reduced. A significant correlation was found between history of umbilical catheterization and LLA, splenomegaly and LLA, and gallbladder wall thickening and LLA. Overall, the number of patients with cholelithiasis at initial workup was low (and therefore, not analyzed with inferential statistics); however, we observed a relative increase over time. CONCLUSIONS: In this cohort of patients with EHPVO followed over more than 8 years without treatment with MRB, we report the novel finding of a significant increase in the prevalence of LLA over time. LLA correlated with past medical history of umbilical catheterization, and findings of splenomegaly and gallbladder wall thickening. We propose that that LLA should be further explored as a marker of portal hypertension, particularly in the context of a history of umbilical catheterization.

Colelitíase sintomática como apresentação de colangite esclerosante primária na infância - série de casos e revisão de literatura / Symptomatic cholelithiasis as the presentation of pediatric primary sclerosing cholangitis - case series and literature review

ABSTRACT BACKGROUND: Primary sclerosing cholangitis (PSC) is a rare hepatobiliary disorder, whose etiology remains not fully elucidated. Given how rare PSC is in childhood, until the recent publication of a multicenter international collaboration, even data on its characteristics and natural history were scarce. Symptomatic cholelithiasis has not been previously reported as the presentation of PSC. OBJECTIVE: The aim of this study was the diagnosis of PSC following the initial unusual presentation with symptomatic cholelithiasis, that followed an atypical clinical course that could not be explained by cholelithiasis alone. A literature review was also conducted. METHODS: We conducted a retrospective chart review of three patients, who were diagnosed and/or followed at the Clinics Hospital, University of Campinas - Sao Paulo/ Brazil, between 2014 and 2020. Data analyzed included gender, age of presentation, past medical history, imaging findings, laboratory results, endoscopic evaluation, response to medical therapy and follow-up. RESULTS: Age at time of presentation with cholelithiasis varied from 10 to 12 years. In two of the cases reported, a more subacute onset of symptoms preceded the episode of cholelithiasis. Two patients were managed with cholecystectomy, not followed by any surgical complications, one patient was managed conservatively. Percutaneous liver biopsy was performed in all three cases, showing histological findings compatible with PSC. Associated inflammatory bowel disease (IBD) was not seen in any of the patients. The patients have been followed for a mean time of 3.4 years. CONCLUSION: PSC and cholelithiasis are both rare in the pediatric population. This study reports on symptomatic cholelithiasis as a presentation of PSC and raises the importance of suspecting an underlying hepatobiliary disorder in children with cholelithiasis without any known predisposing factors and/or that follow an atypical clinical course for cholelithiasis alone.

RESUMO CONTEXTO: A colangite esclerosante primária (CEP) é uma doença hepatobiliar rara, cuja etiologia ainda não está totalmente elucidada. Dada a raridade do CEP na infância, até a recente publicação de uma colaboração multicêntrica internacional, mesmo dados sobre suas características e história natural eram escassos. A colelitíase sintomática não foi relatada anteriormente como a apresentação inicial de CEP na infância. OBJETIVO: O objetivo deste estudo foi o diagnóstico de CEP após a apresentação inicial incomum com colelitíase sintomática, que seguiu um curso clínico atípico que não poderia ser explicado apenas pela colelitíase. Também foi realizada uma revisão da literatura. MÉTODOS: Foi realizada uma revisão retrospectiva dos prontuários de três pacientes, que foram diagnosticados e/ou acompanhados no Hospital das Clínicas da Universidade Estadual de Campinas - São Paulo / Brasil, entre 2014 e 2020. Os dados analisados incluíram sexo, idade de apresentação, história médica pregressa, achados de imagem, resultados laboratoriais, avaliação endoscópica, resposta à terapia médica e acompanhamento. RESULTADOS: A idade no momento da apresentação da colelitíase variou de 10 a 12 anos. Em dois dos casos relatados, um início mais subagudo dos sintomas precedeu o episódio de colelitíase. Dois pacientes foram tratados com colecistectomia, não seguida de qualquer complicação cirúrgica, e um paciente foi tratado de forma conservadora. Biópsia hepática percutânea foi realizada em todos os três casos, mostrando achados histológicos compatíveis com CEP. Doença inflamatória intestinal associada não foi observada em nenhum dos pacientes. Os pacientes foram acompanhados por um tempo médio de 3,4 anos. CONCLUSÃO: CEP e colelitíase são raras na população pediátrica. Este estudo relata a colelitíase sintomática como uma apresentação de CEP e levanta a importância da suspeita de doença hepatobiliar subjacente em crianças com colelitíase sem quaisquer fatores predisponentes conhecidos e/ou que seguem um curso clínico atípico.

CASE-CONTROL STUDY ON VITAMIN D STATUS IN CHILDREN AND ADOLESCENTS WITH EOSINOPHILIC ESOPHAGITIS.

BACKGROUND: Vitamin D is an essential fat-soluble steroid hormone and vitamin D deficiency is a global public health problem especially among children and adolescents. Factors such as the low intake of vitamin D-rich food sources, poor absorption and less exposure to the sun influence this outcome. Vitamin D has an anti-inflammatory effect in the body by promoting regulatory T cell differentiation as well as recovering T helper 17 cell response and secretion of anti-inflammatory cytokines. Eosinophilic esophagitis (EoE) is a chronic disease, histologically characterized by predominantly eosinophilic inflammation. The most common therapeutic approaches are allergen-eliminating diets, such as excluding cow's milk, egg, soy, wheat, peanuts and seafood, or more specific dietary restrictions. OBJECTIVE: To verify the serum levels of vitamin D in children and adolescents with eosinophilic esophagitis on a restricted food diet and to analyze their association with nutritional status, consumption of different food sources, exposure to the sun and skin color. METHODS: Case-control study conducted in the city of Campinas-SP, Brazil, in which included patients were aged 2 to 18 years old, and those diagnosed with eosinophilic esophagitis was referred to as the case group (n=15), meanwhile a control group (n=17) was also formed. Epidemiological data, nutritional status, data on vitamin D intake (24-hour recall - performed only by EoE patients - and self-reported intake of vitamin D food sources: milk and dairy products, canned tuna and sardines, Bull's liver, chicken eggs - applied in both groups), and daily time of sun exposure (≥30 min or ≤30 min) were recorded. The samples were collected for serum levels of 25-hydroxy-vitamin D, where sufficiency levels >30 ng/mL were considered, insufficiency 21 to 30 ng/mL, deficiency <20 ng/mL. RESULTS: There was a higher frequency of vitamin D insufficiency/ deficiency in the Eosinophilic Esophagitis group (P=0.035), even with longer sun exposure (P= 0.035). Skin color was not associated with lower levels of vitamin D in both groups studied. No difference was found in nutritional status between the groups. CONCLUSION: The present study demonstrated a higher frequency of inadequate/ deficient levels of vitamin D in children and adolescents with EoE on a restricted diet. When necessary, serum levels should be investigated and correct exposure to the sun should be encouraged, with special attention to the recommended guidelines, time spent in the sun and the appropriate clothing for correct absorption. Since exposure for more than 30 minutes in the sun does not appear to have provided a protective effect in the EoE group, even in a region with high levels of solar radiation. There was a significant difference only in the consumption of cow's milk between the case and control groups, demonstrating the low adherence to the restriction diet by the case group. No association was found between serum 25 hydroxyvitamin D levels and nutritional status. Moreover, no association regarding the adequate or inadequate status of 25 hydroxyvitamin D and the consumption vitamin D-rich foods was identified. Multicentered studies with a larger number of cases should be performed to assess serum 25 hydroxyvitamin D levels and associated factors in pediatric patients with EoE.

Estudo caso-controle sobre o status da vitamina D em crianças e adolescentes com esofagite eosinofílica / Case-control study on vitamin d status in children and adolescents with eosinophilic esophagitis

ABSTRACT BACKGROUND: Vitamin D is an essential fat-soluble steroid hormone and vitamin D deficiency is a global public health problem especially among children and adolescents. Factors such as the low intake of vitamin D-rich food sources, poor absorption and less exposure to the sun influence this outcome. Vitamin D has an anti-inflammatory effect in the body by promoting regulatory T cell differentiation as well as recovering T helper 17 cell response and secretion of anti-inflammatory cytokines. Eosinophilic esophagitis (EoE) is a chronic disease, histologically characterized by predominantly eosinophilic inflammation. The most common therapeutic approaches are allergen-eliminating diets, such as excluding cow's milk, egg, soy, wheat, peanuts and seafood, or more specific dietary restrictions. OBJECTIVE: To verify the serum levels of vitamin D in children and adolescents with eosinophilic esophagitis on a restricted food diet and to analyze their association with nutritional status, consumption of different food sources, exposure to the sun and skin color. METHODS: Case-control study conducted in the city of Campinas-SP, Brazil, in which included patients were aged 2 to 18 years old, and those diagnosed with eosinophilic esophagitis was referred to as the case group (n=15), meanwhile a control group (n=17) was also formed. Epidemiological data, nutritional status, data on vitamin D intake (24-hour recall - performed only by EoE patients - and self-reported intake of vitamin D food sources: milk and dairy products, canned tuna and sardines, Bull's liver, chicken eggs - applied in both groups), and daily time of sun exposure (≥30 min or ≤30 min) were recorded. The samples were collected for serum levels of 25-hydroxy-vitamin D, where sufficiency levels >30 ng/mL were considered, insufficiency 21 to 30 ng/mL, deficiency <20 ng/mL. RESULTS: There was a higher frequency of vitamin D insufficiency/ deficiency in the Eosinophilic Esophagitis group (P=0.035), even with longer sun exposure (P= 0.035). Skin color was not associated with lower levels of vitamin D in both groups studied. No difference was found in nutritional status between the groups. CONCLUSION: The present study demonstrated a higher frequency of inadequate/ deficient levels of vitamin D in children and adolescents with EoE on a restricted diet. When necessary, serum levels should be investigated and correct exposure to the sun should be encouraged, with special attention to the recommended guidelines, time spent in the sun and the appropriate clothing for correct absorption. Since exposure for more than 30 minutes in the sun does not appear to have provided a protective effect in the EoE group, even in a region with high levels of solar radiation. There was a significant difference only in the consumption of cow's milk between the case and control groups, demonstrating the low adherence to the restriction diet by the case group. No association was found between serum 25 hydroxyvitamin D levels and nutritional status. Moreover, no association regarding the adequate or inadequate status of 25 hydroxyvitamin D and the consumption vitamin D-rich foods was identified. Multicentered studies with a larger number of cases should be performed to assess serum 25 hydroxyvitamin D levels and associated factors in pediatric patients with EoE.

RESUMO CONTEXTO: A vitamina D é um hormônio esteroide solúvel em gordura essencial e sua deficiência é um problema global de saúde pública, especialmente entre crianças e adolescentes. Fatores como baixa ingestão de fontes alimentares ricas em vitamina D, baixa absorção e menor exposição ao sol influenciam esse resultado. A vitamina D tem um efeito anti-inflamatório no organismo, promovendo a diferenciação regulatória das células T e recuperando a resposta das células T auxiliares 17 e a secreção de citocinas anti-inflamatórias. A esofagite eosinofílica (EoE) é uma doença crônica, caracterizada histologicamente por inflamação predominantemente eosinofílica. As abordagens terapêuticas mais comuns são as dietas eliminadoras de alérgenos, como a exclusão de leite de vaca, ovo, soja, trigo, amendoim e frutos do mar ou restrições alimentares mais específicas. OBJETIVO: Verificar os níveis séricos de vitamina D em crianças e adolescentes com EoE em dieta restrita e, analisar sua associação com estado nutricional, consumo de fonte alimentar, exposição ao sol e cor da pele. MÉTODOS: Estudo caso-controle realizado na cidade de Campinas-SP, Brasil, no qual foram incluídos pacientes com idades entre 2 e 18 anos; aqueles com diagnóstico de EoE foram referidos como grupo de casos (n=15); um grupo controle (n=17) também foi formado. Dados epidemiológicos, estado nutricional, dados sobre a ingestão de vitamina D (recordatório de 24 horas - realizado apenas por pacientes com EoE e ingestão autorreferida de fontes alimentares de vitamina D: leite e derivados, atum e sardinha enlatada, fígado de boi, ovos de galinha - aplicados em ambos os grupos) e o tempo diário de exposição ao sol (≥30 min ou ≤30 min) foi registrado. As amostras foram coletadas para níveis séricos de 25-hidroxi-vitamina D, onde foram considerados níveis de suficiência >30 ng/mL, insuficiência 21 a 30 ng/mL, deficiência <20 ng/mL. RESULTADOS: Houve maior frequência de insuficiência / deficiência de vitamina D no grupo EoE (P=0,035), mesmo com maior exposição ao sol (P=0,035). A cor da pele não foi associada a níveis mais baixos de vitamina D nos dois grupos estudados. Não foi encontrada diferença no estado nutricional entre os grupos. CONCLUSÃO: O presente estudo demonstrou maior frequência de níveis inadequados / deficientes de vitamina D em crianças e adolescentes com EEo em dieta restrita. Quando necessário, os níveis séricos devem ser investigados e a exposição correta ao sol deve ser incentivada, com atenção especial às diretrizes recomendadas, tempo gasto ao sol e roupas adequadas para a absorção correta. Já a exposição por mais de 30 minutos ao sol não parece ter proporcionado um efeito protetor no grupo EoE, mesmo em uma região com altos níveis de radiação solar. Houve diferença significativa apenas no consumo de leite de vaca entre os grupos caso e controle, demonstrando a baixa adesão à dieta de restrição pelo grupo caso. Não foi encontrada associação entre os níveis séricos de hidroxivitamina D 25 e o estado nutricional. Além disso, não foi identificada associação quanto ao status adequado ou inadequado da 25 hidroxivitamina D e ao consumo de alimentos ricos em vitamina D. Estudos multicêntricos com número maior de casos devem ser realizados para avaliar os níveis séricos de hidroxivitamina D 25 e fatores associados em pacientes pediátricos com EEo.

Manejo da síndrome de Peutz-Jeghers no contexto de recursos limitados / Peutz-jeghers syndrome in resource-limited scenario

ABSTRACT BACKGROUND: Peutz-Jeghers Syndrome (PJS) is a rare, autosomal dominant disease, caused by deletions in the chromosome 19p33.3/ gene LKB1/STK11. These mutations inactivate a serine/threonine kinase and predispose to carcinogenesis. In PJS, tumors of the gastrointestinal, testicles, pulmonary, breast, pancreas, uterus and ovaries can be found. OBJECTIVE: To evaluate demographics, clinical presentation and complication/outcomes of pediatric patients presenting with Peutz-Jeghers syndrome (PJS), as well as to present and discuss management in the context of limited resources. METHODS: We conducted a retrospective chart review of a cohort of six patients, who were diagnosed and/or followed at the Clinics Hospital, University of Campinas - Sao Paulo/Brazil, between 2000 and 2018. Data analyzed included gender, age of presentation, age of diagnosis, family history, PJS complications. RESULTS: Median age of diagnosis of 6.7 years, with a mean time of follow-up of 8.1 years. Mucocutaneous pigmentation was universally present. Half of the patients had a known family history at the time of diagnosis. On follow up, intestinal intussusception was documented in four out of six patients, in most (three), in different locations and in multiple occasions. The active investigation of siblings and parents of the index case led to the diagnosis of three first-degree relatives in the present case series. CONCLUSION: In this first pediatric PJS Brazilian case series, we report a wide spectrum of PJS manifestations and complications. In a resource limited scenario, despite limitations for the surveillance of complications, the relative frequency of complications was not higher than historically reported.

RESUMO CONTEXTO: A síndrome de Peutz-Jeghers (SPJ) é uma doença autossômica dominante rara, causada por deleções no cromossomo 19p33.3/gene LKB1/STK11. Essas mutações inativam uma serina/treonina quinase e predispõem à carcinogênese. Na SPJ, podem ser encontrados tumores do trato gastrointestinal, testicular, pulmonar, de mama, de pâncreas, de útero e de ovários. OBJETIVO: Avaliar dados demográficos, apresentação clínica e complicações de pacientes pediátricos que se apresentam com SPJ, além de apresentar e discutir o manejo no contexto de recursos limitados. MÉTODOS: Realizamos uma revisão retrospectiva de prontuários de uma coorte de seis pacientes, diagnosticados e/ou acompanhados no Hospital das Clínicas da Universidade de Campinas - São Paulo, Brasil, entre 2000 e 2018. Os dados analisados incluíram sexo, idade de apresentação, idade do diagnóstico, história familiar, complicações da SPJ. RESULTADOS: Idade média de diagnóstico de 6,7 anos, com tempo médio de seguimento de 8,1 anos. A pigmentação mucocutânea estava universalmente presente. Metade dos pacientes tinha um histórico familiar conhecido no momento do diagnóstico. Intussuscepção intestinal foi observada em quatro dos seis pacientes durante o período de acompanhamento, sendo que em três ocorreram vários episódios em diferentes múltiplas localizações. A investigação ativa de irmãos e pais do caso-índice levou ao diagnóstico de três parentes de primeiro grau na presente série de casos. CONCLUSÃO: Nesta primeira série de casos brasileiros de SPJ pediátrica, relatamos um amplo espectro de manifestações e complicações da SPJ. Em um contexto de recursos limitados, apesar das limitações para a vigilância de complicações, a frequência relativa de complicações não foi maior do que o relatado historicamente.

PEUTZ-JEGHERS SYNDROME IN RESOURCE-LIMITED SCENARIO.

BACKGROUND: Peutz-Jeghers Syndrome (PJS) is a rare, autosomal dominant disease, caused by deletions in the chromosome 19p33.3/ gene LKB1/STK11. These mutations inactivate a serine/threonine kinase and predispose to carcinogenesis. In PJS, tumors of the gastrointestinal, testicles, pulmonary, breast, pancreas, uterus and ovaries can be found. OBJECTIVE: To evaluate demographics, clinical presentation and complication/outcomes of pediatric patients presenting with Peutz-Jeghers syndrome (PJS), as well as to present and discuss management in the context of limited resources. METHODS: We conducted a retrospective chart review of a cohort of six patients, who were diagnosed and/or followed at the Clinics Hospital, University of Campinas - Sao Paulo/Brazil, between 2000 and 2018. Data analyzed included gender, age of presentation, age of diagnosis, family history, PJS complications. RESULTS: Median age of diagnosis of 6.7 years, with a mean time of follow-up of 8.1 years. Mucocutaneous pigmentation was universally present. Half of the patients had a known family history at the time of diagnosis. On follow up, intestinal intussusception was documented in four out of six patients, in most (three), in different locations and in multiple occasions. The active investigation of siblings and parents of the index case led to the diagnosis of three first-degree relatives in the present case series. CONCLUSION: In this first pediatric PJS Brazilian case series, we report a wide spectrum of PJS manifestations and complications. In a resource limited scenario, despite limitations for the surveillance of complications, the relative frequency of complications was not higher than historically reported.