Cutaneous vasculitis in ulcerative colitis mimicking Henoch-Schönlein purpura.

To the best of our knowledge, no cases of ulcerative colitis (UC) mimicking Henoch-Schönlein purpura (HSP) have been reported so far. During a 28-year period 5635 patients were followed up at our Pediatric Rheumatology Unit and 357 had HSP according to the European League Against Rheumatism, the Paediatric Rheumatology International Trials Organisation and the Paediatric Rheumatology European Society validated classification criteria. At the same period, 148 patients with IBD according to the European Society for Paediatric Gastroenterology, Hepatology and Nutrition criteria were followed up at the Pediatric Gastroenterology Unit in our University Hospital. Only two of them had vasculitis, as an extra intestinal manifestation of UC mimicking HSP, and fulfilled both disease criteria. A 2-year old girl had bloody diarrhoea, severe abdominal pain, arthritis in ankles, petechiae and palpable purpura not related to thrombocytopenia in lower limbs. A 5-year old boy had bloody diarrhoea, palpable purpura in buttocks, lower limbs, penis and scrotum associated with arthritis in knees, orchitis in right testicle and periarticular swelling in hands and feet. Their ileocolonoscopy showed diffuse mucosal erythema, oedema, friability and multiple irregular ulcers, and histopathological examination of colonic specimen revealed diffuse chronic mucosal inflammation, crypt distortion and crypt abscesses suggesting ulcerative colitis. There were no signs of intestinal vasculitis in both cases. In conclusion, this is the first study in a paediatric population that evidenced palpable purpura associated with UC mimicking HSP.

Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy.

BACKGROUND & AIMS: Homozygous loss of function mutations in interleukin-10 (IL10) and interleukin-10 receptors (IL10R) cause severe infantile (very early onset) inflammatory bowel disease (IBD). Allogeneic hematopoietic stem cell transplantation (HSCT) was reported to induce sustained remission in 1 patient with IL-10R deficiency. We investigated heterogeneity among patients with very early onset IBD, its mechanisms, and the use of allogeneic HSCT to treat this disorder. METHODS: We analyzed 66 patients with early onset IBD (younger than 5 years of age) for mutations in the genes encoding IL-10, IL-10R1, and IL-10R2. IL-10R deficiency was confirmed by functional assays on patients' peripheral blood mononuclear cells (immunoblot and enzyme-linked immunosorbent assay analyses). We assessed the therapeutic effects of standardized allogeneic HSCT. RESULTS: Using a candidate gene sequencing approach, we identified 16 patients with IL-10 or IL-10R deficiency: 3 patients had mutations in IL-10, 5 had mutations in IL-10R1, and 8 had mutations in IL-10R2. Refractory colitis became manifest in all patients within the first 3 months of life and was associated with perianal disease (16 of 16 patients). Extraintestinal symptoms included folliculitis (11 of 16) and arthritis (4 of 16). Allogeneic HSCT was performed in 5 patients and induced sustained clinical remission with a median follow-up time of 2 years. In vitro experiments confirmed reconstitution of IL-10R-mediated signaling in all patients who received the transplant. CONCLUSIONS: We identified loss of function mutations in IL-10 and IL-10R in patients with very early onset IBD. These findings indicate that infantile IBD patients with perianal disease should be screened for IL-10 and IL-10R deficiency and that allogeneic HSCT can induce remission in those with IL-10R deficiency.

Clinical features and prevalence of gastroesophageal reflux disease in infants attending a pediatric gastroenterology reference service.

CONTEXT: In infants, it is not always easy to distinguish between pathological and physiological gastroesophageal reflux based only on clinical criteria. In Brazil, studies about gastroesophageal reflux disease in infants are few and are even rare those that used prolonged esophageal pH monitoring for its evaluation. OBJECTIVE: To describe the clinical features of gastroesophageal reflux disease and to determine its prevalence in infants with gastroesophageal reflux attending a tertiary Pediatric Gastroenterology Service and submitted to esophageal pH monitoring for investigation. METHODS: Descriptive study in 307 infants in whom esophageal pH monitoring (Mark III Digitrapper, Synectics Medical AB, Sweden) was performed during the period December, 1998-December, 2008. The clinical features studied were age group (1-12 months and 13-24 months), and clinical manifestations that motivated the indication of pH monitoring. RESULTS: One hundred twenty-four (40.4%) were female and 183 (59.6%) male with mean age 12.2 +/- 6.2 months (1-23 months). The prevalence of gastroesophageal reflux disease was 18.2% (56/307). One hundred forty-eight (48.2%) were 1-12 months old and 159 (51.8%), 13-24 months. No significant difference was found between the prevalence of these two age groups (P = 0.3006). Gastroesophageal reflux disease was more frequent in those with digestive manifestations (24.2%), crisis of cyanosis/apnea (23.8%) and mixed manifestations (21.5%). Respiratory manifestations were the most frequent indication (39.1%) of pH monitoring. However, the prevalence of gastroesophageal reflux disease was lower (12.5%) in this group compared with in those with digestive manifestations (P = 0.0574), crisis of cyanosis/apnea (P = 0.0882) and mixed manifestations (P = 0.1377). All infants that presented clinical manifestations as crisis of cyanosis/apnea and abnormal pH-metry were < 3 months of age. CONCLUSIONS: In our Service, the prevalence of gastroesophageal reflux disease associated with acid reflux in infants revealed elevated. Infants with crisis of cyanosis/apnea constitute risk population for gastroesophageal reflux disease in which diagnostic investigation needs to be considered.

Clinical features and prevalence of gastroesophageal reflux disease in infants attending a pediatric gastroenterology reference service / Doença do refluxo gastroesofágico associada ao refluxo ácido em lactentes atendidos em um serviço de referência de gastroenterologia pediátrica

CONTEXT: In infants, it is not always easy to distinguish between pathological and physiological gastroesophageal reflux based only on clinical criteria. In Brazil, studies about gastroesophageal reflux disease in infants are few and are even rare those that used prolonged esophageal pH monitoring for its evaluation. OBJECTIVE: To describe the clinical features of gastroesophageal reflux disease and to determine its prevalence in infants with gastroesophageal reflux attending a tertiary Pediatric Gastroenterology Service and submitted to esophageal pH monitoring for investigation. METHODS: Descriptive study in 307 infants in whom esophageal pH monitoring (Mark III Digitrapper, Synectics Medical AB, Sweden) was performed during the period December, 1998-December, 2008. The clinical features studied were age group (1-12 months and 13-24 months), and clinical manifestations that motivated the indication of pH monitoring. RESULTS: One hundred twenty-four (40.4 percent) were female and 183 (59.6 percent) male with mean age 12.2 ± 6.2 months (1-23 months). The prevalence of gastroesophageal reflux disease was 18.2 percent (56/307). One hundred forty-eight (48.2 percent) were 1-12 months old and 159 (51.8 percent), 13-24 months. No significant difference was found between the prevalence of these two age groups (P = 0.3006). Gastroesophageal reflux disease was more frequent in those with digestive manifestations (24.2 percent), crisis of cyanosis/apnea (23.8 percent) and mixed manifestations (21.5 percent). Respiratory manifestations were the most frequent indication (39.1 percent) of pH monitoring. However, the prevalence of gastroesophageal reflux disease was lower (12.5 percent) in this group compared with in those with digestive manifestations (P = 0.0574), crisis of cyanosis/apnea (P = 0.0882) and mixed manifestations (P = 0.1377). All infants that presented clinical manifestations as crisis of cyanosis/apnea and abnormal pH-metry were < ...

CONTEXTO: Em lactentes, nem sempre é fácil diferenciar o refluxo gastroesofágico fisiológico do patológico baseado somente em dados clínicos. No nosso meio, são escassos os estudos sobre doença do refluxo gastroesofágico em lactentes, sendo ainda mais raros os que tenham utilizado a pHmetria esofágica prolongada para a sua avaliação. OBJETIVO: Descrever os aspectos clínicos da doença do refluxo gastroesofágico e determinar a sua prevalência em uma população de lactentes com refluxo gastroesofágico atendida e submetida a pHmetria esofágica num serviço terciário de gastroenterologia pediátrica. Métodos - Estudo descritivo em 307 lactentes submetidos a pHmetria esofágica (Digitrapper MKIII, Synectics Medical AB, Sweden) no período de dezembro de 1998 a dezembro de 2008. Os aspectos clínicos analisados foram: faixa etária (1-12 m e 13-24 m) e manifestações clínicas que motivaram a indicação de pHmetria. RESULTADOS: Cento e vinte e quatro (40,4 por cento) eram meninas e 183 (59,6 por cento) meninos, com idade média de 12,2 ± 6,2 m (1-23 m). A prevalência de doença do refluxo gastroesofágico foi de 18,2 por cento (56/307). Cento e quarenta e oito (48,2 por cento) tinham idades entre 1-12 m e 159 (51,8 por cento), 13-24 m. Não houve diferença significativa entre as prevalências observadas nessas duas faixas etárias (P = 0,3006). Doença do refluxo gastroesofágico foi mais frequentemente detectada nos lactentes com manifestações digestivas (24,2 por cento), crises de cianose/apneia (23,8 por cento) e manifestações mistas (21,5 por cento). Manifestações respiratórias motivaram maior percentagem (39,1 por cento) de indicação de pHmetria. Entretanto, a prevalência de doença do refluxo gastroesofágico nesse grupo (12,5 por cento) resultou menor quando comparada com a de manifestações digestivas (P = 0,0574), crises de cianose/apneia (P = 0,0882) e mistas (P = 0,1377). Todos lactentes que apresentaram manifestações clínicas sob forma de crises de cianose/apneia ...

Prevalence of celiac disease in Brazilian children and adolescents with type 1 diabetes mellitus.

OBJECTIVE: A previously unrecognized high prevalence of celiac disease (CD) has been found by screening among European and North American patients with type 1 diabetes mellitus (DM 1). The prevalence of CD among Brazilian children with DM1 is not known. This study was conducted to determine the prevalence of CD in Brazilian children and adolescents with DM 1. METHODS: One hundred and four children and adolescents with DM 1 (52 males and 52 females; age range 22 months - 19 years) and 105 age and gender-matched control participants were screened for CD using the IgA anti-endomysial antibody test (IgA-EmA) and total serum IgA. A small bowel biopsy was performed in all patients with positive IgA-EmA. RESULTS: Nine of 104 diabetic patients (8.7%) had a positive IgA-EmA. Biopsies were normal in four patients, two had partial or subtotal villous atrophy with elevated intraepithelial lymphocyte (IEL) counts, and three showed partial villous atrophy but with IEL counts under the maximum limit adopted (40 IEL/100 enterocytes). EmA-IgA positive patients had mild, non-specific gastrointestinal complaints including dyspepsia, abdominal pain, flatulence and constipation. All control participants had negative results for IgA-EmA. CONCLUSION: The prevalence of CD in a group of Brazilian pediatric DM 1 patients was at least 4.8%, a prevalence comparable to European and North American studies. The high prevalence of CD among DM 1 emphasizes the need for routine screening in all countries including Brazil.

Familial hyperamylasemia.

A 7-year-old white boy was referred to us with a history of 3 attacks of hypogastric pain over the previous 2 years and persistently elevated serum amylase concentrations. At physical examination, he was well with no evidence of clinical abnormalities. His weight and height were normal. Laboratory diagnostic investigations were all normal except for the presence of Ascaris lumbricoides in the feces and persistently elevated serum amylase levels. Serum amylase determinations in the family members were normal in his father and maternal grandmother but elevated in his mother, sister, maternal aunt, and uncle, all of whom asymptomatic. Macroamylasemia was excluded in the child and in the mother. The finding of persistently elevated amylasemia in the child and in the other family members spanning 3 generations, and the exclusion of diseases that lead to hyperamilasemia are consistent with the diagnosis of familial hyperamylasemia. Until now, only 1 similar case has been reported. Familial hyperamylasemia must be considered in the differential diagnosis of hyperamylasemias in childhood.

Familial hyperamylasemia

A 7-year-old white boy was referred to us with a history of 3 attacks of hypogastric pain over the previous 2 years and persistently elevated serum amylase concentrations. At physical examination, he was well with no evidence of clinical abnormalities. His weight and height were normal. Laboratory diagnostic investigations were all normal except for the presence of Ascaris lumbricoides in the feces and persistently elevated serum amylase levels. Serum amylase determinations in the family members were normal in his father and maternal grandmother but elevated in his mother, sister, maternal aunt, and uncle, all of whom asymptomatic. Macroamylasemia was excluded in the child and in the mother. The finding of persistently elevated amylasemia in the child and in the other family members spanning 3 generations, and the exclusion of diseases that lead to hyperamilasemia are consistent with the diagnosis of familial hyperamylasemia. Until now, only 1 similar case has been reported. Familial hyperamylasemia must be considered in the differential diagnosis of hyperamylasemias in childhood

Efeito da cisaprida na constipacao intestinal cronica funcional em criancas / Effect of cisapride on chronic functional constipation in children

O objetivo foi avaliar os efeitos da cisaprida no tratamento de criancas com constipacao intestinal cronica funcional (CICF). Estudaram-se 26 criancas, 10 meninas e 16 meninos com idades de...

Dietas em pediatria clínica

Relata a intolerância à lactose e o procedimento dietético após a confirmaçäo da intolerância secundária, com a suspensäo da lactose e da posterior reintroduçäo gradual. A adaptaçäo de cardápios de acordo com os recursos financeiros e hábitos alimentares. Inclui tabelas de alimentos (MC)

Variation and physiological significance of basal gastrinemia in normal children

É verificada a variaçäo dos volumes da gastrinemia basal em crianças brasileiras de diferentes faixas etárias. Níveis basais de gastrinemia foram determinados por radioimunoensaio, em 30 crianças normais, de idade variando de 2 meses a 9 anos, divididas em três grupos: 1) 11 crianças de 2 a 6 meses; 2) nove crianças de 7 a 18 meses, e 3) 10 crianças de 20 meses a 9 anos. Os niveis de gastrinemia basal variaram de 11-533 pg/ml (x = 139,46 D.P. = 131,55). Houve correlaçäo estatisticamente significante entre estes valores e as idades das crianças. A diferença das médias mostrou-se estatisticamente näo significante entre os grupos 1(x=191,82 e D.P. = 116,26) e 2(x = 186,11 e D.P. = 161,65), porém significante entre os grupos 1 e 3 (x = 36,9 e D.P. = 17,67), assim como entre os grupos 2 e 3. Os resultados demonstram que os níveis basais de gastrinemia em crianças normais variam inversamente com a idade, sendo os maiores valores observados na faixa etária até 18 meses. A seguir ocorre diminuiçäo acentuada da gastrinemia basal atingindo níveis semelhantes aos referidos para adultos. Os autores especulam se a hipergastrinemia observada no presente estudo näo seria indicativo de uma importante funçäo fisiológica no desenvolvimento ontogenético do estômago

Uso de nova fórmula de soja no tratamento da síndrome diarréica pós-enterite / Use of a soybean new formula in the treatment of post-enteritis diarrheic syndrome

Os autores realizam um ensaio clínico com a fórmula dietética 3654-A, à base de soja, modificada a partir da fórmula original Sobee (substituiçäo da sacarose pelo dextrino-maltose e acréscimo de metionina). A fórmula foi usada como alimento exclusivo por período de 2 meses no tratamento de 15 lactentes (idade de 21 dias a 3 meses) portadores de síndrome diarréica pós-enterite. Os resultados mostraram boa resposta clínica com controle da diarréia e ausência de intolerância à fórmula em 14 lactentes. Em todos os pacientes dados antropométricos de peso, estatura, perímetro craneano e pregas cutâneas apresentaram aumento significante de seus valores. Os dados laboratoriais de hematócrito, uréia, hemoglobina, clorom, sódio, potássio, cálcio e fósforo permaneceram normais, abservando-se aumento significante dos valores de albumina

Assistente social e nutricionista em abordagem conjunta na assistência ambulatorial às crianças submetidas a dietas restritas e por tempo prolongado / Social assistants and nutritionists in continuous approach in ambulatorial assistance of children submitted to restricted and protracted diets

Relatam-se suas experiências segundo dois modelos de atendimento de crianças submetidas a tratamento dietético. Numa primeira fase, o atendimento era feito de acordo com as normas vigentes, com entrevistas individualizadas pela assistente social e pela nutricionista. Após dois anos de atendimento com esse método, verificou-se que os resultados obtidos näo correspondiam aos objetivos da Unidade, cuja expectativa incluía: que a criança seguisse rigorosamente a dieta, que tivesse uma boa evoluçäo clínica, que mantivesse um processo normal de socializaçäo e que a família näo alterasse seus hábitos. Diante da resposta näo satisfatória, os autores decidem pela mudança de modelo de atendimento, que passa entäo a ser de forma conjunta-nutricionista, assistente social, cliente e família. Após um ano, esse novo modelo é avaliado e comparado com o anterior e os seus resultados mostram que o esquema de atendimento conjunto é mais eficiente e altamente satisfatório

Analise da evolucao de peso e estatura e da idade ossea em 27 criancas celiacas. / Analysis of weight, height and bone age development in 27 celiac children

Os autores analisaram a evolucao do peso e da estatura e da idade ossea em 27 criancas celiacas antes e apos o tratamento especifico. No periodo pre-tratamento, 48% das criancas apresentaram desnutricao de primeiro, 33% de segundo e 11% de terceiro grau. O tempo para a normalizacao do peso variou de 2 a 16 meses. A altura foi comprometida em 78% das criancas no periodo pre-tratamento; 33% de grau leve e 45% severo. O tempo para a normalizacao da estatura variou de 3 a 36 meses. A idade ossea atrasada foi encontrada em 10% das criancas no periodo pre-tratamento. Dois anos apos o tratamento, ela se apresentou normal em todas as criancas. Os autores concluem que, apesar de ser o peso o parametro nutricional mais frequentemente comprometido na doenca celiaca nao tratada, foi o que mais rapidamente atingiu os valores de normalidade apos o tratamento