Abstract Introduction Most cases of colorectal cancer (CRC) occur sporadically; however, ~3% to 6% of all CRCs are related to inherited syndromes, such as Lynch syndrome and familial adenomatous polyposis (FAP). The adenomatous polyposis coli (APC) andmutY DNA glycosylase (MUTYH) germline mutations are the main genetic causes related to colorectal polyposis. Nevertheless, in many cases mutations in these genes have not been identified. The aim of the present case report is to describe a rare case of genetic colorectal polyposis associated with the axis inhibition protein 2 (AXIN2) gene. Case Report The first colonoscopy screening of a 61-year-old male patient with no known family history of CRC revealed ~ 50 colorectal polyps. A histological evaluation of the resected polyps showed low-grade tubular adenomas. Germline genetic testing through a multigene panel for cancer predisposition syndromes revealed a pathogenic variant in the AXIN2 gene. In addition to colorectal polyposis, the patient had mild features of ectodermal dysplasia: hypodontia, scant body hair, and onychodystrophy. Discussion The AXIN2 gene acts as a negative regulator of the Wnt/β -catenin signaling pathway, which participates in development processes and cellular homeostasis. Further studies are needed to support the surveillance recommendations for carriers of the AXIN2 pathogenic variant.

Resumo Objetivo: Relatar caso de neonato com episódios de apneias recorrentes, diagnosticado com síndrome de hipoventilação central congênita (SHCC) associada à doença de Hirschsprung (DH), o que configurou síndrome de Haddad. Descrição do caso: Terceiro filho de casal não consanguíneo, nascido a termo, parto normal sem intercorrências, peso e comprimento adequados para idade gestacional. Logo após o nascimento apresentou bradipneia, bradicardia e cianose, foi submetido à intubação orotraqueal e iniciada antibioticoterapia empírica devido à suspeita de sepse neonatal precoce. Durante internação em UTI neonatal evoluiu com dificuldade de extubação devido a episódios de dessaturação durante sono e vigília. Apresentou quadros recorrentes de hipoglicemia, hiperglicemia, acidose metabólica, distensão abdominal, leucocitose, aumento de proteína C reativa, com hemoculturas negativas e suspeita de erro inato do metabolismo. Aos dois meses foi diagnosticada doença de Hirschsprung de segmento longo, foi submetido à ressecção do segmento e colostomia à Hartmann. Feita pesquisa genética por reação em cadeia da polimerase para pesquisa de SHCC, que evidenciou alelo mutado do gene PHOX2B e confirmou o diagnóstico. Comentários: Trata-se de doença genética rara, de herança autossômica dominante, causada por mutação no gene PHOX2B, localizado na banda cromossômica 4p12, que resulta em disfunção do sistema nervoso autônomo. A SHCC também pode cursar com doença de Hirschsprung e tumores derivados da crista neural. Há correlação entre fenótipo e genótipo, além de grande variabilidade fenotípica intrafamiliar. No período neonatal pode simular quadros de sepse e erros inatos do metabolismo.

Abstract Objective: To report the case of a newborn with recurrent episodes of apnea, diagnosed with Congenital Central hypoventilation syndrome (CCHS) associated with Hirschsprung's disease (HD), configuring Haddad syndrome. Case description: Third child born at full-term to a non-consanguineous couple through normal delivery without complications, with appropriate weight and length for gestational age. Soon after birth he started to show bradypnea, bradycardia and cyanosis, being submitted to tracheal intubation and started empiric antibiotic therapy for suspected early neonatal sepsis. During hospitalization in the NICU, he showed difficulty to undergo extubation due to episodes of desaturation during sleep and wakefulness. He had recurrent episodes of hypoglycemia, hyperglycemia, metabolic acidosis, abdominal distension, leukocytosis, increase in C-reactive protein levels, with negative blood cultures and suspected inborn error of metabolism. At 2 months of age he was diagnosed with long-segment Hirschsprung's disease and was submitted to segment resection and colostomy through Hartmann's procedure. A genetic research was performed by polymerase chain reaction for CCHS screening, which showed the mutated allele of PHOX2B gene, confirming the diagnosis. Comments: This is a rare genetic, autosomal dominant disease, caused by mutation in PHOX2B gene, located in chromosome band 4p12, which results in autonomic nervous system dysfunction. CCHS can also occur with Hirschsprung's disease and tumors derived from the neural crest. There is a correlation between phenotype and genotype, as well as high intrafamilial phenotypic variability. In the neonatal period it can simulate cases of sepsis and inborn errors of metabolism.

Mucosite é a complicação oral mais comum do tratamento de algumas doenças malignas, podendo causar a necessidade de modificações terapêuticas, o que pode interferir com o prognóstico da doença. Muitas tentativas têm sido feitas com o intuito de desenvolver um tratamento ou método preventivo para minimizar a severidade da mucosite oral. Vários estudos têm mostrado bons resultados com o uso do laser de baixa potência, devido à aceleração do processo de cicatrização das lesões e da promoção do alívio da dor. Métodos: Os pacientes que desenvolveram mucosite oral durante tratamento quimioterápico e/ou radioterápico (n=18), foram submetidos a aplicações de laser de baixa potência até que fosse atingida a cessação dos sintomas. A severidade da mucosite foi avaliada através de uma escala baseada em características clínicas e de uma escala para avaliação de toxicidade oral desenvolvida pelo Instituto Nacional do Cancer, baseada na habilidade de deglutição; a dor foi avaliada através de uma escala visual, antes e depois de cada aplicação. Resultados: Alívio imediato da dor após a primeira aplicação foi referido por 66.6% dos pacientes. Com base na escala funcional, mucosite grau III (incapacidade de ingerir alimentos sólidos) foi reduzida em 42.85% dos casos. De acordo com a escala baseada em aspectos clínicos, mucosite grau IV (presença de úlceras) foi reduzida em 75% dos pacientes que apresentavam essa condição no início da terapia com laser. Conclusões: O laser de baixa potência foi bem tolerado pelos pacientes, e mostrou efeitos benéficos durante o manejo da mucosite oral, melhorando a qualidade de vida dos pacientes durante o tratamento oncológico.

Background. Oral mucositis is a common complication of some malignancies treatment, causing therapeutic modifications due to patient's debilitation, which often interferes with the prognosis of the disease. Many attempts have been made to find an optimal treatment or preventive method to minimize the severity of oral mucositis. Several studies have shown good results with the use of low-energy laser, with the aim of accelerating the process of wound healing and promoting pain relief. Methods. Patients (n=18) who developed oral mucositis during chemotherapy and/or radiotherapy were submitted to low-energy laser applications until cessation of symptoms. Mucositis severity was scored by an oral mucositis scale based on clinical features and by an oral toxicity scale from the National Cancer Institute based on the ability to swallow; pain severity was scored by subjects on a visual analogue scale before and after the applications. Results. Immediate pain relief was achieved in 66.6% of the patients after the first application. Based on the functional scale, mucositis grade III (not capable to eat solids) was reduced in 42.85% of the cases. According to the scale based on the clinical features, mucositis grade IV (ulcerative lesions) was reduced in 75% of the patients that presented this grade of mucositis at the beginning of laser therapy. Conclusions. Low-energy laser was well-tolerated and showed beneficial effects on the management of oral mucositis, improving the quality of life during the oncologic treatment.