Diagnóstico e tratamento tardio da doença de Hirschsprung: relato de caso
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Arquivos
Data
2023-11
Tipo de documento
Monografia
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Título de Volume
Área do conhecimento
Modalidade de acesso
Acesso aberto
Editora
Autores
MARIANO, Carolina Sodré
FONSECA, Jéssica Rayane Corrêa Silva da
OLIVEIRA, Isabel Cristina da Silva
GOMES, Lara de Barros Wanderley
Orientador
LOPES, Suyanne Thyerine da Silva
Coorientador
Resumo
A doença de Hirschsprung (DH) é definida como um distúrbio da motilidade intestinal causada pela falha das células da crista neural em migrar durante o desenvolvimento intestinal fetal. Não há sinais radiológicos patognomônicos da afecção e o diagnóstico definitivo somente pode ser obtido pelo estudo histopatológico. Alguns pacientes podem apresentar a doença em sua forma menos grave e, neste caso, o diagnóstico é tardio. A intervenção cirúrgica imediata é de máxima importância e tem como principais objetivos ressecar o segmento afetado do reto e cólon, trazer o intestino ganglionar normal para uma anastomose no reto distal, próximo ao ânus, e resguardar a função do esfíncter anal interno. Por meio dos relatos de casos, pretende-se apresentar os aspectos clínicos que requerem investigação para a doença e elucidar a abordagem e o tratamento realizado pela equipe médica de coloproctologia do Hospital Baleia. Tendo como propósito a divulgação de maiores informações sobre o diagnóstico precoce e tratamento adequado para essa afecção, o relato irá versar sobre duas pacientes do sexo feminino, de 15 e 16 anos, portadoras de Doença de Hirschsprung, com histórico de constipação crônica, distensão abdominal, cólicas frequentes, hábito intestinal prejudicado e tentativa de melhora dos sintomas com uso de laxativos, supositório e clister. Ambas foram submetidas à retossigmoidectomia abdominal, para o tratamento. A coleta de dados ocorreu por meio da análise dos prontuários, após autorização declarada dos responsáveis e das pacientes. A pesquisa teve início após a autorização do Comitê de Ética em Pesquisa do Hospital da Baleia, Declaração de Aceite em Participar e aplicação de Termo de Consentimento Livre e Esclarecido. Também foi realizada uma revisão da literatura a fim de melhor compreensão do quadro clínico descrito. Através desses métodos, foram coletados dados importantes em relação aos sinais e sintomas das pacientes, epidemiologia, fatores de riscos, propedêutica adequada, opções de tratamento, evolução do quadro e possíveis impactos na qualidade de vida dos indivíduos.
Hirschsprung's disease (HSCR) is defined as a gastrointestinal motility disorder resulting from defective migration of the neural crest cells during fetal intestinal development. There are no pathognomonic radiological signs for such a condition, and definitive diagnosis can only be obtained by histopathological examination. Some patients may present a milder form of this disease, leading to late diagnosis. Immediate surgical intervention is of utmost importance and its main objectives are resecting the affected segment of the rectum and colon, bringing the normal ganglionated intestine to an anastomosis in the distal rectum near the anus, and preserving the internal anal sphincter role. Through medical case reports evaluation, it is aimed to present the clinical aspects that require investigation for the disease under study and to elucidate the approach and treatment carried out by the coloproctology medical team of the Hospital Baleia, Belo Horizonte, Brazil. To disseminate further information regarding early diagnosis and appropriate treatment for HSCR, the present work is focused on two female patients, aged 15 and 16, diagnosed with Hirschsprung's disease, both with a case history of chronic constipation, abdominal distension, frequent colic, impaired bowel habits, and attempts to alleviate symptoms with laxatives, suppositories, and enemas. Both patients underwent abdominal rectosigmoidectomy as a treatment. Data was collected by analyzing medical records, following consent from the patients and their legal guardians. It is worth mentioning that this research was only initiated after obtaining approval from the Ethics and Research Committee of Baleia Hospital and obtaining the Informed Consent and Acceptance Declaration from the patients and their legal guardians. In addition, a literature review was also conducted to improve the understanding of the described disorder. Through these methods, substantial data were collected regarding patients' medical signs and symptoms, epidemiology, risk factors, proper diagnostic procedures, treatment options, disease progression, and potential impacts on individuals' quality of life.
Hirschsprung's disease (HSCR) is defined as a gastrointestinal motility disorder resulting from defective migration of the neural crest cells during fetal intestinal development. There are no pathognomonic radiological signs for such a condition, and definitive diagnosis can only be obtained by histopathological examination. Some patients may present a milder form of this disease, leading to late diagnosis. Immediate surgical intervention is of utmost importance and its main objectives are resecting the affected segment of the rectum and colon, bringing the normal ganglionated intestine to an anastomosis in the distal rectum near the anus, and preserving the internal anal sphincter role. Through medical case reports evaluation, it is aimed to present the clinical aspects that require investigation for the disease under study and to elucidate the approach and treatment carried out by the coloproctology medical team of the Hospital Baleia, Belo Horizonte, Brazil. To disseminate further information regarding early diagnosis and appropriate treatment for HSCR, the present work is focused on two female patients, aged 15 and 16, diagnosed with Hirschsprung's disease, both with a case history of chronic constipation, abdominal distension, frequent colic, impaired bowel habits, and attempts to alleviate symptoms with laxatives, suppositories, and enemas. Both patients underwent abdominal rectosigmoidectomy as a treatment. Data was collected by analyzing medical records, following consent from the patients and their legal guardians. It is worth mentioning that this research was only initiated after obtaining approval from the Ethics and Research Committee of Baleia Hospital and obtaining the Informed Consent and Acceptance Declaration from the patients and their legal guardians. In addition, a literature review was also conducted to improve the understanding of the described disorder. Through these methods, substantial data were collected regarding patients' medical signs and symptoms, epidemiology, risk factors, proper diagnostic procedures, treatment options, disease progression, and potential impacts on individuals' quality of life.
Palavras-chave
Doença de Hirschsprung, Aganglionose colônica, Megacólon Congênito