Late Diagnosis of Hirschsprung Disease: Clinical Presentation and Long-Term Functional Outcomes

Ostertag-Hill, Claire A.; Nandivada, Prathima; Dickie, Belinda H.

doi:10.1016/j.jpedsurg.2023.10.018

Cited by 3 publications

(8 citation statements)

References 25 publications

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“…Hirschsprung disease is typically diagnosed during the neonatal period, and its recognition after the first year of life is rare in medical literature. Pediatricians may face challenges in diagnosing Hirschsprung disease, as fewer than 10% of cases present with clinical symptoms, often resulting in delayed referrals and a lack of apparent clinical indicators [5,6]. In rare instances, Hirschsprung disease may present concurrently with sigmoid volvulus, leading to acute intestinal obstruction [7][8][9].…”

Section: Discussionmentioning

confidence: 99%

“…Government schemes can help with free medical checkups in affiliation with tertiary health centers [17]. Clinical management decisions in cases of late-diagnosed Hirschsprung disease should prioritize ruling out the condition through various diagnostic modalities to avoid adverse outcomes [6,8,16,18]. A timely and accurate diagnosis is paramount for reducing morbidity and mortality through prompt intervention.…”

Section: Discussionmentioning

confidence: 99%

“…Diagnosis of Hirschsprung disease commonly occurs in neonates, often identified by the characteristic inability to pass meconium within the first days of life [4,5]. When diagnosis is delayed until after the first year of life, it is considered a late diagnosis, which is rare but associated with an increased risk of complications later in life, although the literature presents mixed evidence [6]. This case involves a 9-year-old boy admitted with abdominal distension, ultimately diagnosed with Hirschsprung disease.…”

Section: Introductionmentioning

confidence: 99%

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Chronic Constipation Unmasking as Hirschsprung Disease in a Preadolescent: Delayed Presentation or Delayed Diagnosis?

Bhargava,

Khedkar

2024

Cureus

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Hirschsprung disease, a rare genetic disorder affecting the enteric nervous system, is characterized by the absence of ganglion cells in the myenteric plexus. Typically identified in neonates due to the failure to pass meconium, diagnosis beyond the first year of life is considered delayed. Common clinical manifestations in children with late-onset Hirschsprung disease include abdominal distension, abdominal pain, vomiting, fever, and abnormal bowel sounds. Sigmoid volvulus, though uncommon, can complicate Hirschsprung disease, potentially leading to misdiagnosis and severe complications such as intestinal perforation, hemorrhage, sepsis, and even mortality. Non-surgical interventions such as antibiotic therapy, intestinal decompression, and fluid resuscitation are preferred initial treatments to stabilize the patient. This case involves a 9-year-old boy who has presented with abdominal distension since birth and a lengthy history of irregular bowel habits. The diagnosis of Hirschsprung disease was confirmed at our institution, and the patient underwent a two-stage repair procedure, which was completed without any intraoperative or postoperative complications. The patient experienced an uneventful recovery, was discharged with stable vital signs, and regained normal bowel function. This case highlights the challenges of delayed diagnosis at nine years and underscores the importance of prompt management.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Chronic Constipation Unmasking as Hirschsprung Disease in a Preadolescent: Delayed Presentation or Delayed Diagnosis?

Bhargava,

Khedkar

2024

Cureus

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“…É uma patologia em que há retardo de eliminação meconial, distenção abdominal progressiva e vômitos. Essa patologia é diagnosticada por biópsia retal que mostra a ausência de células ganglionares, o tratamento é cirúrgico, sendo necessário a confecção da colostomia, possui uma incidência aproximada de 1:5.000 nascidos vivos, predominante em sexo masculino em uma proporção 4:1 (Oliveira et al, 2018;Ostertag-Hill et al, 2023).…”

Section: Categoria 1 -Recém-nascidos E Lactenteunclassified

Interfaces das estomias intestinais nos ciclos de vida

Pedrosa,

Souza,

Ribeiro

et al. 2024

Braz. J. of Sci.

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O termo Qualidade de Vida apesar de não possuir uma definição consensual, se baseia na percepção individual de um completo bem-estar físico, mental e social que permeia um conceito dinâmico, amplo, subjetivo e polissêmico. O indivíduo estomizado necessita de cuidados pós-operatórios e ajuda nas tarefas do dia a dia, além do autocuidado e interações sociais para se manter psicologicamente e fisicamente saudável já que são inúmeras mudanças nos hábitos e rotina de vida. A partir dessa perspectiva, surge o seguinte questionamento para o estudo: Quais os impactos da estomia nos diferentes ciclos de vida? O objetivo dessa pesquisa foi analisar a repercussão da confecção de um estoma intestinal de pacientes em diferentes estágios da vida, colaborando para a atualização do conhecimento em múltiplas asserções. Trata-se de um estudo descritivo, qualitativo do tipo análise reflexiva, elaborado a partir revisão da literatura sobre as “interfaces das estomia intestinais nos ciclos de vida”. Para tanto, foi realizada uma revisão narrativa. Os estudos de revisão narrativa são publicações com a finalidade de descrever e discutir o estado da arte de um determinado assunto. Os resultados obtidos por meio da revisão de literatura permitem dizer que a qualidade de vida das pessoas com estomia é um aspecto fundamental para a sua saúde física, emocional e social. Em cada ciclo de vida, as pessoas estomizadas enfrentam desafios específicos que afetam a sua rotina e sua forma de se relacionar na sociedade. Por fim, é importante destacar que a qualidade de vida das pessoas com ostomias não é apenas uma questão de escolha do dispositivo ideal, mas também de acesso a cuidados de saúde adequados e de políticas públicas que garantam o acesso a dispositivos e materiais de qualidade. É importante que esses indivíduos estejam sempre sendo acompanhados por uma equipe multiprofissional, junto com uma rede de apoio familiar propiciando o autocuidado, e a manutenção de sua autoimagem.

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“…Більшість випадків АК діагностуються в неонатальному періоді, коли в новонароджених виявляються клінічні ознаки низької кишкової непрохідності, зокрема, блювання жовчю, здуття живота та відсутність виділення меконія протягом перших 24-48 годин після народження. Ректальне обстеження може продемонструвати напруженість анального сфінктера та вибухове виділення газів і випорожнення [10,15]. Проте, незважаючи на відносно типову клінічну картину ХГ від народження, не завжди вдається вчасно встановити діагноз цього захворювання та розпочати його лікування до початку тяжких ускладнень.…”

Section: вступunclassified

Clinical symptoms of colonic aganglionosis and its complications in children 3 to 6 years of age

Prytula,

Kurtash,

Rybalchenko

et al. 2024

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Clinical symptoms of colonic aganglionosis (CA) in children 3 to 6 years of age are difficult due to its clinical presentation which represents as the complications of this pathology, because of it the classic signs of Hirschsprung’s disease (HD) are partially eliminated or hidden, which makes it difficult for the effective diagnosis of this pathology in these children. Purpose - to study the clinical symptoms of CA and its complications in children 3 to 6 years of age and to determine the significance of clinical symptoms for the verification of HD. Materials and methods. We have done retrospective analysis of the clinical manifestations in 240 children 3 to 6 years of age with HD, considering the extent of CA, the presence of associated malformations and complications. There were 95 (39.58%) patients with the rectal form of CA, 143 (59.59%) with the rectosigmoid form, 2 (0.83%) with the subtotal form. There were no patients with total CA in this age group. There were 192 boys (80.0%), and 48 girls (20.0%). At the age of 3-4 years 71 (29.58%) patients were diagnosed with HD, at the age of 4-5 years - 79 (32.91%), and at the age of 5-6 years - 90 (37.51%) patients. Results. The diagnosis of HD can be of course considered as late for patients from 3 to 6 years of age. We found associated malformations in 45 (18.75%) patients. Associated intestinal malformations were found in 26 (10.83%) patients, of which 19 (7.92%) had malformations that significantly increased the clinical symptoms of CA and its complications: malrotation (n=17 (7.08%)) and internal abdominal hernia (2 (0.83%)). Enterocolitis (EC) was found in 98 (40.83%) patients. The 1st degree of EC was established in 9 (3.75%) children, 2nd degree - in 34 (14.16%) and 3rd degree - in 55 (22.91%) patients. Among these 55 with 3rd degree of EC the critical moment in the progression of the course of EC was toxic megacolon (TM), which occurred in 14 (25.46%). Hypotrophy was established in 18 (7.49%) patients. Anemia of various degrees was diagnosed in 35 (14.58%) children. The acute stage of the course of HD was diagnosed in 98 (40.83%) patients, subacute - in 77 (32.08%) and chronic - in 65 (27.08%) children. The clinical course of HD was correlated with the extent of the colon affected with CA and is closely related to the presence of its complications: EC, anemia and hypotrophy. Conclusions. Clinical symptoms of CA in children aged 3 to 6 years remains typical and informative upon careful evaluation of complaints, medical history, and objective and laboratory results. The severity of the course, associated developmental malformations and late diagnosis are the main reasons for the appearance of severe complications of HD in children 3 to 6 years of age - EC (40.83%), TM (25.46%), hypotrophy (7.49%) and anemia (14.58%). Variants of complications in CA are characteristic and predictable. Comparison of the clinical signs of CA and its complications contribute to the correct assessment of the patient's condition and timely establishment of the correct diagnosis. The research was carried out in accordance with the principles of the Declaration of Helsinki. The research protocol was approved by the Local Ethics Committee of all institutions mentioned in the work. Informed consent of the children’s parents was obtained for the research. No conflict of interests was declared by the authors.

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Late Diagnosis of Hirschsprung Disease: Clinical Presentation and Long-Term Functional Outcomes

Cited by 3 publications

References 25 publications

Chronic Constipation Unmasking as Hirschsprung Disease in a Preadolescent: Delayed Presentation or Delayed Diagnosis?

Chronic Constipation Unmasking as Hirschsprung Disease in a Preadolescent: Delayed Presentation or Delayed Diagnosis?

Interfaces das estomias intestinais nos ciclos de vida

Clinical symptoms of colonic aganglionosis and its complications in children 3 to 6 years of age

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