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Delayed diagnosis in Hirschsprung disease.
Pini Prato, Alessio; Erculiani, M; Novi, M L; Caraccia, M; Grandi, A; Casella, S; Giacometti, L; Montobbio, G; Mottadelli, G.
Afiliação
  • Pini Prato A; Umberto Bosio Center for Digestive Diseases, The Children Hospital, AOU SS Antonio e Biagio e Cesare Arrigo, Spalto Marengo, 46, 15121, Alessandria, Italy. apini@ospedale.al.it.
  • Erculiani M; Umberto Bosio Center for Digestive Diseases, The Children Hospital, AOU SS Antonio e Biagio e Cesare Arrigo, Spalto Marengo, 46, 15121, Alessandria, Italy.
  • Novi ML; Umberto Bosio Center for Digestive Diseases, The Children Hospital, AOU SS Antonio e Biagio e Cesare Arrigo, Spalto Marengo, 46, 15121, Alessandria, Italy.
  • Caraccia M; Umberto Bosio Center for Digestive Diseases, The Children Hospital, AOU SS Antonio e Biagio e Cesare Arrigo, Spalto Marengo, 46, 15121, Alessandria, Italy.
  • Grandi A; Umberto Bosio Center for Digestive Diseases, The Children Hospital, AOU SS Antonio e Biagio e Cesare Arrigo, Spalto Marengo, 46, 15121, Alessandria, Italy.
  • Casella S; Umberto Bosio Center for Digestive Diseases, The Children Hospital, AOU SS Antonio e Biagio e Cesare Arrigo, Spalto Marengo, 46, 15121, Alessandria, Italy.
  • Giacometti L; Umberto Bosio Center for Digestive Diseases, The Children Hospital, AOU SS Antonio e Biagio e Cesare Arrigo, Spalto Marengo, 46, 15121, Alessandria, Italy.
  • Montobbio G; Umberto Bosio Center for Digestive Diseases, The Children Hospital, AOU SS Antonio e Biagio e Cesare Arrigo, Spalto Marengo, 46, 15121, Alessandria, Italy.
  • Mottadelli G; Umberto Bosio Center for Digestive Diseases, The Children Hospital, AOU SS Antonio e Biagio e Cesare Arrigo, Spalto Marengo, 46, 15121, Alessandria, Italy.
Pediatr Surg Int ; 40(1): 65, 2024 Mar 04.
Article em En | MEDLINE | ID: mdl-38436753
ABSTRACT

INTRODUCTION:

Diagnostic delay in Hirschsprung disease is uncommon. Different definitions have been proposed but that of a diagnosis achieved after 12 months of age seems to be the most reliable and resorted to. Some authors reported a worse outcome in case of delay. Our study aims at providing the most relevant features of a series of patients who received a delayed diagnosis of Hirschsprung disease. MATERIALS AND

METHODS:

All consecutive patients admitted to our Center with a delayed diagnosis of Hirschsprung diseases between January 2017 and July 2023 have been retrospectively enrolled. Demographic data, phenotype, genotype, surgical complications, and outcome were assessed and compared to those of literature. A number of variables were also compared to those of a series of patients admitted during the same study period without a delayed diagnosis.

RESULTS:

A total of 45 patients were included (16.4% out of a series of 346 patients with data regarding age at diagnosis). Male to female ratio was 3.11. Median age at diagnosis was 41 months with a wide variation (range between 17 months and 58 years). All patients but 2 suffered from classic rectosigmoid aganglionosis. Normal meconium passage (58%) was reported in a significantly higher number of patients compared to what observed in a series without diagnostic delay (p = 0.0140). All other variables (associated anomalies, preoperative enterocolitis, complications, and functional outcome) proved not to have statistically significant differences compared to a series of patients without a diagnostic delay.

CONCLUSIONS:

The results of our study underline that a significant percentage of patients are basically missed in the neonatal period mostly due to mild symptoms. Overall outcome does not differ from that of patients without diagnostic delay. Nonetheless, we underline the importance of a throughout investigation of all patients with meconium delay/failure and that of adopting a low threshold for performing rectal suction biopsies in constipated children to avoid misdiagnosis to serve the best for our patients.
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Doença de Hirschsprung Limite: Child / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Pediatr Surg Int Assunto da revista: PEDIATRIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Itália

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Doença de Hirschsprung Limite: Child / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Pediatr Surg Int Assunto da revista: PEDIATRIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Itália