Delayed diagnosis of congenital duodenal obstruction in early adolescence in a patient with Down syndrome and autism spectrum disorder

Congenital duodenal obstruction (CDO) is a recognised anomaly frequently associated with Down syndrome (DS). While complete obstruction is typically diagnosed in the neonatal period, incomplete obstruction may present with milder, non-specific symptoms, often delaying diagnosis.We report a boy in early adolescence with DS and autism spectrum disorder (ASD) in whom CDO was diagnosed in adolescence. Since early childhood, his eating behaviour was restricted to finely chopped foods, initially interpreted as a behavioural feature related to DS and ASD. This likely masked gastrointestinal symptoms and contributed to the delayed recognition of CDO. It is also possible that subclinical duodenal obstruction became symptomatic as food intake increased during puberty.This case highlights the importance of considering incomplete CDO in children with DS, especially those with ASD, when persistent feeding difficulties are present-particularly if attributed solely to developmental or sensory issues.

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Publication Details

Journal
BMJ Case Reports
Published
2026-04-01
DOI
https://doi.org/10.1136/bcr-2025-268532
Primary Topic
Intestinal Malrotation and Obstruction Disorders
Type
article
Field-Weighted Citation Impact
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article

Delayed diagnosis of congenital duodenal obstruction in early adolescence in a patient with Down syndrome and autism spectrum disorder

Hiroyuki Iijima, Akira Ishiguro, Takanobu Maekawa, Ikumi Sako
BMJ Case Reports
Intestinal Malrotation and Obstruction Disorders
article

Delayed diagnosis of congenital duodenal obstruction in early adolescence in a patient with Down syndrome and autism spectrum disorder

Hiroyuki Iijima, Akira Ishiguro, Takanobu Maekawa, Ikumi Sako
article en

Abstract

Congenital duodenal obstruction (CDO) is a recognised anomaly frequently associated with Down syndrome (DS). While complete obstruction is typically diagnosed in the neonatal period, incomplete obstruction may present with milder, non-specific symptoms, often delaying diagnosis.We report a boy in early adolescence with DS and autism spectrum disorder (ASD) in whom CDO was diagnosed in adolescence. Since early childhood, his eating behaviour was restricted to finely chopped foods, initially interpreted as a behavioural feature related to DS and ASD. This likely masked gastrointestinal symptoms and contributed to the delayed recognition of CDO. It is also possible that subclinical duodenal obstruction became symptomatic as food intake increased during puberty.This case highlights the importance of considering incomplete CDO in children with DS, especially those with ASD, when persistent feeding difficulties are present-particularly if attributed solely to developmental or sensory issues.

BMJ Case ReportsVol. 19(4)
National Center of Neurology and Psychiatry (JP), National Center For Child Health and Development (JP), National Disaster Medical Center (JP)
Zero hunger
Openalex Percentile: Top 19%
Intestinal Malrotation and Obstruction Disorders
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