Achalasia is an uncommon esophageal motor disorder. It has been associated with other diseases such as Parkinson's disease and depressive disorders, but coincidence of achalasia and Down's syndrome is rare. We report five cases of achalasia in Down's syndrome patients seen in our institution. Two of the five cases were diagnosed at pediatric age. Respiratory symptoms and growth retardation were the main clinical manifestations in pediatric patients, whereas adult patients mainly complained of dysphagia. Taking into account the prevalence rate of both disorders, the association seems higher than that expected by chance. The possible etiopathogenic implications of this association, as well as its clinical relevance, are discussed.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1572-0241.1999.01161.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Infantile achalasia cardia: A rare case report of a 3-month-old female with recurrent pneumonia successfully treated with surgical intervention.
Int J Surg Case Rep
January 2025
Department of Pediatric Surgery, Tribhuvan University Teaching Hospital, Kathmandu, Nepal.
Introduction: Achalasia, a rare esophageal disorder with an annual incidence of 0.11 per 100,000 in children, is characterized by impaired lower esophageal sphincter (LES) relaxation and peristalsis. Infantile cases are extremely uncommon and often linked to genetic conditions like Allgrove and Down syndrome.
View Article and Find Full Text PDFQuality-of-life Assessment among Children with Esophageal Achalasia.
J Indian Assoc Pediatr Surg
November 2023
Department of General Pediatric Surgery, Mother and Child Unit, Mohammed VI University Hospital, Cadi Ayyad University, Marrakesh, Morocco.
Purpose: Analyze the surgical management strategy and the current effects on Quality of Life of diagnosed Esophageal Achalasia (EA) patients in our department, with an assessment of the incidence, clinical course, and related disorders.
Methods: Data was based on a retrospective review of all children who received achalasia treatment at our department between 2008 and 2022. Using the Pediatric Quality of Life Inventory Generic Core (PedsQL) Scales and the Pediatric-QL Gastrointestinal Symptoms Module (GI-PedsQL), we evaluated the long-term effects of this diagnosis on our patients' quality of life.
SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome.
Orphanet J Rare Dis
June 2023
Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy.
Background: Allgrove disease is a rare genetic syndrome characterized by adrenal insufficiency, alacrimia, achalasia and complex neurological involvement. Allgrove disease is due to recessive mutations in the AAAS gene, which encodes for the nucleoporin Aladin, implicated in the nucleocytoplasmic transport. The adrenal insufficiency has been suggested to rely on adrenal gland-ACTH resistance.
View Article and Find Full Text PDFFrequency and clinical characteristics of special types of achalasia in Japan: A large-scale, multicenter database study.
J Gastroenterol Hepatol
October 2021
Digestive Diseases Center, Showa University Koto Toyosu Hospital, Tokyo, Japan.
Background And Aim: Achalasia is a rare disease, with an incidence of one in 100 000. Genetic factors and autoimmune involvement have been reported in its etiology, and their involvement is strongly suspected, especially in patients with familial achalasia and those with comorbid hereditary or autoimmune diseases. However, these special types of achalasia are rare, and their frequency and clinical characteristics remain unclear.
View Article and Find Full Text PDFFeeding problems and gastrointestinal diseases in Down syndrome.
Arch Pediatr
January 2020
Institut Jerome-Lejeune, 37, rue des Volontaires, 75725 Paris cedex 15, France.
Background And Method: Feeding problems and gastrointestinal disorders are the most common anomalies in people with Down syndrome (DS) and have a significant impact on their daily life. This study lists the various anomalies on the basis of 504 references selected from a PubMed search in October 2018.
Results: The anomalies are grouped into three categories: anatomical anomalies: duodenal atresia and stenosis (3.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!