Familial achalasia, a case report

BACKGROUNDAlthough achalasia is a relatively rare disease in pediatric age group, it must be considered for differential diagnosis of esophageal disorders in children with positive family history even in the absence of typical clinical manifestations. CASE PRESENTATIONA 5-month old boy was hospitali...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Iranian journal of pediatrics 2010, Vol.20 (2), p.233-236
Hauptverfasser: Motamed, Farzaneh, Modaresi, Vajiheh, Eftekhari, Kambiz
Format: Report
Sprache:eng
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:BACKGROUNDAlthough achalasia is a relatively rare disease in pediatric age group, it must be considered for differential diagnosis of esophageal disorders in children with positive family history even in the absence of typical clinical manifestations. CASE PRESENTATIONA 5-month old boy was hospitalized for cough and mild respiratory distress. Because of positive history of achalasia in his mother, achalasia was detected in esophgagography. Pneumatic dilation through endoscopy was successful. A 12-month follow-up revealed no problem. CONCLUSIONAchalasia must be considered for differential diagnosis in children with positive family history of achalasia even in the absence of typical clinical manifestations. An autosomal recessive mode of inheritance is probable. We suggest further researches and genetic studies to establish the pattern of inheritance.
ISSN:2008-2142