Case Report
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World J Gastroenterol. Jan 28, 2014; 20(4): 1114-1118
Published online Jan 28, 2014. doi: 10.3748/wjg.v20.i4.1114
Family case of achalasia cardia: Case report and review of literature
Yulia Viktorovna Evsyutina, Alexander Sergeevich Trukhmanov, Vladimir Trophimovich Ivashkin
Yulia Viktorovna Evsyutina, Alexander Sergeevich Trukhmanov, Vladimir Trophimovich Ivashkin, Department of Internal Disease Propaedeutics, Gastroenterology and Hepatology, Sechenov First Moscow State Medical University, Moscow 119991, Russian Federation
Author contributions: Ivashkin VT designed the report; Evsyutina YuV was attending doctor for the patient; Trukhmanov AS performed pneumatic dilatation and performed image diagnosis; Ivashkin VT organized the report; and Evsyutina YuV wrote paper.
Correspondence to: Ivashkin Vladimir Trophimovich, PhD, Professor, Department of Internal Disease Propaedeutics, Gastroenterology and Hepatology, Sechenov First Moscow State Medical University, Pogodinskaya str., 1/1, Moscow 119991, Russian Federation. gastro@orc.ru
Telephone: +7-926-5288648 Fax: +7-499-2483610
Received: July 28, 2013
Revised: September 7, 2013
Accepted: September 16, 2013
Published online: January 28, 2014
Abstract

Achalasia cardia is an idiopathic disease that occurs as a result of inflammation and degeneration of myenteric plexi leading to the loss of postganglionic inhibitory neurons required for relaxation of the lower esophageal sphincter and peristalsis of the esophagus. The main symptoms of achalasia are dysphagia, regurgitation, chest pain and weight loss. At present, there are three main hypotheses regarding etiology of achalasia cardia which are under consideration, these are genetic, infectious and autoimmune. Genetic theory is one of the most widely discussed. Case report given below represents an inheritable case of achalasia cardia which was not diagnosed for a long time in an 81-year-old woman and her 58-year-old daughter.

Keywords: Achalasia cardia, Dysphagia, Regurgitation, Gene polymorphism, Gastrostomy

Core tip: We report an inheritable case of achalasia cardia in an 81-year-old woman and her 58-year-old daughter with early manifestation of the disease at 23 and 25 years of age, respectively, and further progression of achalasia cardia which led to its decompensation and resulted in gastrostomy in the woman which was performed when she was 79-year-old.