Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014848 (achalasia)
 2,804 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the case of a rare association between achalasia and Down syndrome in a child presenting with symptoms that suggest a gastroesophageal reflux. Evaluation of the patient with 24-hour multichannel intraluminal impedance and pH recording and upper endoscopy lead to the diagnosis of achalasia. However, the persistence of the symptoms after the concurrent surgical myomectomy and fundoplication has led to repeat pH-impedance monitoring testing and endoscopy, which identified the presence of gastroesophageal reflux disease. We emphasize in this paper the importance of multichannel intraluminal impedance and pH monitoring in detecting esophageal motility disorders.
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PMID:Esophageal Multichannel Intraluminal Impedance and pH Monitoring in the Evaluation of Achalasia and Gastroesophageal Reflux Disease in a Child with Down Syndrome: a Case Report. 2570 11

Up to 77% of Down syndrome (DS) patients have associated structural or functional gastrointestinal abnormalities. Functional disturbances, such as processes affecting the enteric nervous system, can often affect the outcome of corrective surgical procedures. Recently, an association between DS and achalasia has been reported. In this report we present a 28-year-old male patient with a history of Down syndrome and achalasia, who presented with recurrent dysphagia, gastroesophageal reflux, and recurrent aspirations. The patient had previously undergone a laparoscopic Heller myotomy with Dor fundoplication. Unfortunately, despite this surgery, he continued to require multiple esophageal dilations, and intraesophageal administration of Botox therapy. Additionally, there were numerous subsequent hospital admissions for recurrent aspiration pneumonia. Evaluation revealed an incomplete myotomy and a revision long Heller myotomy was successfully performed intraabdominally and he is now symptom and aspiration free.
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PMID:Redo Heller Myotomy for Achalasia in a Patient with Down Syndrome: a Case Report. 2624 27

Achalasia cardia is a disorder of the gastrointestinal tract characterized by dilatation of the oesophagus and collection of food and fluids in the oesophagus leading to massive regurgitation and aspiration of gastric contents. Down's syndrome has multisystem effects which can also present as difficult airway. Here, we present a case of a 14-year-old girl, a case of Down's syndrome with Achalasia cardia and mitral valve prolapse posted for Heller's cardiomyotomy. Anaesthetic concerns were difficult airway due to Downs's syndrome, massive aspiration risks of Achalasia cardia and haemodynamic instability due to mitral regurgitation. In spite of proper preparation of the patient there was massive regurgitation of oesophageal contents during intubation which was managed successfully. Haemodynamic changes due to mitral valve prolapse also had to be taken care of during the intraoperative period. Postoperative period was uneventful and the child was discharged after one week.
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PMID:Anaesthetic Management of a Case of Down's Syndrome with Achalasia Cardia. 2789 27


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