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

In a patient with progressive dysphagia, postprandial vomiting, and a history of Alport syndrome, barium and manometric studies had been interpreted as consistent with achalasia, but a subsequent computed tomographic (CT) scan of the thorax was suggestive of a lower esophageal intramural mass. Multiple leiomyomas of the esophagus were later proved at thoracotomy. Differences between adult and pediatric leiomyomas and the association of leiomyomas with Alport syndrome are discussed.
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PMID:Diffuse esophageal leiomyomatosis in a patient with Alport syndrome: CT demonstration. 200 73

Diffuse esophageal leiomyomatosis is characterized by diffuse muscular hypertrophy chiefly marked in the lower end of the esophagus looks at a large tumor. It involves the entire length of the esophagus and down to the upper part of the stomach (esogastric leiomyomatosis). Diffuse leiomyomatosis is a extremely rare pathology encountered in children (13 previous report cases) and young adults. Il may be isolated or found in association with other intrathoracic and genital localisations or Alport syndrome (nephropathy, sensorineural deafness, ocular lesions). Extensive leiomyomatosis, engulfing the trachea and stem bronchi, may involve acute respiratory insufficiency. Genital localisations, exclusively in women (clitoral hypertrophy, vulvar leiomyomatosis), in association with esophageal leiomyomatosis, realize the esophago vulvar syndrome. Recently, familial diffuse leiomyomatosis cases were described with, in association, esophageal and extra-esophageal leiomyomatosis and Alport syndrome. The majority of the patients developed esophageal or respiratory symptoms. The radiological appearance is that of a mediastinal tumor or achalasia. CT Scans findings can give evidence diffuse muscular thickening of esophageal wall. Prognosis depends on the associated lesions. In that reports, two young adults (27 and 39 years old) died of inhabitual carcinomas (esophageal and gallbladder carcinoma). The only surgical treatment for symptomatic esogastric leiomyomatosis is subtotal esophagectomy with proximal gastrectomy and esocoloplasty. Myotomy is ineffective (2 cases). Five cases of esophageal leiomyomatosis are described (3 children, 2 young adults). Among these, two are familial leiomyomatosis cases. An esophageal resection was performed in four patients.
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PMID:[Diffuse esophageal leiomyomatosis. Apropos of 5 cases with 2 familial cases]. 261 74

We describe a 25-year-old woman with diffuse esophageal leiomyomatosis. During childhood, achalasia was mistakenly diagnosed in this patient. Subsequently, she underwent cardiomyotomy and developed symptoms of Hirschsprung disease. These symptoms were caused by infiltration of the esophageal and rectal walls by benign muscular hypertrophy. The pseudo-Hirschsprung disorder was manifested by chronic severe constipation, with consistent manometric findings. Clitoral hypertrophy and vulvar and periurethral leiomyoma were also present. Genetic analysis demonstrating deletion of the COL4A5/COL4A6 locus and the discovery of microscopic hematuria implied that the patient could transmit both diffuse leiomyomatosis and the Alport syndrome.
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PMID:Diffuse esophageal leiomyomatosis with perirectal involvement mimicking Hirschsprung disease. 1120 31

Alport syndrome (AS) is a hereditary disease characterized by glomerular nephropathy progressing to end-stage renal disease, frequently associated with sensorineural deafness and ocular abnormalities. Rarely, AS coexists with diffuse leiomyomatosis, a benign proliferation of smooth muscle in the gastrointestinal tract, mostly of the oesophagus, but also of the tracheobronchial tree and the female genital tract. Patients with this association have been shown to have contiguous gene deletion involving both COL4A5 and COL4A6 genes. The authors report the case of a 25-year-old man with AS and long-standing dysphagia. The patient received a renal transplant at the age of 23 because of end-stage renal disease. Clinical assessment as well as endoscopic, manometric and radiologic studies suggested the diagnosis of achalasia, which was treated by Heller's myotomy with Dor fundoplication. Postprocedure dysphagia led to an endoscopic ultrasound that showed diffuse thickening of the second layer, resulting in the hypothesis of oesophageal leiomyomatosis. The diagnosis was confirmed through histological study of endoscopic biopsies and genetic analysis.
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PMID:An unusual cause of pseudoachalasia: the Alport syndrome-diffuse leiomyomatosis association. 2376 24

Achalasia is an extremely rare pathology in children. Peroral endoscopic myotomy (POEM) is the gold standard for the surgical treatment of achalasia in adults, but only a limited number of cases of achalasia treatment using POEM in children have been published in the literature. Sometimes, high-resolution manometry signs of achalasia can mimic diffuse esophageal leiomyoma. This case report represents the first known successful performance of POEM on a 15-year-old female with diffuse thickening of the esophagus with signs and symptoms of achalasia and suspicion for Alport syndrome associated with diffuse esophageal leiomyoma.
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PMID:Peroral Endoscopic Myotomy in Diffuse Thickened Esophageal Wall in an Adolescent. 3028 83