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)

A case of achalasia coexistent with sigmoid megacolon in a 38-year-old man with known epilepsy is described. The patient was referred to the Ryukyu University Hospital with a 4-year history of dysphagia and heartburn and a 1-year history of abnormal bowel movement. On admission, upper gastrointestinal (GI) series demonstrated a dilated, tortuous thoracic esophagus with a flask-type configuration. Barium enema studies showed a dilated sigmoid colon from the rectosigmoid junction to the descending colon. Myotomy (modified Jekler-Lhotka's procedure) for achalasia and simple sigmoidectomy for sigmoid megacolon were carried out. The biopsied wall of the narrowed esophageal segment at operation showed decreased numbers of ganglion cells in Auerbach's plexus and atrophy of the muscle fibers. The resected dilated sigmoid colon revealed degeneration and markedly decreased numbers of ganglion cells in Auerbach's and Meissner's plexuses. The patient's postoperative course was uneventful and he has been doing well since surgery. The present case is very interesting and to our knowledge, such a case is rare in the literature. We believe that the abnormalities of the ganglion cells may be due to the same etiologic factor as the sigmoid megacolon. The association of the two pathologic processes is discussed, together with a brief review of the literature.
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PMID:A rare case of achalasia coexistent with sigmoid megacolon and associated with epilepsy. 800 May 13

Allgrove syndrome is a rare autosomal recessive disease with achalasia, alacrima, adrenocortical insufficiency, autonomic neuropathy and other neurological disturbances. A case of two brothers with Addison s disease from early childhood is presented. The younger brother with Addison disease died at the age of 5. The older brother was treated for adrenocortical insufficiency from the age 3, and then treated for achalasia and epilepsy from the age of 5. The patient is currently 26 years old and suffers from achalasia and adrenocortical insufficiency. He also suffers from alacrima, autonomic neuropathy, epilepsy and other damages of the central and peripheral nervous system. The clinical picture is typical for Allgrove or 4A syndrome, and the diagnosis was confirmed by means of molecular analysis of a new AAAS gene mutation.
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PMID:Familial occurrence of adrenocortical insufficiency in two brothers with Allgrove syndrome. A case report of 4A (Allgrove) syndrome with epilepsy and a new AAAS gene mutation. 1626 11

POLG gene encodes the catalytic subunit of DNA polymerase gamma, essential for mitochondrial DNA (mtDNA) replication and repair. Mutations in POLG have been linked to a spectrum of clinical phenotypes, resulting in autosomal recessive or dominant mitochondrial diseases. These mutations have been associated with heterogeneous phenotypes, presenting with varying severity and at different ages of onset, ranging from the neonatal period to late adult life. We screened 13 patients for POLG mutations. All patients underwent a complete neurological examination, and in most of cases, muscle biopsy was performed. We detected 15 different variations in 13 unrelated Italian patients. Two mutations were novel and mapped in the pol domain (p.Thr989dup and p.Ala847Thr) of the enzyme. We also report new cases carrying controversial variations previously described as incompletely penetrant or a variant of unknown significance. Our study increases the range of clinical presentations associated with mutations in POLG gene, underlining some peculiar clinical features, such as PEO associated with corneal edema, and epilepsy, severe neuropathy with achalasia. The addition of two new substitutions, including the second report of an in-frame duplication, to the growing list of defects increases the value of POLG genetic diagnosis in a range of neurological presentations.
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PMID:Novel POLG mutations and variable clinical phenotypes in 13 Italian patients. 2813 Jun 5