Esophageal Dysmotility in Gillespie Syndrome

CC This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons. org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Author contributions: BDC: conception and design, acquisition of data, analysis and interpretation of data, drafting the article, and final approval of the version to be published. DTR: acquisition of data, analysis and interpretation of data, drafting the article, and final approval of the version to be published. LCS: acquisition of data, analysis and interpretation of data. FAMH: conception and design , acquisition of data, analysis and interpretation of data, drafting the article, and final approval of the version to be published. Figure. High-resolution manometry showing aperistalsis and a non-detected lower esophageal sphincter due to severe hypotonia. A 16-year-old girl presented with dysphagia and heartburn for 10 years. She was diagnosed with Gillespie syndrome at the age of 1 year. Neurologic findings were represented by bilateral aniridia, strabismus, ataxia and cognitive impairment. Karyotype was normal (46, XX). The upper digestive endoscopy disclosed an esophageal dila-tion and a 5 cm sized Barrett's esophagus confirmed by biopsy. High-resolution manometry showed aperistalsis and a non-detectable lower esophageal sphincter due to severe hypotonia (Figure), corresponding to absent peristalsis on the Chicago classification. 1 Ambulatory 24 hours pH monitoring disclosed a pathological acid reflux (total % time pH < 4: 36%, DeMeester score = 149). Gillespie syndrome is a very rare disease described firstly in 1965. It is defined by the triad of cerebellar ataxia, aniridia and mental deficiency. 2 Associated manifestations have been infrequently described. 3,4 However, esophageal involvement has never been reported. Although the presented association between Gillespie syndrome and esophageal dysmotility may be incidental, there is also a possibility that esophageal dysmotility could be a true sign of Gillespie syndrome. We consider Frizzled 4 gene could be related with both conditions. Frizzled 4 gene is expressed in cer-ebellar Purkinje cells, esophageal skeletal muscle and cochlear inner hair cells and the targeted deletion of this gene in rats exhibited distinct defects such as absence of a skeletal muscle sheath around the lower esophagus associated with progressive esoph-ageal distension and dysfunction.