title: Recurrent achalasia in a child with Williams-Beuren syndrome.
abstract: Williams-Beuren syndrome is a multysistem genetic disorder caused by the 1.6Mb hemizygous deletion involving the elastin gene in the region q11.23 of chromosome 7. The phenotype of Williams-Beuren syndrome is extremelly variable but the most common findings include cardiovascular disease, distinctive facies, mental retardation, a specific congitive profile, endocrine abnormalities, growth retardation and connective tissue abnormalities. Although gastrointestinal difficulties are one of the most constant and prominent finding of the syndrome, including gastro-esophageal reflux (GER), poor suckling, vomiting, constipation, prolonged colic, rectal prolapse, inguinal, umbilical and hiatal hernia, there have been no reports of achalasia in association with Williams-Beuren syndrome in the literature. We present the case of a boy with Williams-Beuren syndrome, achalasia and recurrent postoperative stenosis of the cardia. After Heller myotomy, the boy developed severe restenosis of the cardia with abundant adhesions which repeated after every treatment, five times in periods shorter than one month. Eventually, he developed GER, errosive gastritis and hiatal hernia which led to severe malnutrition and failure to thrive. Although the genetic defect causing Williams-Beuren syndrome might not be the direct cause of achalasia we suggest that the frequent development of severe restenosis of cardia due to tight adhesions could be the consequence of elastin gene haploinsufficiency and altered structure and function of elastic fibers in esophageal connective tissue. This case highlights the importance of early diagnosis of esophageal motor disorders in childhood which should be included in the differential diagnosis when a child with Williams-Beuren syndrome presents with dysphagia and/or regurgitation.
authors: University of Rijeka, School of Medicine, Department of Biology and Medical Genetics, Rijeka, Croatia. nina.pereza@xnet.hr
authors: Nina
authors: N
authors: Pereza
authors: Irena
authors: I
authors: Barbarić
authors: Sasa
authors: S
authors: Ostojić
authors: Neven
authors: N
authors: Cace
authors: Miljenko
authors: M
authors: Kapović
mesh_terms: D003937:Diagnosis, Differential; D004931:Esophageal Achalasia / Q000209:etiology*; D006801:Humans; D007223:Infant; D008297:Male; D012008:Recurrence; D018980:Williams Syndrome / Q000150:complications* / Q000175:diagnosis