Preliminary communication
Recurrent Achalasia in a Child with Williams-Beuren Syndrome
Nina Pereza
Irena Barbarić
Saša Ostojić
Neven Čače
Miljenko Kapović
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.
Keywords
elastin; failure to thrive; genetics; microdeletion
Hrčak ID:
72204
URI
Publication date:
30.9.2011.
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