We reviewed medical records and conducted a nationwide survey to characterize the clinical features and determine the prevalence of biliary tract disease in girls and women with Rett syndrome (RTT).
Sixty-two individuals with RTT and biliary tract disease were identified from the membership of Rett Syndrome Organization and patient files of the principal investigator. Medical records of 46 individuals were reviewed for presenting features, diagnostic tests, and treatment outcomes of biliary tract disease. We designed a questionnaire that probed the frequency of risk factors and treatment outcomes of biliary tract disease in RTT. The questionnaire was completed by 271 parents whose daughters met the clinical criteria for RTT and/or had MECP2 mutations and participated in the Natural History of Rett Syndrome Study.
Presenting symptoms identified by record review included abdominal pain (94%), irritability (88%), weight loss (64%), and vomiting (52%). Biliary dyskinesia, cholecystitis, and cholelithiasis were identified in 90%, 77%, and 70%, respectively, by cholescintigraphy, surgical pathology, and abdominal ultrasound. The prevalence of biliary tract disease was 4.4% (n = 12) in the RTT cohort. Risk factors included older age (P < 0.001) and a positive family history (P < 0.01). Diagnoses included cholecystitis (n = 5), biliary dyskinesia (n = 6), and cholelithiasis (n = 7). Ten individuals underwent surgery; 7 had resolution of symptoms after surgical intervention.
Biliary tract disease is not unique to RTT, but may be under-recognized because of the cognitive impairment of affected individuals. Early diagnostic evaluation and intervention may improve the health and quality of life of individuals affected with RTT and biliary tract disease.
*USDA/ARS Children's Nutrition Research Center
†The Blue Bird Circle Rett Center
‡Department of Pediatrics, Baylor College of Medicine, Houston, TX
§Civitan International Research Center
||Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL
¶Greenwood Genetic Center, Greenwood, SC
#Civitan-Sparks Clinics, University of Alabama at Birmingham, Birmingham, AL
**Vanderbilt University, Nashville, TN.
Address correspondence and reprint requests to Kathleen J. Motil, MD, PhD, Children's Nutrition Research Center, 1100 Bates St, Houston, TX 77030 (e-mail: email@example.com).
Received 19 September, 2018
Accepted 18 December, 2018
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The authors report the following financial disclosures: Drs Motil, Skinner, Percy, Neul, Glaze, and Ms Barrish, Lane, Geerts, Annese, and McNair received research support from NIH (NCRR U54 RR019478, U54 HD06122). Ms Lane receives funds from RS.O in her capacity as a medical/nursing consultant.
Funding for this project was provided by Rett Syndrome Organization (RS.O), the Rett Syndrome Association of Illinois, The Blue Bird Circle, the National Institutes of Health (NICHD U54 HD061222, NCRR U54 RR019478, and the Office of Rare Diseases Research). The views expressed in written materials or publications do not necessarily reflect the official policies of the Department of Health and Human Services, nor does mention by trade names, commercial practices, or organizations imply endorsement by the US Government. This work is also a publication of the USDA/ARS Children's Nutrition Research Center, Baylor College of Medicine, Houston, TX, and has been funded in part with federal funds from the US Department of Agriculture, Agricultural Research Service (Cooperative Agreement Number 58-3092-5-000). The content of this publication does not necessarily reflect the views or policies of the US Department of Agriculture, nor does mention of trade names commercial products, or organizations imply endorsement by this agency.
The authors report no conflicts of interest.