Recent Developments
In the past year, an unusual frequency of gallbladder disease was recognized in girls or women with Rett syndrome (Kathy Hunter, International Rett Syndrome Association, personal communication, 2004). We have known for many years that constipation and swallowing dysfunction, with or without gastroesophageal reflux, are very common in Rett syndrome. These symptoms can be associated with persistent crying or apparent abdominal pain. However, we now realize that gallbladder dysfunction can account for gastrointestinal complaints in Rett syndrome. Through the International Rett Syndrome Association, 34 girls or women with evidence of gallbladder dysfunction were identified. The ages of 29 of the 34 individuals are known, ranging from 3 to 43 years. The age distribution of these individuals is depicted in Figure 1. Remarkably, nearly 45% (13/29) were < 20 years of age. In addition, as shown in Table 5 , two thirds had gallstones and nearly 90% required a cholecystectomy. Two expired, one as a result of the gallbladder dysfunction and one postoperatively. These preliminary data indicate that female patients with recurrent pain that appears to be abdominal in origin and who lack evidence of gastroesophageal reflux or severe constipation should have a comprehensive assessment of gallbladder function.
Evidence of gallbladder disease in female individuals with Rett syndrome.
After the identification of mutations in MECP2, we conducted a treatment trial at Baylor College of Medicine and the University of Alabama at Birmingham involving folate and betaine. Although data from this trial are still being analyzed, we can say that use of folate and betaine (trimethylglycine) in pharmacologic doses led to no objective improvement. No adverse affects were noted. However, the parents of participants who were receiving the active ingredients reported subjective improvement in mood and attention. Through the two centers, we also conducted an assessment of cerebrospinal fluid folate levels in a large cohort of individuals with Rett syndrome. We studied cerebrospinal fluid folate in 70 female subjects between the ages of 2 and 22 years meeting the criteria for Rett syndrome. Except for one individual who appears to have a systemic problem in folate transport, all cerebrospinal fluid folate levels were within the normal range. These findings do not support the previous report by Ramaekers and colleagues describing four female subjects with Rett syndrome.[16] That study revealed significantly reduced levels of cerebrospinal fluid folate. Replacement therapy with folinic acid produced a response similar to that noted by us in the folate-betaine treatment trial.
J Child Neurol. 2005;20(9):718-721. © 2005 BC Decker, Inc.
Cite this: Rett Syndrome: Model of Neurodevelopmental Disorders - Medscape - Sep 01, 2005.
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