Autonomic Related Gastrointestinal Manifestations of Alternating Hemiplegia of Childhood (P3.6-063)

Objective: Describe and analyze autonomic dysfunction related gastrointestinal manifestations in Alternating Hemiplegia of Childhood (AHC).

Background: Many disorders of the central and autonomic nervous system lead to gastrointestinal symptoms. AHC manifests as recurrent episodes of paralysis, dystonia and autonomic dysfunction. However, gastrointestinal symptoms have not previously been recognized to be a significant problem in AHC.

Design/Methods: We studied a cohort of 15 sequential AHC patients seen during a 6 month period in our AHC clinic and analyzed the data entered in our IRB-approved AHC database. Gastrointestinal symptom severity was scored (no symptoms=1, reported symptoms but no intervention needed=2, medication intervention=3, surgical intervention=4) then correlated with previously established and published measures of AHC CNS disease severity scores: paroxysmal index scores, non-paroxysmal index scores, severity of intellectual disability scores, and Gross Motor Function Classification System (GMFCS) scores.

Results: All 15 patients exhibited gastrointestinal symptoms related to autonomic dysfunction that warranted medical attention. These included: vomiting (10), constipation (10), anorexia resulting in weight loss/failure to thrive(9), dysphagia (9), diarrhea (5), aspiration (4), nausea (4), abdominal distension (3), sialorrhea (3), and abdominal pain (2). Specific diagnoses included GERD (9), swallowing difficulty (9), and gastroparesis (2). Medication management was needed in 13 patients. Surgical interventions included gastrostomy tubes in 7 (due to poor PO intake in 5/7 and recurrent aspirations in 2/7) and Nissen Fundoplication due to GERD (2/7). Additionally, botulinum toxin injections to the pylorus due to gastroparesis (1) and botulinum toxin injections to salivary glands due to excessive sialorrhea (1) were performed. Correlations between gastrointestinal symptom severity and non-paroxysmal index scores, severity of intellectual disability scores, and GMFCS scores were: r=.419, .279, and .347, respectively.

Conclusions: Gastrointestinal problems are common, are occasionally severe, and correlate with disease severity in patients with AHC. Awareness of these problems and anticipatory guidance should help in planning appropriate medical and surgical interventions.

Disclosure: Dr. Pratt has nothing to disclose. Dr. Prange has nothing to disclose. Dr. McLean has nothing to disclose. Dr. Mikati has nothing to disclose.