Gastrointestinal Symptoms in Patients with Pontocerebellar Hypoplasia Type 2A

Background: Pontocerebellar hypoplasia type 2A (PCH2A) is a very rare autosomal recessive neuropediatric condition with a high disease burden. Affected patients typically show severe developmental retardation, dyskinetic movement disorder and epileptic seizures. Besides, patients with PCH2A suffer from severe gastrointestinal symptoms.

Methods: As part of an ongoing survey among parents in which we study the natural history of patients with PCH2A, we collect detailed data about the occurrence of gastrointestinal symptoms, feeding, and burden of disease. Until now, 43 patients with genetically diagnosed PCH2A are included in the study. Data regarding gastrointestinal symptoms are analyzed using descriptive statistics.

Results: All parents surveyed so far report the occurrence of a wide variety of gastrointestinal symptoms including dysphagia, reflux, vomiting, spasmodic abdominal pain, meteorism, and obstipation. In many cases, those symptoms influence the quality of life of the patients and their families considerably. Gastrointestinal symptoms worsen the movement disorder, which can lead to dystonic crises. Proton pump inhibitors (PPI) contribute to a considerable improvement in patients with PCH2A. In most cases, PPIs are administered fractionated and at high doses. Besides pharmacological treatment, operative interventions like percutaneous endoscopic gastrostomy (PEG), percutaneous endoscopic jejunostomy (PEJ), and fundoplication are carried out frequently in patients with PCH2A.

Conclusion: Gastrointestinal symptoms severely affect the daily life and well-being of patients with PCH2A and their families. PCH2A should be regarded as a systemic disease, which requires an interdisciplinary therapeutic setting.

Publication History

Article published online:
28 October 2021