Spasmodic Abdominal Pain and Other Gastrointestinal Symptoms in Pontocerebellar Hypoplasia Type 2

Abstract

Introduction Pontocerebellar hypoplasia type 2 (PCH2) is a rare neurodevelopmental disease with a high disease burden. Besides neurological symptoms, somatic symptoms, such as gastroesophageal reflux (GERD) and failure to thrive, are major contributors to this burden. Methods We report three patients with genetically confirmed PCH2A and significant gastrointestinal (GI) symptoms. Results Apart from impaired swallowing and GERD, which are frequently reported in patients with PCH2, all three patients suffered from episodes of spasmodic abdominal pain and restlessness. In one severely affected patient, lack of intestinal alkaline phosphatase (IAP) is demonstrated. Conclusion GI symptoms are common in PCH2. We draw attention to episodes of spasmodic abdominal pain seriously, aggravating the condition of the patients, especially their movement disorder, and discuss the role of IAP.

Growth charts for pontocerebellar hypoplasia type 2A

“…PCH2A is a rare neurodevelopmental disorder accompanied by severe gastrointestinal symptoms, dysphagia and feeding problems (30, 31). Patients with PCH2A often fail to thrive, despite PEG-placement in many of the affected patients (5).…”

“…To calculate PCH2A-specific growth charts, we included retrospective data of a predominantly German cohort of 65 patients with genetically proven PCH2A age 0-18 years, and applied data of a German reference population (KiGGS) as basis for comparison (14,15). PCH2A is a rare neurodevelopmental disorder accompanied by severe gastrointestinal symptoms, dysphagia and feeding problems (30,31). Patients with PCH2A often fail to thrive, despite PEGplacement in many of the affected patients (5).…”