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

Wibke G Janzarik1, Ingeborg Krägeloh-Mann2, Thorsten Langer1

  • 1Department of Neuropediatrics and Muscle Disorders, Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Neuropediatrics
|July 13, 2021
PubMed

Insights

Pontocerebellar hypoplasia type 2 (PCH2) patients often experience severe gastrointestinal issues. This study highlights spasmodic abdominal pain and discusses the potential role of intestinal alkaline phosphatase (IAP) in PCH2 symptom severity.

Area of Science:

  • Neuroscience
  • Genetics
  • Gastroenterology

Background:

  • Pontocerebellar hypoplasia type 2 (PCH2) is a rare neurodevelopmental disorder.
  • Neurological symptoms are primary, but somatic symptoms like GERD and failure to thrive significantly increase disease burden.

Purpose of the Study:

  • To report on gastrointestinal (GI) symptoms in patients with genetically confirmed PCH2A.
  • To highlight spasmodic abdominal pain as a significant GI symptom in PCH2.
  • To explore the potential role of intestinal alkaline phosphatase (IAP) in PCH2.

Main Methods:

  • Case report of three patients with genetically confirmed PCH2A.
  • Clinical assessment of neurological and GI symptoms.
  • Biochemical analysis, including IAP levels in one patient.

Main Results:

  • All three patients presented with significant GI symptoms, including impaired swallowing and GERD.
  • Spasmodic abdominal pain and restlessness were observed in all patients.
  • One severely affected patient showed a lack of IAP.

Conclusions:

  • GI symptoms are prevalent in PCH2 and contribute significantly to the disease burden.
  • Spasmodic abdominal pain exacerbates the condition, particularly the movement disorder.
  • Further investigation into the role of IAP in PCH2 is warranted.
Abstract

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