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Neuropediatrics 2021; 52(06): 495-498
DOI: 10.1055/s-0041-1730445
Short Communication

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

Wibke G. Janzarik 
1   Department of Neuropediatrics and Muscle Disorders, Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany
,
Ingeborg Krägeloh-Mann
2   Department of Pediatric and Developmental Neurology, University Children's Hospital, Tübingen, Germany
,
Thorsten Langer
1   Department of Neuropediatrics and Muscle Disorders, Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany
,
Miriam van Buiren
3   Department of Pediatric Hematology and Oncology, Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany
,
Hans E. Schaefer
4   Department of Pathology, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany
,
Patrick Gerner
5   Department of Pediatrics and Adolescent Medicine, Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany
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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.

Keywords

pontocerebellar hypoplasia - PCH2 - TSEN54 - GERD - intestinal alkaline phosphatase


Publication History

Received: 13 November 2020

Accepted: 01 April 2021

Article published online:
12 July 2021

© 2021. Thieme. All rights reserved.

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