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

Autor:	Janzarik WG; Department of Neuropediatrics and Muscle Disorders, Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Krägeloh-Mann I; Department of Pediatric and Developmental Neurology, University Children's Hospital, Tübingen, Germany., Langer T; Department of Neuropediatrics and Muscle Disorders, Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., van Buiren M; Department of Pediatric Hematology and Oncology, Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Schaefer HE; Department of Pathology, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany., Gerner P; Department of Pediatrics and Adolescent Medicine, Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Jazyk:	angličtina
Zdroj:	Neuropediatrics [Neuropediatrics] 2021 Dec; Vol. 52 (6), pp. 495-498. Date of Electronic Publication: 2021 Jul 12.
DOI:	10.1055/s-0041-1730445
Abstrakt:	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. Competing Interests: Dr. Janzarik reports grants from PCH Familie e.V. (parent support group), outside the submitted work. (Thieme. All rights reserved.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu