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.

Keywords

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

Publikationsverlauf

Eingereicht: 13. November 2020

Angenommen: 01. April 2021

Artikel online veröffentlicht:
12. Juli 2021

• References

• 1 Sánchez-Albisua I, Frölich S, Barth PG, Steinlin M, Krägeloh-Mann I. Natural course of pontocerebellar hypoplasia type 2A. Orphanet J Rare Dis 2014; 9: 70
• 2 Namavar Y, Barth PG, Kasher PR. et al; PCH Consortium. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain 2011; 134 (Pt 1): 143-156
• 3 Lukas M, Drastich P, Konecny M. et al. Exogenous alkaline phosphatase for the treatment of patients with moderate to severe ulcerative colitis. Inflamm Bowel Dis 2010; 16 (07) 1180-1186
• 4 van Dijk T, Baas F. TSEN54 pontocerebellar hypoplasia. In: Adam MP, Ardinger HH, Pagon RA. et al., eds. GeneReviews. Seattle, WA: University of Washington; 1993
• 5 Claßen M, Schmidt-Choudhury A. Ernährungsprobleme und Unterernährung bei schwer neurologisch beeinträchtigten Kindern und Jugendlichen. Monatsschr Kinderheilkd 2019; 167 (08) 675-685
• 6 Bilski J, Mazur-Bialy A, Wojcik D. et al. The role of intestinal alkaline phosphatase in inflammatory disorders of gastrointestinal tract. Mediators Inflamm 2017; 2017: 9074601
• 7 Tighe M, Afzal NA, Bevan A, Hayen A, Munro A, Beattie RM. Pharmacological treatment of children with gastro-oesophageal reflux. Cochrane Database Syst Rev 2014; (11) CD008550
• 8 Steinlin M, Klein A, Haas-Lude K. et al. Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings. Eur J Paediatr Neurol 2007; 11 (03) 146-152
• 9 Budde BS, Namavar Y, Barth PG. et al. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet 2008; 40 (09) 1113-1118