Introduction: Pontocerebellar hypoplasia type 2A (PCH2A) is a rare, autosomal recessive disease, caused by a homozygous pathogenic variant in the gene TSEN54 (c.919G>A, p.A307S). Apart from the characteristic pontocerebellar hypoplasia in MRI, PCH2A is clinically characterized by a dyskinetic movement disorder, severe neurodevelopment delay, progressive microcephaly, and, less well recognized, failure to thrive. Additional symptoms such as seizures, gastrointestinal or respiratory problems are common. The aim of this study was to document growth data of PCH2A patients, calculate growth charts for height, weight, body mass index (BMI) and head circumference (hc), and compare these to German reference charts. Patients and methods: In total, data of 65 patients with genetically confirmed PCH2A were included in the study. Growth data were collected retrospectively from medical reports and a parent questionnaire. Disease-specific growth charts were prepared using gamlss package in R. Sex-disaggregated growth charts for PCH2A were compared to German reference data from the KiGGs study. Results: Height and weight of patients with PCH2A were within the normal range at birth. Mean weight was significantly lower from the age of 3 months onwards, and mean height at the age of 6 months in patients with PCH2A, both, females and males. Mean BMI was statistically lower in patients at the age 4 months. Compared to reference values, mean head circumference of patients with PCH2A was significantly below average at birth, and all patients showed severe and progressive microcephaly in the further course. Conclusion: In line with previous reports, patients with PCH2A typically exhibit progressive microcephaly, and frequently fail to thrive during infancy. Disease-specific growth charts of pediatric patients with PCH2A are provided as a helpful tool to monitor height, weight, BMI and head circumference of affected children.

Mixed competing interests: All authors have completed the ICMJE uniform disclosure form at www.icmje.org/coi_disclosure.pdf and declare: Antonia Herrmann and Saskia Froelich have received no support from any organisation for the submitted work; Simone Mayer has received research grants and honorariums from Chan Zuckerberg Initiative, Eva Luise and Horst Koehler Foundation, German Research Foundation and PCH-Familie e.V.. Wibke G. Janzarik has received research grants and honorariums from Chan Zuckerberg Initiative and PCH Familie e.V.. Anna-Lena Klauser and Julia Matilainen have received research grants and honorariums from Chan Zuckerberg Initiative. Ingeborg Kraegeloh-Mann has received research grants and honorariums from PCH-Familie e.V. Alice Kuhn has received research grants and honorariums from Chan Zuckerberg Initiative and Hermann O. Nuss und Maria A. Nuss-Stiftung. Samuel Groeschel has received research grants and honorariums from Chan Zuckerberg Initiative and institutional research grants (CZI, DFG, Orchard, Takeda). Samuel Groeschel does consultancy for Sanofi, Clario, Takeda, Orchard (not connected to this manuscript, no personal payments) and advisory board meetings for Sanofi, Orchard, Takeda (no personal payments). Maren Hackenberg has received research grants and honorariums from Deutsche Forschungsgemeinschaft (DFG, German Research Foundation, Project-ID 322977937 -- GRK 2344 and Project-ID 499552394 -- SFB 1597).

Mixed competing interests: All authors have completed the ICMJE uniform disclosure form at www.icmje.org/coi_disclosure.pdf and declare: Antonia Herrmann and Saskia Froelich have received no support from any organisation for the submitted work; Simone Mayer has received research grants and honorariums from Chan Zuckerberg Initiative, Eva Luise and Horst Koehler Foundation, German Research Foundation and PCH-Familie e.V.. Wibke G. Janzarik has received research grants and honorariums from Chan Zuckerberg Initiative and PCH Familie e.V.. Anna-Lena Klauser and Julia Matilainen have received research grants and honorariums from Chan Zuckerberg Initiative. Ingeborg Kraegeloh-Mann has received research grants and honorariums from PCH-Familie e.V. Alice Kuhn has received research grants and honorariums from Chan Zuckerberg Initiative and Hermann O. Nuss und Maria A. Nuss-Stiftung. Samuel Groeschel has received research grants and honorariums from Chan Zuckerberg Initiative and institutional research grants (CZI, DFG, Orchard, Takeda). Maren Hackenberg has received research grants and honorariums from Deutsche Forschungsgemeinschaft (DFG, German Research Foundation, Project-ID 322977937 -- GRK 2344 and Project-ID 499552394 -- SFB 1597).

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