Progressive short stature in Pearson syndrome and the impact of organ failure

Yoshimi A, Cario H, Timmermann K, Kontny U, Lobitz S, Odenthal HS, Schmid I, Seitz B, Höll T, Lücke T, Borkhardt A, Strauß G, Hohnecker A, Metzler M, Karall D, Noellke P, Niemeyer CM, Grünert SC (2026)

Publication Type: Journal article

Publication year: 2026

Journal

Molecular Genetics and Metabolism Elsevier

Book Volume: 148

Article Number: 110160

Journal Issue: 3

DOI: 10.1016/j.ymgme.2026.110160

Abstract

Background: Pearson syndrome (PS) is a rare, unique primary mitochondrial disorder characterized by single large-scale mitochondrial DNA deletions, bone marrow failure, lactic acidosis, and progressive multi-organ complications. Methods: We retrospectively evaluated anthropometric data from 25 patients with PS. Results: The median height, weight, and body mass index (BMI) standard deviation scores (SDS) at the last measurement were − 1.95 (range: −7.32 to 1.09), −1.70 (range: −12.26 to 0.11), and − 1.52 (range: −5.01 to 2.19), respectively; 50%, 40%, and 37.5% of patients, respectively, had values below −2 SDS. Longitudinal data from 18 patients showed that height and weight SDS declined progressively with age in most patients, whereas BMI SDS fluctuated without a clear age-related trend. Initiation of tube feeding improved weight and BMI SDS in some patients, while height SDS continued to decline without catch-up growth. Patients with organ failure exhibited an earlier decline in height SDS than those without organ failure. Conclusions: Patients with PS are generally short and underweight, and their short stature worsens over time. The presence of organ failure further exacerbates growth impairment.

Authors with CRIS profile

Markus Metzler Department of Paediatrics and Adolescent Medicine

Involved external institutions

Universitätsklinikum Freiburg DE Germany (DE) Universitätsklinikum Ulm DE Germany (DE) Klinikum Stuttgart DE Germany (DE) Rheinisch-Westfälische Technische Hochschule (RWTH) Aachen DE Germany (DE) Gemeinschaftsklinikum Mittelrhein DE Germany (DE) Kinderkrankenhaus Amsterdamer Straße DE Germany (DE) Klinikum der Universität München (LMU Klinikum) DE Germany (DE) Klinikum Schwabing DE Germany (DE) Sana Kliniken AG DE Germany (DE) Ruhr-Universität Bochum (RUB) DE Germany (DE) Heinrich-Heine-Universität Düsseldorf DE Germany (DE) HELIOS Kliniken DE Germany (DE) Medizinische Universität Innsbruck AT Austria (AT)

How to cite

APA:

Yoshimi, A., Cario, H., Timmermann, K., Kontny, U., Lobitz, S., Odenthal, H.S.,... Grünert, S.C. (2026). Progressive short stature in Pearson syndrome and the impact of organ failure. Molecular Genetics and Metabolism, 148(3). https://doi.org/10.1016/j.ymgme.2026.110160

MLA:

Yoshimi, Ayami, et al. "Progressive short stature in Pearson syndrome and the impact of organ failure." Molecular Genetics and Metabolism 148.3 (2026).

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