Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease

Magdalena Mroczek; Dimitrios Zafeiriou; Juliana Gurgel-Gianetti; Beatriz Vilela Morais de Azevedo; Andreas Roos; Enrika Bartels; Nicolai Kohlschmidt; Rahul Phadke; Lucy Feng; Jennifer Duff; Ana Töpf; Volker Straub

doi:10.1055/s-0040-1715625

Neuropediatrics, Inhaltsverzeichnis

Neuropediatrics 2021; 52(05): 390-393
DOI: 10.1055/s-0040-1715625

Short Communication

Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease

Magdalena Mroczek

¹John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals National Health Service Foundation Trust, Newcastle upon Tyne, United Kingdom

,

Dimitrios Zafeiriou

²Department of Paediatrics, Aristotle University of Thessaloniki, “Hippokratio” General Hospital, Thessaloniki, Greece

,

Juliana Gurgel-Gianetti

³Department of Pediatrics, Faculty of Medicine, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil

,

Beatriz Vilela Morais de Azevedo

³Department of Pediatrics, Faculty of Medicine, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil

,

Andreas Roos

⁴Department of Pediatric Neurology, University of Duisburg-Essen, University Hospital Essen, Faculty of Medicine, Essen, Germany

,

Enrika Bartels

⁵Institute of Clinical Genetics and Tumor Genetics, Bonn, Germany

,

Nicolai Kohlschmidt

⁵Institute of Clinical Genetics and Tumor Genetics, Bonn, Germany

,

Rahul Phadke

⁶Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, United Kingdom

,

Lucy Feng

⁶Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, United Kingdom

,

Jennifer Duff

¹John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals National Health Service Foundation Trust, Newcastle upon Tyne, United Kingdom

,

Ana Töpf

¹John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals National Health Service Foundation Trust, Newcastle upon Tyne, United Kingdom

,

Volker Straub

¹John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals National Health Service Foundation Trust, Newcastle upon Tyne, United Kingdom

› Institutsangaben

Abstract

Pur-α protein (PURA) syndrome manifests in early childhood with core features such as neurodevelopmental and speech delay, feeding difficulties, epilepsy, and hypotonia at birth. We identified three cases with PURA syndrome in a cohort of patients with unexplained muscular weakness, presenting with a predominantly neuromuscular and ataxic phenotype. We further characterize the clinical presentation of PURA syndrome including myopathic facies and muscular weakness as the main clinical symptoms in combination with elevated serum creatine kinase levels. Furthermore, we report two novel variants located in the conservative domains PUR-I and PUR-II. For the first time, we present the muscle biopsies of PURA syndrome patients, showing myopathic changes, fiber size variability, and fast fiber atrophy as the key features. PURA syndrome should be taken into consideration as a differential diagnosis in pediatric patients with unexplained muscle weakness.

Keywords

PURA syndrome - fast fiber atrophy - neurodevelopmental delay

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Referenzen

References
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