Microangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutation

Annegret Quade; Joachim Weis; Ingo Kurth; Roman Rolke; Marion Bienert; Simone Schrading; Dorothea Rohrmann; Zafer Yüksel; Martin Häusler

doi:10.1016/j.nmd.2018.08.009

Microangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutation

Neuromuscul Disord. 2018 Dec;28(12):1006-1011. doi: 10.1016/j.nmd.2018.08.009. Epub 2018 Aug 29.

Authors

Annegret Quade¹, Joachim Weis², Ingo Kurth³, Roman Rolke⁴, Marion Bienert⁵, Simone Schrading⁶, Dorothea Rohrmann⁷, Zafer Yüksel⁸, Martin Häusler⁹

Affiliations

¹ Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074 Aachen, Germany. Electronic address: [email protected].
² Institute of Neuropathology, Medical Faculty, RWTH Aachen University, Germany.
³ Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Germany.
⁴ Department of Palliative Medicine, Medical Faculty, RWTH Aachen University, Germany.
⁵ Department of Ophthalmology, Medical Faculty, RWTH Aachen University, Germany.
⁶ Department of Diagnostic and Interventional Radiology, Medical Faculty, RWTH Aachen University, Germany.
⁷ Department of Urology, Medical Faculty, RWTH Aachen University, Germany.
⁸ Centogene AG, Rostock, Germany.
⁹ Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074 Aachen, Germany.

PMID: 30389422
DOI: 10.1016/j.nmd.2018.08.009

Abstract

We report a 9-year-old girl homozygous for a loss-of-function mutation in the PIEZO-2 gene. She showed generalized muscular hypotonia with severe scoliosis, joint deformities, deficient proprioceptive function and selective atrophy and signal alterations of both gastrocnemii on whole body MRI scan. Light microscopic and ultrastructural examination showed few atrophic fibres, abnormal mitochondria, focal myofibrillar disruption and endomysial capillary microangiopathy.

Publication types

Case Reports

MeSH terms

Child
Female
Humans
Ion Channels / genetics*
Magnetic Resonance Imaging
Muscle Hypotonia / diagnostic imaging
Muscle Hypotonia / genetics*
Muscle, Skeletal / diagnostic imaging*
Muscular Atrophy / diagnostic imaging
Muscular Atrophy / genetics*
Mutation*
Peripheral Vascular Diseases / diagnostic imaging
Peripheral Vascular Diseases / genetics*

Substances

Ion Channels
PIEZO2 protein, human