Journal of Pediatric Neurology 2024; 22(01): 050-055
DOI: 10.1055/s-0042-1749671
Case Report

Severe Congenital Myopathy and Neuropathy with Congenital Cataracts due to GFER Variant: A Neuropathological Study

Silvia Beatriz Sanchez-Marco
1   Department of Paediatric Neurology, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom
,
Germaine Pierre
2   Department of Paediatric Metabolic Medicine, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom
,
Peta Sharples
1   Department of Paediatric Neurology, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom
,
Seth Love
3   Department of Neuropathology, North Bristol Hospital NHS Foundation Trust, Bristol, United Kingdom
,
Kathryn Urankar
3   Department of Neuropathology, North Bristol Hospital NHS Foundation Trust, Bristol, United Kingdom
,
Tom Hilliard
4   Department of Paediatric Respiratory Medicine, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom
,
Peter Lunt
5   South West Genomic Laboratory Hub, Bristol Genetics Laboratory, Southmead Hospital, Bristol, United Kingdom
,
Amanda Churchill
6   Department of Ophthalmology, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom
,
Riyaad Aungraheeta
5   South West Genomic Laboratory Hub, Bristol Genetics Laboratory, Southmead Hospital, Bristol, United Kingdom
,
Anthony Dallosso
5   South West Genomic Laboratory Hub, Bristol Genetics Laboratory, Southmead Hospital, Bristol, United Kingdom
,
Julie Evans
5   South West Genomic Laboratory Hub, Bristol Genetics Laboratory, Southmead Hospital, Bristol, United Kingdom
,
Maggie Williams
5   South West Genomic Laboratory Hub, Bristol Genetics Laboratory, Southmead Hospital, Bristol, United Kingdom
,
Anirban Majumdar
1   Department of Paediatric Neurology, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom
› Institutsangaben

Funding Silvia Beatriz Sanchez-Marco was supported by a fellowship funded by the Alicia Koplowitz Foundation, Madrid, Spain.
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Abstract

We describe the clinical, muscle and nerve biopsy, and genetic findings in a 10-year-old girl with a profound and rapid global regression. She presented during neonatal period with hypotonia, followed by weakness in the facial, bulbar, respiratory, and neck flexor muscles. She developed bilateral cataracts at 4 months of age and started to regress. Quadriceps muscle biopsy revealed extensive fiber atrophy but sparing of some, predominantly type 1, fibers. Sural nerve biopsy showed depletion of myelinated and unmyelinated fibers; most remaining myelinated fibers were of small caliber. Neuroimaging revealed global brain atrophy. Although the investigations indicated a multisystem disorder, extensive genetic and metabolic investigations were negative. She was tracheostomy- and ventilator-dependent for most of her life. The child died at 10 years of age. Further deoxyribonucleic acid analysis undertaken via whole genome sequencing revealed a novel pathogenic GFER sequence variant consistent with the patient's clinical presentation.

Ethical Publication Statement

We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.


Supplementary Material



Publikationsverlauf

Eingereicht: 01. Februar 2022

Angenommen: 20. April 2022

Artikel online veröffentlicht:
20. Juni 2022

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