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P.053 A clinical mystery finally revealed

Published online by Cambridge University Press:  05 January 2022

Z Aljohani
Affiliation:
(London)*
S Venance
Affiliation:
(London)
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Abstract

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Background: We report 2 brothers sharing FHL1 identified mutation. They presented in childhood with overlapping clinical features characterized by early onset stiffness and increased muscle definition with cardiac involvement. After 30 years of neurological followup, the diagnosis is finally revealed. Methods: At early ages, both had increased definition of upper trunk musculature. The older brother had hypophonic voice with raspy character, which is to our knowledge, not reported with this mutation before. He required a pacemaker for arrhythmias, while the younger developed congestive heart failure. Results: Their initial investigations failed to unveil a diagnosis, including a negative next generation sequencing (NGS) panel for AR LGMD. An expanded NGS sent on the older brother revealed he is hemizygous for 1770 bp deletion within FHL 1 gene, this deletion includes exon 7to 8, and confirmed on the other. Conclusions: First reported in 2008, FHL1 mutations result in phenotypically distinct neuromuscular disorders: X-linked myopathy with Postural Muscle Atrophy and generalized hypertrophy, X-linked dominant scapuloperoneal Myopathy, and Reducing Body Myopathy. Subsequently other phenotypes have been reported including Emery-Dreifuss muscular dystrophy and hypertrophic cardiomyopathy. Our patients present with a phenotype that had been reported with FHL1 mutation, highlighting the possible recognition of this presentation in aiding a diagnostic approach.

Type
Poster Presentations
Copyright
© The Author(s), 2021. Published by Cambridge University Press on behalf of Canadian Neurological Sciences Federation