Cranial Nerve Involvement With Diplopia as Presenting Feature of CMT1H Caused by Recurring FBLN5 Variant.
Key Points
To report a unique case of FBLN5-related CMT1H that includes cranial nerve involvement leading to diplopia.
Case report of a patient with CMT1H and symptomatic cranial nerve involvement.
Detailed clinical examination and symptom analysis were conducted.
Genetic testing was performed to identify the recurring FBLN5 variant.
The patient exhibited diplopia associated with cranial nerve dysfunction.
Genetic analysis confirmed the presence of a recurring FBLN5 variant.
This case expands the clinical understanding of CMT1H phenotypes.
Abstract
This is the first reported case of FBLN5-related CMT1H with symptomatic cranial nerve involvement, expanding the known phenotypic spectrum of the disease.