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