Joubert syndrome presenting bilateral peroneal neuropathies: A case report

Area of Science:

• Neurogenetics
• Neurology
• Rare Genetic Disorders

Background:

• Joubert syndrome (JS) is a rare genetic disorder primarily affecting the central nervous system.
• Peripheral nervous system involvement in JS has not been previously reported.
• Diagnostic challenges arise with normal or near-normal brain imaging findings in some JS cases.

Purpose of the Study:

• To report the first case of Joubert syndrome with peripheral nerve abnormalities.
• To highlight the utility of genetic testing in diagnosing JS when neuroimaging is inconclusive.

Main Methods:

• Case study of a 27-year-old male with progressive gait disturbance and oculomotor apraxia.
• Diagnostic workup included brain imaging, DNA sequencing, and nerve conduction studies.
• Whole genome sequencing was performed to identify the causative gene mutation for JS.

Main Results:

• The patient presented with profound bilateral peroneal neuropathies.
• Standard diagnostic methods, including brain imaging and initial DNA sequencing, were inconclusive.
• Whole genome sequencing identified a gene mutation responsible for Joubert syndrome.

Conclusions:

• This case is the first documented instance of peripheral nerve dysfunction in Joubert syndrome.
• Genetic testing is a valuable diagnostic tool for Joubert syndrome, especially when brain imaging is not definitive.
• Further research is warranted to investigate the association between JS and peripheral nervous system abnormalities.