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Abstract Details

A Case of Concurrent ADOA and HNPP: A Clinical Reminder of Hickam’s Dictum
Neuro-ophthalmology/Neuro-otology
P10 - Poster Session 10 (8:00 AM-9:00 AM)
17-007
To present a case of autosomal dominant optic atrophy (ADOA) in a patient with co-occurring hereditary neuropathy with liability to pressure palsy (HNPP).
ADOA is the most common hereditary optic neuropathy and is caused by mutations in the Optic Atrophy-1 (OPA1) gene. HNPP is a hereditary neuropathy caused by deletions in the peripheral myelin protein-22 (PMP22) gene.
N/A

A 46-year-old male presented with acute onset of left foot drop. History was significant for prior bilateral carpal tunnel syndrome and cubital tunnel syndrome. EMG was completed and suggestive of left peroneal neuropathy and an underlying diffuse sensorimotor polyneuropathy. Genetic testing revealed a deletion on chromosome 17p12, including the PMP22 gene, consistent with HNPP.

 

2 years later he presented with 4 years of slowly progressive bilateral vision loss. Neuro-ophthalmologic exam revealed dyschromatopsia and bilateral optic disc pallor. Optical coherence tomography showed severe retinal nerve fiber layer thinning of bilateral optic nerves (61 µm OD, 57 µm OS). MRI orbits confirmed symmetric optic nerve atrophy without compressive a compressive lesion, abnormal signal, or enhancement. Referral was placed to genetics, with exome sequencing showing a point mutation in the OPA1 gene (983 A>G), consistent with ADOA.
ADOA and HNPP are among the most common heritable causes of optic atrophy and peripheral neuropathy, respectively. Neither condition has any significant phenotypic overlap; however, several conditions do exist where a single genetic mutation results in a phenotype of both optic atrophy and peripheral neuropathy (CMT2A, Familial Dysautonomia, etc.). To our knowledge, this is the first case reported of a patient presenting with peripheral neuropathy and bilateral optic atrophy due to both PMP22 and OPA1 genetic mutations, rather than possessing a single mutation known to cause both conditions. This case illustrates the counterargument to Occam’s razor, Hickam’s dictum.
Authors/Disclosures
Carlos R. Santos
PRESENTER 		An immediate family member of Mr. Santos has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Cochrane. An immediate family member of Mr. Santos has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Giarmarco, Mullins & Horton PC. The institution of an immediate family member of Mr. Santos has received research support from Saint Mary's Foundation. An immediate family member of Mr. Santos has received research support from 好色先生.
Jason T. Schick, DO (Trinity Health Grand Rapids) Dr. Schick has nothing to disclose.
Aileen Antonio, MD, FAAN (Trinity Health Saint Mary's Hauenstein Neurosciences) Dr. Antonio has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Cochrane. An immediate family member of Dr. Antonio has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Giamarco, Mullins & Horton PC. The institution of Dr. Antonio has received research support from Saint Mary's Foundation. Dr. Antonio has received research support from 好色先生.
Paul T. Twydell, DO, FAAN (Corewell Health) Dr. Twydell has received publishing royalties from a publication relating to health care.