(Kiosk 6) More Than the Eye Can See: leber Hereditary Optic Neuropathy and Multiple Sclerosis Overlap (A Case Report)

Case Diagnosis: Leber Hereditary Optic Neuropathy (LHON) Multiple Sclerosis (MS) Overlap

Case Description or Program Description: An 18-year-old male with a history of juvenile myoclonic epilepsy was initially diagnosed with MS at age 16 due to multiple episodes of blurry vision and multifocal weakness with supratentorial lesions on MRI, and was treated with IVIG and IV steroids without lasting improvement. Workup revealed a pathologic mtDNA T14484C mutation of the MT-ND6 gene, suggestive of LHON. This combined with his constellation of symptoms supported a unifying diagnosis of LHON-MS. Persistent flares resulted in more profound left hemiparesis, blurry vision, and ataxia, requiring an inpatient rehabilitation admission.

Setting: Acute inpatient rehabilitation

Assessment/Results: Despite being a nonfunctional ambulator requiring 2-person moderate-assist, he was successfully discharged home ambulating 300-feet with supervision and rolling walker, due to careful consideration of his rare overlap syndrome impacting standard approaches for MS rehab. Direct referrals were made to epilepsy, neuro-ophthalmology and child neurology services for expedited follow-up given the aggressiveness of this condition.

Discussion (relevance): The atypical nature of this rare overlap syndrome complicated this patient’s management. LHON-MS presents with unilateral vision impairment and variable MS-like flares, making it a clinical MS mimic. It typically presents in females with an mtDNA A11778G mutation. It is highly aggressive, and flares are frequent despite treatment. Since mitochondrial disorders impact a person’s ability to undergo anabolic processes due to impaired ATP and energy production capacities, any physiological stressor, including a strenuous rehabilitation program, has the potential to worsen his condition without careful monitoring.

Conclusions: The unique characteristics of both LHON and MS need to be considered when caring for patients with this overlap syndrome in the rehabilitation setting in order to optimize their improvement. In this patient, therapies were adapted to allow safe exercise to decrease risk of symptom exacerbation for successful completion of a rehabilitation program with return home to his family.