Flutuating Ptosis as an Initial Presentation of Adult-Onset Leigh Syndrome Eun Hye Oh, Song-Hwa Chae, Jae Wook Cho, Jae-Hwan Choi

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ISSN: 2234-0971

Flutuating Ptosis as an Initial Presentation of Adult-Onset Leigh Syndrome

Eun Hye Oh, Song-Hwa Chae, Jae Wook Cho, Jae-Hwan Choi

Department of Neurology, Pusan National University Yangsan Hospital, Yangsan, Korea

Background: Leigh syndrome, also known as subacute necrotizing encephalomyeolpathy, is a rare neurometabolic disorder caused by genetic mutations in nuclear or mitochondrial DNA. Typically, it begins within the first year of life, and is characterized by psychomotor delay, hypotonia, dysphagia, and respiratory failure. We report a patient with adult-onset Leigh syndrome who presented with bilateral fluctuating ptosis.

Case report: A 20-year-old man presented with bilateral fluctuating ptosis for 1 month. He reported that bilateral ptosis varied throughout the day and was more severe in the evening. Neurological examination showed incomplete bilateral ptosis, which de- teriorated during sustained upward gaze. The ptosis was improved at rest or after sleeping. Other examinations were unremark- able. The laboratory and electrophysiological tests for myasthenia gravis were all negative. T2 weighted and FLAIR MRI of the brain showed ill-defined and symmetric high signal intensities with diffusion restriction at periaqueductal gray matter. Cerebrospinal fluid lactic acid was elevated. Mitochondrial genome test demonstrated a homoplasmic T9176C mutation in the MT-APT6A gene, known as pathogenic mutation of Leigh syndrome. After intravenous steroid treatment, his ptosis was improved.

Conclusion: In our patient, fluctuating ptosis may be ascribed to the dysfunction at centrally-located synapse between supranu- clear pathways in the brainstem and the nuclear complex of the third nerve.

대한안신경의학회지: 제7권 Supplement 1 Clin Neuroophthalmol 7(Suppl 1):S44-44, May 2017