OBJECTIVE: To present a rare case of neurodegenerative disease presented with Cerebellar Ataxia + Macular Degeneration which presently has no definitive treatment.
CASE SUMMARY: A 22- year old male Filipino, ÃƒÆ'Ã†'Ãƒâ€ Ã¢â‚¬â„¢ÃƒÆ'Ã¢â‚¬Â ÃƒÂ¢Ã¢â€šÂ¬Ã¢â€žÂ¢ÃƒÆ'Ã†'Ãƒâ€šÃ‚Â¢ÃƒÆ'Ã‚Â¢ÃƒÂ¢Ã¢â€šÂ¬Ã...Â¡Ãƒâ€šÃ‚Â¬ÃƒÆ'Ã¢â‚¬Â¦Ãƒâ€šÃ‚Â¡ÃƒÆ'Ã†'Ãƒâ€ Ã¢â‚¬â„¢ÃƒÆ'Ã‚Â¢ÃƒÂ¢Ã¢â‚¬Å¡Ã‚Â¬Ãƒ...Ã‚Â¡ÃƒÆ'Ã†'ÃƒÂ¢Ã¢â€šÂ¬Ã...Â¡ÃƒÆ'Ã¢â‚¬Å¡Ãƒâ€šÃ‚Â® handed, store manager from Laguna admitted at our institution for difficulty in ambulation and progressive blurring of vision. On neurologic examination, there was scanning speech, hyperreflexia of DTRs and positive ankle clonus, however no motor or sensory deficits. There was also dysmetria and dysdiadochokinesia and gait ataxia on tandem walk. Ophthalmologic findings included a visual acuity was 207 100 on both eyes with correction. No nystagmus noted. However there was note of bilateral ptosis, bilateral rectus palsy, and bilateral superior and inferior oblique muscle palsy. The EMG-NCV study of the upper and lower limbs including the anal sphincter was normal. The Brainstem Auditory Evoked Potential (BAER) study showed abnormal result showing evidence of failed conduction between the upper and lower pons bilaterally. The Visual Evoked Potential likewise showed abnormal results showing failed conduction along both visual pathways. He was referred to Ophthalmology service and was assessed to have Juvenile Macular dystrophy. He was diagnosed to have Spinocerebellar Ataxia 7 based on the genetic screening. Currently, there is no definitive treatment for this disorder; hence, management is purely supportive.
To present a rare case of neurodegenerative disease presented with Cerebellar Ataxia + Macular Degeneration which presently has no definitive treatment.
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