Neuro-Ophthalmology & Neuro-Otology
Sensorineural hearing loss
May. 20, 2024
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Cerebrotendinous xanthomatosis in a 66-year-old Indian man
The video demonstrates spastic speech, mild spooning of fingers, mild ataxic gait, and postural instability. Tendon xanthomas can be seen in bilateral Achilles tendons. The video was taken after written informed consent for video recording and publication. (Source: Katragadda P, Holla VV, Kamble N, Saini J, Yadav R, Pal PK. Clinical and imaging profile of patients with cerebrotendinous xanthomatosis - a video case series from India. Tremor Other Hyperkinet Mov [N Y] 2024;14:10. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)
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- Ataxia
- Behavioral problems
- Bone fractures
- Bulbar palsy
- Cerebellar syndrome
- Chronic diarrhea in children
- Degenerative CNS disease
- Dementia
- Epileptic seizures
- Gallstones
- Ischemic heart disease
- Juvenile cataracts
- Kidney stones
- Leukoencephalopathy
- Marinesco-Sjogren syndrome
- Mental retardation
- Mitochondrial myopathy
- Myelopathy
- Myopathic-like faces
- Nephrocalcinosis
- Nephrolithiasis
- Neurometabolic disease
- Osteoporosis
- Paraparesis
- Paraplegia
- Parkinsonism
- Peripheral polyneuropathy
- Pes cavus
- Pontocerebellar degeneration
- Psychiatric disorders
- Xanthomata