Carbamoyl phosphate synthetase 1 deficiency
Feb. 27, 2024
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Cerebrotendinous xanthomatosis in a 32-year-old Indian man
The video demonstrates spastic speech, gaze-evoked nystagmus, impaired bilateral finger-nose test, dysdiadokokinesia, impaired bilateral heel-shin test, spastic-ataxic gait, and ankle clonus. 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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Disorders
- 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