Article Figures & Data
Figures
- Figure 1A
- Cranial MRI in 2019 at the admission Brain magnetic resonance imaging (MRI) indicated characteristics of cerebral small-vessel disease (CSVD) with (a, FLAIR) white matter hyperintensities, b, FLAIR) lacunes, c, T1) cerebral atrophy, d, T2) cerebral enlarged perivascular spaces, e, SWI) microbleeds in bilateral pons, basal ganglia, and subcortex. f) Bilateral temporal poles were intact in the temporal lobe.
- Figure 1B
- Cranial MRI in 2019 at the admission brain magnetic resonance imaging (MRI) cervical and thoracis spinal cord scanning did not show spinal cord atrophy (a, b).
- Figure 1C
- Brain magnetic resonance imaging (MRI) (T2 FLAIR) indicated abnormal signals of periventricular white matter lesions gradual expanded from 2015 to 2019.
- Figure 2
- NGS results showed heterozygous deletion variation on chr15: 22833477-23086385, encompassing 4 genes NIPA1, NIPA2, CYFIP1, and TUBGCP5 (A). This deletion was confirmed by MLPA (B).
Tables
Ages Symptoms Treatment and response 44 years old Inflexibility and weakness of his left leg when he stepped on a bus. No treatment 46 years old Two episodes of exacerbation of left leg weakness and he had difficulty in climbing upstairs and riding a bicycle. He was treated as ischemic stroke but with no effect. 47 to 48 years old He had three episodes of numbness and weakness of the left limbs. From this time, he developed urinary incontinence. He was treated as multiple sclerosis using methylprednisolone 500 mg qd × 5 days, with limited alleviation. 50 years old Stiffness on the buttock and legs and difficult in walking. Intramuscular injection of cobalamin 500 µg/day and oral folate 5 mg/day for one month, oral aspirin 100 mg/day, rosuvastatin 10 mg/day, but showed no improvement. 52 years old Telephone follow up Symptoms worsen gradually and he has to stay in wheelchair.
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