From: Rare co-occurrence of multiple sclerosis and Wilson’s disease – case report
Patient I [7] | Patient II [7] | Patient III [8] | Patient IV [9] | Present Case | |
---|---|---|---|---|---|
Age of onset | 25 years | 33 years | 12 years | 42 years | 33 years |
Extrapyramidal symptoms | hypomimia, sialorrhea, dysarthria, tremor, ataxia | – | – | – | – |
Sensory symptoms | – | – | sensory disturbances in both legs | sensory disturbances on the right side of the face and body | sensory disturbances in both legs, four limb paresthesia |
First diagnosed | MS | MS | Wilson’s disease | MS | MS |
Course of MS | mild | mild | mild | mild | showing activity while on platform therapy |
Psychiatric symptoms | behavior disorder | – | – | sings of encephalopathy | mood disorder, anxiety |
MRI lesions (location) | periventricular WM, pons, cerebellum, thalamus | periventricular WM | periventricular WM, spinal cord | periventricular and subcortical WM, corpus callosum, spinal cord, basal ganglia | periventricular WM, thalamus, spinal cord |
CSF | OCBs | IgG index ↑, OCBs | IgG index ↑, OCBs | OCBs | IgG index ↑, OCBs |
Kayser-Fleischer ring | – | + | NA | + | – |
Serum ceruloplasmin | ↓ | ↓ | ↓ | normal | ↓ |
Genetic test (ATP7B gene) | 1. allele: H1069Q 2. allele: Q1351X | 1. allele: H1069Q 2. allele: A1135fs | 1. allele: H1069Q 2. allele: c.2305insC, Codon 769, Exon 8 | 1. allele: R778L 2. allele: R778L | 1. allele: H1069Q 2. allele: R778Q |
Familial occurrence | 1. sibling: MS 2. sibling: Wilson’s disease | 1. sibling: Wilson’s disease | NA | none | none |