- A 55-year-old adult was admitted to the hospital for increasing trouble with walking and joint problems
- Doctors found patient had tendon xanthomas on the knees and elbows
- These firm, round, fatty growths measured 6 cm across
- The growths were under the skin and attached to the tendons
- Patient had difficulty in standing and walking since infancy
- Patient had suffered from cataracts in both eyes as a child
- Patient left school early because of low intelligence
- Three siblings had died in childhood, 1 from an undiagnosed neurological disorder
- Findings included
- Low intelligence
- Unsteady, stiff, and uncoordinated walk
- Skinny, weak legs
- Abnormal MRI including a decrease in brain size
- Standard laboratory test values were normal
- Because of these symptoms CTX was suspected and later confirmed by special laboratory testing
- Appropriate care was taken
- Because the patient’s disease was advanced, only slight improvements in walking were achieved
Earlier testing for CTX may have led to earlier treatment and care.
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Know how to spot CTX
CTX can cause many symptoms, some occurring at the same time.