A 55-year-old with CTX

Presenting symptoms

  • 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

Family and medical history

  • 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

Physical and neurological examination revealed a variety of problems

  • 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

Diagnosis of CTX

  • 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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CTX can cause many symptoms, some occurring at the same time.

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