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

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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

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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

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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