Neurological problems

Early neurological signs and symptoms of CTX can be subtle and easily mistaken for other problems

Behavioral and developmental issues accompanied by frequent diarrhea may be a sign of CTX

For many parents, developmental delay, attention deficit hyperactivity disorder (ADHD), behavioral problems, and learning disabilities have become routine things to watch out for in school-aged children. Although these problems can have many causes, one of these causes could be CTX. Because of the slow buildup of cholestanol in the brain in people with CTX, it can take years for neurological problems to show up. Make sure to consider the age and look for other symptoms such as frequent diarrhea and early cataracts in both eyes that may indicate they are caused by CTX.

Some examples of how neurological problems could appear throughout life

Infants and children with signs of developmental delay, frequent diarrhea, and/or vision problems

Babies and children with CTX may hit early milestones (eg, walking and talking) at a normal age, but end up falling behind when they reach school age. They may have learning difficulties or continued babyish behavior, be unable to take care of themselves like other children can, or have trouble with schoolwork. Before finding out that they had CTX, some children have been diagnosed with learning disorders, behavioral difficulties, ADHD, autism spectrum disorders, etc. Seeing any of these signs of developmental delay coupled with symptoms such as frequent diarrhea and/or vision problems, should prompt you to talk to your doctor about testing for CTX to prevent further serious damage.

Teenagers or adults with worsening behavioral or mental problems and developing tendon xanthomas

Without early diagnosis and the right care, neurological problems will usually get worse and can cause problems with walking, early dementia (problems with memory, thinking, language, judgment, and behavior), and psychiatric or mental problems. By this age in people with CTX, it’s possible tendon xanthomas or unusual bumps may also develop on the backs of elbows, knees, or Achilles heels. If you see evidence of neurological problems in a teenager or an adult that is suddenly beginning to fall behind, especially combined with early cataracts in both eyes or signs of tendon xanthomas, talk to your doctor about testing for CTX immediately.

Some examples of how CTX can show up with neurological problems in a child or teenager:

  • Child may exhibit poor school performance, learning difficulties, and lack of age-appropriate self-care skills
  • Child with ADHD and early cataracts in both eyes
  • Child with behavioral problems and chronic diarrhea
  • Teenager with personality disorder or early dementia and tendon xanthomas
  • Child or teenager with seizures and history of frequent diarrhea

Because these are just examples, it’s important to pay attention to any neurological problems as they can vary.

Suspect CTX? Learning difficulties, developmental delays, or behavioral problems are additional clues that it could be CTX.