About the test

  • 1 Point per correct full question, i.e. max 15 points for the whole test
  • Grading: pass/no pass only (minimum requirement for pass = 66% = 10 points)
  • * 1. Which cellular pathology is present in all lysosomal storage disorders?

    * 2. For which 3 reasons are early diagnosis of lysosomal storage disorders important?

    * 3. Which 3 body tissues are highly dependent on mucopolysaccharides?

    * 4. What type of compound should be looked for in a urine sample to diagnose MPS?

    * 5. What type of disease onset characterises inborn metabolic errors such as lysosomal storage diseases?

    * 6. Which body part is typically not affected at the onset of a lysosomal storage disorder?

    * 7. Which of the following problems is NOT typically seen in a 3 year old child with a lysosomal storage disease?

    * 8. Which of the following examinations will not help specifically to reveal a possible lysosomal storage disease?

    * 9. Which two medical specialties are most appropriate for referral of patients with potential MPS?

    * 10. Why may a bone marrow transplantation be justified in children with MPS?

    * 11. Which 3 historical features are typical for an adolescent with an undiagnosed lysosomal storage disease?

    * 12. What type of clinical assessment is a good and inexpensive first-line test to confirm possible abdominal organ enlargement?

    * 13. What accumulates abnormally in Niemann Pick Type C?

    * 14. What is the most typical clinical symptom for Niemann Pick C?

    * 15. For which three reasons are Niemann Pick C and MPS important rare diseases to know about for primary care paediatricians?

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