A 16year old boy presents with symptoms similar to parkinsonism, on examination found to have dytonia and had no abnormalities on FD-PET scan, had clinical response to treatment with levodopa. What is the likely diagnosis?
Correct Answer: Dopa-responsive dystonia
Description: Parkinsonism can also be seen in Dopa-Responsive Dystonia, a condition that results from a mutation in the GTP-Cyclohydrolase 1 gene which can lead to a defect in a cofactor for tyrosine hydroxylase and the impaired manufacture of dopa and dopamine. While it typically presents as dystonia. it can present as a biochemically based form of parkinsonism (due to reduced synthesis of dopamine) which closely resembles PD and responds to levodopa, but is not associated with abnormalities on fluoro-dopa positron emission tomography (FD-PET) nor neurodegeneration. This diagnosis should be considered in individuals aged <20 years who present with a clinical picture resembling PD. Ref Harrison 20th edition page 3123
Category:
Medicine
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now