The Danish Society of Pediatric Neurology
Images in pediatric neurology
Making
a correct diagnose is important for treatment as well as for counseling of
patients and families. Modern technologies including DNA-studies and MR-imaging
are sometimes helpful in confirming a clinical suspicion. What is the most
likely diagnose in the 2 cases presented here?
Case 1
This
1-year-old girl with a characteristic, pleasant behaviour and delayed development
also has epilepsy. The figure depicts findings by Flouresent In Situ
Hybridization (FISH) test of lymphocytes.
Case 2
This
5-year-old boy has a progressive movement disorder including dystonia as well as
choreoathetosis. Cerebral MRI is shown.
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