Neuropediatrics 2006; 37 - PS4_6_3
DOI: 10.1055/s-2006-945818

USEFULNESS OF BRAIN MRI IN DIAGNOSIS OF NBIA IN PKAN AND NON-PKAN PATIENTS

T Kmiec 1, E Jurkiewicz 1, S Jozwiak 1, I Pakula-Kosciesza 1, M Ebhart 1, H Prokisch 1
  • 1Department of Neurology and Epileptology, Warsaw, Mazowsze, Poland

Objectives: The neurodegeneration with brain iron accumulation NBIA (formerly HSS) is a rare inherited progressive encephalopathy, connected with kinase-associated neurodegeneration (PKAN) due to defects in the pantothenic kinase-2 gene (PANK2) mapped to chromosome 20p12.3. Typically begins in childhood with dystonia, retinitis pigmentosa and specific pattern on brain MRI called the 'eye of the tiger' sign.

Methods: Group of 21 children (11 boys,10 girls) with clinical signs of NBIA was evaluated. Age of onset of disease was 2–12yrs. The early onset form was diagnosed in 12 children and the later onset form in 9.

Results: Mutation of PANK2 in genetic tests and te presence of the 'eye of the tiger' sign in brain MRI were confirmed only in 12 pts with severe early form of NBIA (PKAN). In brain MRI 8 out of 9 pts with later onset form of NBIA had hypointensive signal of globus pallidus and only 1 the 'eye of the tiger' sign. PANK2 mutation was not found in all 9 pts with later onset form of NBIA. Conclusion: Our observations confirm the importance and usefulness of specific pattern of brain MRI in distinguishing PKAN from non-PKAN form of NBIA in children.