Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
Sign up to receive an email alert when a new Case of the Week is posted.
January 24, 2011
Infantile Neuroaxonal Dystrophy (INAD)
- A subtype of a spectrum of disorders described by the term neurodegeneration with brain iron accumulation (NBIA).
- Majority of cases have infantile onset with mental regression, ataxia, truncal hypotonia, and tetraparesis.
- Associated with mutations in the PLA2G6 gene. Atypical form of INAD demonstrates a more varied phenotype and later onset.
- Key Diagnostic Features: Characterized by T2* hypointensity of the globus pallidi and substantia nigra due to iron accumulation. Cerebellar atrophy seen typically by two years of age, mainly involving the vermis. Increased signal within the dentate nuclei, posterior periventricular white matter has also been reported. Also, thinning of optic chiasm has been documented.
- DDx: Pantothenate kinase-associated neurodegeneration
- Rx: No Rx. Children usually do not live beyond 10 years of age.
Current Issue
Case Collections
