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Semin Pediatr Neurol. 2012 Jun;19(2):67-74. doi: 10.1016/j.spen.2012.04.001.

Neurodegeneration with brain iron accumulation: a diagnostic algorithm.

Author information

  • 1Sanford Children's Health Research Center, Sanford Children's Specialty Clinic, Department of Pediatrics, University of South Dakota, Sanford School of Medicine, Sioux Falls, SD, USA. michael.kruer@sanfordhealth.org

Abstract

The diagnosis of neurodegeneration with brain iron accumulation (NBIA) can be challenging, particularly given recent advances in NBIA genetics and clinical nosology. Although atypical cases continue to challenge physicians, by considering clinical features along with relevant neuroimaging findings, the diagnosis of NBIA can be made confidently. In addition, the identification of genetically distinct forms of NBIA allows clinicians to better provide prognostic and family counseling services to families and may have relevance in the near future as clinical trials become available. We describe a heuristic approach to NBIA diagnosis, identify important differential considerations, and demonstrate important neuroimaging features to aid in the diagnosis.

PMID:
22704259
PMCID:
PMC3381651
DOI:
10.1016/j.spen.2012.04.001
[PubMed - indexed for MEDLINE]
Free PMC Article
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