Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation

Daniela Rossi, Elisa De Grandis, Chiara Barzaghi, Monica Mascaretti, Barbara Garavaglia, Elisabetta Zanotto, Giovanni Morana, Roberta Biancheri

Research output: Contribution to journalArticle

Abstract

Background: Pantothenate kinase-associated neurodegeneration (PKAN) is a neurodegenerative disorder caused by pantothenate kinase (PANK2) gene mutations. Brain magnetic resonance imaging (MRI) typically shows the " eye-of-the-tiger" sign, i.e. bilateral pallidal T2 hypointensity with a small central region of T2-hyperintensity. Aims: To describe clinical and MRI findings of a boy with early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation. Methods: Clinical, neuroradiological and molecular investigations have been performed. Results: At first observation (2. years and 10. months) the boy presented only with developmental delay and toe-walking and isolated T2 hyperintensity within globi pallidi on brain MRI. One year later, small rounded areas of markedly low signal within the globi pallidi on T2*- weighted images appeared in association with mild dystonia. PANK2 gene homozygous mutation confirmed the diagnosis of PKAN. Conclusions: In young children, PKAN should be suspected also before clinical and neuroradiological picture is fully indicative, to avoid delayed diagnosis of a genetic disease for which therapeutical options could be potentially useful if administered in paucisymptomatic subjects.

Original languageEnglish
Pages (from-to)536-538
Number of pages3
JournalBrain and Development
Volume34
Issue number6
DOIs
Publication statusPublished - Jun 2012

Keywords

  • Basal ganglia
  • Magnetic resonance imaging
  • PANK2

ASJC Scopus subject areas

  • Clinical Neurology
  • Developmental Neuroscience
  • Pediatrics, Perinatology, and Child Health

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