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

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 (2years and 10months) 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.

• Authors: Daniela Rossi, Elisa De Grandis, Chiara Barzaghi, Monica Mascaretti, Barbara Garavaglia, Elisabetta Zanotto, Giovanni Morana, Roberta Biancheri
• Journal: Brain & development (Brain Dev) Vol. 34 Issue 6 Pg. 536-8 (Jun 2012) ISSN: 1872-7131 [Electronic] Netherlands
• PMID: 21999968 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Chemical References

• Iron
• Phosphotransferases (Alcohol Group Acceptor)
• pantothenate kinase

Topics

• Age of Onset
• Brain (metabolism)
• Child, Preschool
• Globus Pallidus (pathology)
• Homozygote
• Humans
• Iron (metabolism)
• Magnetic Resonance Imaging
• Male
• Pantothenate Kinase-Associated Neurodegeneration (genetics, metabolism, pathology)
• Phosphotransferases (Alcohol Group Acceptor) (genetics)