Pantothenate Kinase-Associated Neurodegeneration – a Case Report

Česká verzia

Authors: D. Petrleničová ¹; K. Gmitterová ¹; I. Uhrín ²; J. Benetin ³; P. Valkovič ^1,4
Authors place of work: II. Neurologická klinika LF UK a UN Bratislava ¹; Pracovisko magnetickej rezonancie, Medicína Nové Zámky, s. r. o. ²; Neurologická klinika SZU a UN Bratislava ³; Ústav normálnej a patologickej fyziológie SAV, Bratislava ⁴
Published in the journal: Cesk Slov Neurol N 2011; 74/107(2): 201-204
Category: Case Report

Summary

Pantothenate kinase-associated neurodegeneration is a rare autosomal-recessive hereditary disorder that is characterized by accumulation of brain iron. PKAN has a diverse phenotypic expression with childhood or adult onset. It manifests typically with speech disturbances and combinations of motor symptoms such as dystonia, parkinsonism, corticospinal tract and//or retinopathy. This disorder is also associated with neurobehavioural changes. We present a case of a 25-year-old man with a speech defect and anxiety that proceeded to progressive tremor and clumsiness of the left upper extremity. Physical examination revealed signs of extrapyramidal dysfunction and corticospinal tract involvement. T2-weighted brain MRI images disclosed focal changes in the globus pallidus typical of PKAN in (“eye of the tiger sign”). Molecular genetic analysis confirmed the homozygous mutation in the gene for pantothenate-kinase 2 (PANK2). Detailed clinical examination associated with cranial imaging techniques results in appropriate genetic analysis.

Key words:
neurodegeneration – pantothenate-kinase – brain iron accumulation

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