Session Information
Date: Thursday, June 8, 2017
Session Title: Pediatric Movement Disorders
Session Time: 1:15pm-2:45pm
Location: Exhibit Hall C
Objective:
To describe the clinical spectrum, neurological features and MRI findings of 7 patients, diagnosed as having PKAN.
Background:
Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by the mutation of the pantothenate kinase 2 (PANK2) gene. PKAN usually begins in childhood, progresses irreversibly and leads to death in early adulthood.
Methods:
Seven cases of having PKAN were reviewed In order to establish the clinical history at the beginning and during the disease. Laboratory tests including serum copper, ceruloplasmin, and others were performed in order to exclude other diseases with similar presentation. A Magnetic Resonance Imaging was obtained using 1.5 Tesla MRI. All patients receive a full neuro-ophthalmological evaluation. Post-mortem diagnosis was confirmed in two patients.
Results:
From a clinical point and according to the symptoms at presentations we identify one group with a movement disorder presentation and another group with a behavior and cognitive presentation. The former group (4) was characterized by earlier onset and uniform presentation. Consanguinity was present in two patients. The average time from the beginning of the disease to the correct diagnosis was about 3.2 years been longer in those with a later presentation. During the evolution of the disease gait abnormalities, cognitive deterioration, dystonia parkinsonism, and pyramidal signs were present in all the cases. In all the cases the MRI (n=7) showed pallidal abnormalities consisted of decreased signal intensity on T2-weighted images, compatible with iron deposits, and of a small area of hyperintensity in its internal segment (“eye of the tiger” sign). One patient had acanthocytes in peripheral blood smear and two out of seven retinal degeneration.
Conclusions:
This study emphasizes the phenotypic heterogeneity in PKAN according to the age of presentation, as well brings out the common features shared by patients with the evolution of the disease where the combination generalized dystonia, parkinsonism and early dementia in addition to MRI findings could be considered as highly suggestive of a diagnosis of PKAN in living patients.
To cite this abstract in AMA style:
E. Guartazaca Guerrero, J. Llibre Guerra, A. Soto Lavastida, A. Rodriguez Salgado, G. Bringas, J. Diaz Marante. The spectrum of Pantothenate kinase-associated neurodegeneration.A view from seven cases Cohort. [abstract]. Mov Disord. 2017; 32 (suppl 2). https://www.mdsabstracts.org/abstract/the-spectrum-of-pantothenate-kinase-associated-neurodegeneration-a-view-from-seven-cases-cohort/. Accessed June 14, 2025.« Back to 2017 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/the-spectrum-of-pantothenate-kinase-associated-neurodegeneration-a-view-from-seven-cases-cohort/