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|Year : 2018 | Volume
| Issue : 4 | Page : 1204-1206
Acanthocytosis in progressive childhood dystonia
Indar Kumar Sharawat1, Swarup Ghosh1, Prateek Bhatia1, Vikas Bhatia2, Arushi Gahlot Saini1
1 Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India
2 Department of Radiodiagnosis and Interventional Radiology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
|Date of Web Publication||18-Jul-2018|
Dr. Arushi Gahlot Saini
Pediatric Neurology and Neuro-developmental Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh - 160 012
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Sharawat IK, Ghosh S, Bhatia P, Bhatia V, Saini AG. Acanthocytosis in progressive childhood dystonia. Neurol India 2018;66:1204-6
A 6-year old boy presented with an abnormal twisting-like posturing of the limbs for the past 7 months, which was insidious in onset and slowly progressive. The child suffered from frequent falls secondary to the intermittent twisting of limbs. There was a history of decline in scholastic performance. There was no history suggestive of behavioral changes, seizures, vision loss, dysarthria, drooling, and decreased facial expressions. He was born to nonconsanguineous parents with normal perinatal transition. His family history was unremarkable. On examination, he had a small head as well as the presence of dementia, rigidity, generalized dystonia, and normal fundi.
His peripheral blood smear showed acanthocytes [Figure 1]. Magnetic resonance imaging showed signal changes in the globus pallidi [Figure 2]a,[Figure 2]b,[Figure 2]c. Next-generation sequencing revealed a pathogenic homozygous mutation in the PANK 2 gene (c.1169T>A, exon 3), and a diagnosis of pantothenate kinase–associated neurodegeneration (PKAN) was concluded.
|Figure 1: Microscopic photograph of the peripheral blood smear showing the presence of many acanthocytes (arrow) under high power (×100; oil immersion)|
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|Figure 2: Magnetic resonance imaging of the brain, axial (a) T2 weighted and (b) fluid-attenuated inversion recovery sequence images showing hypointense signal changes with a central hyperintensity involving bilateral globus pallidi suggestive of “eye of the tiger” sign. Susceptibility-weighted sequence (c) showed blooming of bilateral globus pallidi|
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PKAN is an autosomal recessively inherited, neurodegenerative disease characterized by progressive neurocognitive impairment, dystonia, choreoathetosis, optic atrophy, and retinitis pigmentosa. The classical variant has its onset in the first decade with a rapidly progressive course; most children become wheelchair-bound within a few years of disease onset. Acanthocytes are peculiar forms of erythrocytes and can be seen in various forms of congenital hemolytic anemia. Around 50% of the children with PKAN may have acanthocytes in the peripheral blood. In contrast to hemolytic anemia, the occurrence of acanthocytes in PKAN is not associated with anemia or other hematological characteristics. Peripheral acanthocytosis is a simple bedside test that may be performed in patients who have an early suspicion of this devastating disorder, especially in resource-constraint settings.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
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Acanthocytosis and the c.680 A>G mutation in the PANK2 gene: A study enrolling a cohort of PKAN patients from the Dominican Republic. PLos One 2015;10:e0125861.
[Figure 1], [Figure 2]