Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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April 5, 2018
Neuroacanthocytosis
- Background:
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Neuroacanthocytosis (NA) is inherited as an autosomal dominant disease, autosomal recessive disease, or X-linked disease.
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Bassen-Kornzweig disease and Levine-Critchley syndrome have been described as 2 types of NA.
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- Clinical Presentation:
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Patient usually presents with choreiform movements and orofacial tics.
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- Key Diagnostic Features:
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Typical imaging findings show bilateral, symmetric, hyperintense signals in the anterior medial globus pallidus with surrounding hypointensity (eye of the tiger sign) on T2WI, along with acanthocytes in peripheral blood smears.
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Involvement of the caudate and putamen may be seen with minimal involvement of the globus pallidus in some patients.
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- Differential Diagnoses:
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Friedreich ataxia
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Huntington disease
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Other differentials based on imaging findings (bilateral, symmetric signal changes in globi pallidi) include pantothenate kinase-associated neurodegeneration (eye of the tiger sign) and genetic, acquired (hepatic encephalopathy), and toxic (carbon monoxide poisoning) causes that can be easily ruled out on the basis of the patient's age, clinical history, and peripheral blood smear examination, as acanthocytes are only seen in patients with NA.
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- Treatment:
- Treatment is directed to reduce symptoms of the patient.
- Certain antipsychotic and antiepileptic drugs have been used.
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