Feeding dystonia: A classical presentation of neuroacanthocytosis

Introduction: Neuroacanthocytosis (NA) is a heterogeneous neurodegenerative genetic disorder caused by disease specific genetic mutation. Being an extremely rare disorder, only a few thousand cases have been reported till date. This clinical entity was described by Citchley et al. and was initially named Levine–Citchley syndrome. It is characterized by movement disorder due to degeneration of the basal ganglia along with cognitive and behavior changes. The classical clinical presentation includes the troublesome abnormal involuntary movements in form of chorea, dystonia and dyskinesia. Self mutilation of the lips and tongue is characteristic of choreoacanthocytosis. The NA syndromes have been broadly divided into two subtypes, (i) core NA syndromes, and (ii) conditions with alterations in the lipoprotein metabolism. The genes of the different NA syndromes have been identified but the mechanism of these genetic mutations is not known. The management of NA is primarily symptomatic and rehabilitative. Case Report: We are describing a case of neuroacanthocytosis with typical phenotype of choreoacanthocytosis. The phenomenon of feeding dystonia is classically being discussed in this report. Neuroimaging demonstrated the atrophy of the caudate nucleus resembling Huntington’s chorea. Acanthocytic red blood cells were seen in peripheral smear in our patients. Conclusion: The recognition of neuroacanthocytosis is improved due to better characterization of the clinical symptoms and investigations of this heterogeneous entity. The presented case describes the typical clinical characteristics and investigations supporting the diagnosis of this under diagnosed clinical syndrome.