Thapa Lekhjung, Bhattarai Suman, Shrestha Milan P, Panth Rajesh, Gongal Dinesh Nath, Devkota Upendra Prasad
Department of Neurology, National Institute of Neurological and Allied Sciences, Kathmandu, Nepal.
Department of Pathology, National Institute of Neurological and Allied Sciences, Kathmandu, Nepal.
Int Med Case Rep J. 2016 Feb 23;9:39-42. doi: 10.2147/IMCRJ.S95882. eCollection 2016.
Neuroacanthocytosis is a group of rare disorders. We report a 36-year-old right-handed female who presented with gradually progressive abnormal facial movements, generalized weakness, and lower-lip biting starting 4 years ago. On examination, she had lower-lip ulcer, orofacial dyskinesias, and peripheral neuropathy. Her peripheral blood smears showed acanthocytosis and magnetic resonance imaging revealed atrophied head of caudate nuclei and putaminal hyperintensities on T2-weighted and fluid attenuated inversion recovery images. Work-up for autoimmune and metabolic causes was negative. She was diagnosed with chorea-acanthocytosis, an entity under neuroacanthocytosis syndrome and the patient was offered symptomatic treatment.
