A case of choreoacanthocytosis with marked weight loss: impact of orolingual dyskinesia.
Choreoacanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder characterized by progressive onset of hyperkinetic movements and red cell acanthocytosis. The most striking clinical feature is that of the orofacial and lingual movement abnormalities leading to severe feeding difficulties. Maintenance of proper nutrition in ChAc is a challenge. We report on a case of ChAc in a 32-year-old male in whom dramatic weight loss due to orolingual dyskinesia was the major consequence of the disease. This case report warrants more attention to the impact of orolingual dyskinesia on nutritional status in patients with ChAc.
Harirchian
Mohammad Hossein
MH
Department of Neurology, Imam Khomeini Hospital, Iranian Centre of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran. harirchm@sina.tums.ac.ir
Maghbooli
Mahdi
M
Shirani
Afsaneh
A
D000328:Adult; D002421:Caudate Nucleus / Q000473:pathology; D002819:Chorea / Q000473:pathology / Q000503:physiopathology*; D020820:Dyskinesias / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D014057:Tomography, X-Ray Computed / Q000379:methods; D015431:Weight Loss / Q000502:physiology*