Résumé
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), which is caused by mutations in SACS gene, is a very rare neurodegenerative disorder characterized by the clinical triad of early onset cerebellar ataxia, pyramidal tract features, and sensorimotor polyneuropathy. Herein, we report a 35-year-old Korean male who presented with gait disturbance and lower extremity weakness. Neuroimaging and ophthalmologic evaluation revealed features consistent with ARSACS. Mutation in SACS gene was demonstrated in clinical exome sequence analysis and the patient was finally diagnosed as ARSACS.
Sujets)
Adulte , Humains , Mâle , Ataxie , Ataxie cérébelleuse , Exome , Démarche , Membre inférieur , Spasticité musculaire , Maladies neurodégénératives , Neuroimagerie , Polyneuropathies , Tractus pyramidaux , Analyse de séquence , Dégénérescences spinocérébelleusesRésumé
The most frequently reported neurological complication of a wasp sting is ischemic stroke. We treated a patient with wasp sting with unusual complications. A 52-year-old man was hospitalized for anaphylactic shock after multiple wasp stings. Although the patient recovered consciousness after 2 days, he had global aphasia and right hemiparesis. Brain magnetic resonance imaging and angiography revealed high-intensity signals in the left basal ganglia and cerebral cortex and stenosis of the left middle cerebral artery. After 2 days, the middle cerebral artery stenosis improved. After 5 days, diffusion-weighted imaging showed an enlarged lesion in the left frontal cortex. The infarct in this case was due to a predominantly unilateral vasoconstrictive hypoxic brain injury from wasp stings.