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Gamme d'année
1.
Journal of Movement Disorders ; : 99-101, 2017.
Article Dans Anglais | WPRIM | ID: wpr-211734

Résumé

We present a case of 32-year-old male with profound mental retardation and autism spectrum disorder who had presented with seizures, rigidity and elevated creatine kinase and was initially diagnosed as neuroleptic malignant syndrome (NMS). The patient subsequently had a complicated clinical course, developing refractory status epilepticus, which lead to the eventual diagnosis of progressive encephalomyelitis with rigidity and myoclonus (PERM). We discuss the clinical similarities and differences between NMS and PERM, and highlight the need to consider alternative diagnoses when the clinical picture of NMS is atypical, particularly in this patient group where the history and clinical examination may be challenging.


Sujets)
Adulte , Humains , Mâle , Trouble du spectre autistique , Trouble autistique , Creatine kinase , Diagnostic , Encéphalomyélite , Déficience intellectuelle , Myoclonie , Syndrome malin des neuroleptiques , Crises épileptiques , État de mal épileptique
2.
Journal of Movement Disorders ; : 145-148, 2017.
Article Dans Anglais | WPRIM | ID: wpr-90982

Résumé

We present a case of a 71-year-old male Chamorro patient from Guam who presented with progressive supranuclear palsy (PSP)-Richardson’s syndrome. Considering his strong family history of parkinsonism and a PSP phenotype, he was clinically diagnosed with Guam parkinsonism-dementia complex (PDC). Magnetic resonance imaging (MRI) of the brain revealed prominent midbrain atrophy with preserved pontine volume, forming the ‘hummingbird’ sign, which has not been described before in Guam PDC. Molecular analysis of the chromosome 9 open reading frame 72 gene (C9orf72) showed only 6 GGGGCC repeats. We discuss the clinico-pathological similarities and differences between PSP and Guam PDC, and highlight the topography of neuropathological changes seen in Guam PDC to explain the appearance of the ‘hummingbird’ sign on MRI.


Sujets)
Sujet âgé , Humains , Mâle , Atrophie , Encéphale , Chromosomes humains de la paire 9 , Guam , Imagerie par résonance magnétique , Mésencéphale , Cadres ouverts de lecture , Syndromes parkinsoniens , Phénotype , Paralysie supranucléaire progressive
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