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Case Reports
- ‘Hummingbird’ Sign in a Patient with Guam Parkinsonism-Dementia Complex
- Tianrong Yeo, Louis CS Tan
- J Mov Disord. 2017;10(3):145-148. Published online August 8, 2017
- DOI: https://doi.org/10.14802/jmd.17025
- 6,748 View
- 135 Download
- 2 Web of Science
- 2 Crossref
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Abstract
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Supplementary Material - 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.
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Citations
Citations to this article as recorded by
- Discriminative pattern of reduced cerebral blood flow in Parkinson’s disease and Parkinsonism-Plus syndrome: an ASL-MRI study
Lina Cheng, Xiaoyan Wu, Ruomi Guo, Yuzhou Wang, Wensheng Wang, Peng He, Hanbo Lin, Jun Shen
BMC Medical Imaging.2020;[Epub] CrossRef - Tauopathy and Movement Disorders—Unveiling the Chameleons and Mimics
Jacky Ganguly, Mandar Jog
Frontiers in Neurology.2020;[Epub] CrossRef
- Discriminative pattern of reduced cerebral blood flow in Parkinson’s disease and Parkinsonism-Plus syndrome: an ASL-MRI study
- Progressive Encephalomyelitis with Rigidity and Myoclonus in an Intellectually Disabled Patient Mimicking Neuroleptic Malignant Syndrome
- Zheyu Xu, Kalpana Prasad, Tianrong Yeo
- J Mov Disord. 2017;10(2):99-101. Published online March 24, 2017
- DOI: https://doi.org/10.14802/jmd.16058
- 8,882 View
- 251 Download
- 6 Web of Science
- 5 Crossref
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Abstract
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- 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.
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Citations
Citations to this article as recorded by- Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM)-like Symptoms Associated with Anti-ganglionic Acetylcholine Receptor Antibodies
Yuki Kitazaki, Masamichi Ikawa, Toru Kishitani, Tomoko Kamisawa, Shunya Nakane, Yasunari Nakamoto, Tadanori Hamano
Internal Medicine.2021; 60(14): 2307. CrossRef - A Systematic Review and Meta-Analysis of Immunoglobulin G Abnormalities and the Therapeutic Use of Intravenous Immunoglobulins (IVIG) in Autism Spectrum Disorder
Daniel A Rossignol, Richard E Frye
Journal of Personalized Medicine.2021; 11(6): 488. CrossRef - Progressive encephalomyelitis with rigidity: A Taiwanese case and review of literature
Anna Chang, Kuan-yu Lin, Kai-Ju Chuang, Patrick Waters, Sarosh Irani, Victor Mgbachi, Hsu-Ling Yeh, Li-Ming Lien, Hou-Chang Chiu, Wei-Hung Chen
Clinical Neurology and Neurosurgery.2021; 208: 106807. CrossRef - Neuroleptic Malignant Syndrome in Children with Autism Spectrum Disorder (ASD): A Case Report and Brief Review of Recent Literature
Stefano Berloffa, Claudia Dosi, Benedetta Tascini, Beatrice Fossati, Ilaria Lupetti, Gabriele Masi
Children.2021; 8(12): 1201. CrossRef - A case report of rigidity and recurrent lower limb myoclonus: progressive encephalomyelitis rigidity and myoclonus syndrome, a chameleon
Aurélie Degeneffe, Marie Dagonnier, Alain D’hondt, Jose Antonio Elosegi
BMC Neurology.2018;[Epub] CrossRef
- Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM)-like Symptoms Associated with Anti-ganglionic Acetylcholine Receptor Antibodies
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