A patient with Creutzfeldt-Jakob disease presenting with amyotrophy: A case report

被引：6
作者：
Panegyres P.K. [1 ,2 ,3 ]
Armari E. [1 ]
Shelly R. [3 ]
机构：
[1] Neurodegenerative Disorders Research Pty Ltd, Subiaco, Perth 6008, WA
[2] Neurology Unit, Department of General Medicine, Joondalup Health Campus, Joondalup 6027, WA, Shenton Avenue
[3] Department of General Medicine, Joondalup Health Campus, Joondalup 6027, WA, Shenton Avenue
来源：
Journal of Medical Case Reports | / 7卷 / 1期
关键词：
Amyotrophy; Anterior horn cells; Creutzfeldt-Jakob disease;
D O I：
10.1186/1752-1947-7-218
中图分类号：
学科分类号：
摘要：
Introduction. Creutzfeldt-Jakob disease (CJD) is an ultimately fatal, neurodegenerative disease caused by misfolded prion protein aggregation and accumulation. The development of amyotrophic features has been described in CJD, though rarely as an early or prominent feature. Consequently, the significance of amyotrophy in prion disease etiology remains unclear. Case presentation. Our patient, a healthy 70-year-old French/Algerian man, presented to our hospital following a work-related fall and was admitted with lower limb skeletal muscle atrophy and fasciculations; the fasciculations progressed to involve the trunk, upper limbs and face. Within days, he developed evidence of a progressive ascending neurological syndrome and subsequent brain involvement with supranuclear palsy of upgaze, catalepsy and death 36 days after symptom onset. Amyotrophy remained the principle feature of his disease. Dementia started to develop within 10 days of the onset of his amyotrophy. Prion disease was confirmed at postmortem. Conclusions: Our observations suggest an unusual form of prion disease with prominent early involvement of anterior horn cells, ascending prion propagation in the central nervous system and a grave prognosis. © 2013 Panegyres et al.; licensee BioMed Central Ltd.
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