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Title: Subacute combined degeneration of the spinal cord masking motor neuron disease: a case report.
Austin Authors: Loveland, Paula;Wong, Aaron B ;Vivekanandam, Vinojini;Lim, Wen Kwang
Affiliation: Department of Medicine and Aged Care, The Royal Melbourne Hospital, Parkville, VIC, Australia
Department of Aged Care, Austin Health, Heidelberg, Victoria, Australia
Department of Neurology, The Royal Melbourne Hospital, Parkville, VIC, Australia
Department of Medicine and Aged Care, The Royal Melbourne Hospital, Parkville, VIC, Australia
University of Melbourne, Parkville, VIC, Australia
Issue Date: 18-Nov-2019
Date: 2019
Publication information: Journal of medical case reports 2019; 13(1): 336
Abstract: Subacute combined degeneration of the spinal cord is a potentially reversible myelopathy typically associated with vitamin B12 deficiency. There is predominant involvement of spinal cord posterior and lateral tracts, and manifestations include peripheral paraesthesia, impaired proprioception, gait disturbance, neuropathy and cognitive changes. Motor neuron disease (MND) is an unremittingly progressive neurodegenerative disorder involving upper and lower motor neurons with an average prognosis of 2-3 years. The diagnosis is clinical and may be supported by electromyography. A subset of MND occurs concurrently with frontotemporal dementia (FTD-MND) and may be initially misdiagnosed as a primary psychotic disorder. We describe a 57-year-old Caucasian woman who presented with confusion and dysarthria. Low vitamin B12 levels and MRI findings led to an initial diagnosis of subacute combined degeneration of the spinal cord. Despite treatment, persistent dysarthria and presence of both upper and lower motor neuron signs on clinical examination prompted further assessment. Electromyography supported the diagnosis of MND. Comorbid chronic paranoid schizophrenia complicated the diagnostic process. We discuss overlapping features between B12 deficiency and MND as well as the neuropsychiatric overlap of B12 deficiency, FTD-MND and chronic schizophrenia. Firstly, variability in neurocognitive and imaging manifestations of B12 deficiency can limit delineation of other pathologies. Failure to improve following correction of nutritional deficiencies warrants further investigation for an alternate diagnosis. Secondly, re-evaluation of patients with comorbid mental health conditions is important in reaching timely and accurate diagnoses.
DOI: 10.1186/s13256-019-2256-8
ORCID: 0000-0002-8491-3848
Journal: Journal of medical case reports
PubMed URL: 31735167
Type: Journal Article
Subjects: Vitamin B 12
motor neuron disease
subacute combined degeneration
Appears in Collections:Journal articles

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