Abstract
BackgroundSubacute 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.Case presentationWe 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.ConclusionsFirstly, 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.
Highlights
Subacute combined degeneration of the spinal cord is a potentially reversible myelopathy typically associated with vitamin B12 deficiency
Case presentation A 57-year-old Caucasian woman with a background of treatment-resistant schizophrenia for over 30 years, stable on clozapine, was admitted after being found confused, dysarthric and dehydrated at home, having been uncontactable for several days. Her medical history included unprovoked pulmonary emboli on warfarin and emphysema, and her family history was significant for one brother with schizophrenia and one unaffected sister, but no known family members with Motor neuron disease (MND) or dementia-type diagnoses
The diagnostic difficulties posed by coexistence of vitamin B12 deficiency and another neurological pathology, motor neuron disease (MND)
Summary
Variability in neurocognitive and imaging manifestations of B12 deficiency can limit delineation of other pathologies.
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