Abstract / Summary
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder, initially defined as a purely motor neuron disease (MND), marked by the progressive degeneration of motor neurons in the motor cortex, brainstem, and spinal cord. Now it is recognized as a multisystem disease, with cognitive, gastrointestinal, autonomic, neuropsychiatric features and sensory nervous system involvement. Here the authors present a case of late middle-aged female presenting with predominantly motor-sensory quadriparesis with bulbar involvement & fasciculations with length-dependent pattern of sensory involvement and frontal lobe dysfunction. These findings knitted together formed clinical phenotype of ALS with cognitive dysfunction with sensory neuropathy. Other MND mimics with potentially treatable etiologies and important prognostic implications were systematically excluded. Among them, myeloneuropathies, paraproteinemia, paraneoplastic etiology was found to be negative. Imaging markers like M-band favored ALS with atypical features. ALS with sensory neuropathy is an uncommon clinical presentation; therefore, we report this case.