Background: Amyotrophic lateral sclerosis is a chronic neurodegeneration of the upper and lower motor neurons, and it is either spinal-onset or bulbar-onset. Here we present a case of bulbar-onset ALS with its many typical features.

Case Presentation: Patient is a 47-year-old female with a past medical history of diabetes mellitus, anxiety, depression, and GERD came to the ED complaining of increasing weakness in extremities, worsening unsteady gait, blurry vision, and right side of tongue heaviness. She denied headache, nausea, vomiting or diplopia. Physical exam was unremarkable on admission. MRI revealed pituitary adenoma. The patient was discharged to follow up with her ophthalmologist and endocrinologist. Patient came back to the ED three years later, complaining worsening depression symptoms and gait unsteadiness where she couldn’t walk unassisted. She also complained of progressive trouble breathing and speaking. Patient’s son reported that the patient had increasing mood liability for the past four months, with anger outburst and uncontrollable laughing and crying. She also couldn’t perform her ADLs. The brain MRI redemonstrated stable pituitary mass compressing optic chiasm. Physical exam was remarkable for dysarthria, spasticity was noted on bilateral lower extremities, first dorsal interosseous atrophy, positive left Hoffman’s reflex, and positive bilateral pectoralis reflex. Paraneoplastic panel was ordered, which came back negative two weeks later. Nuedexta was prescribed for her pseudobulbar affect (PBA) syndrome, and baclofen was prescribed for spasticity. Furthermore, the patient was diagnosed with bulbar-onset ALS, as EMG/NCS showed evidence of neuropathy. Patient was provided an order of power chair and non-invasive ventilator, and scheduled for a regular EMG/NCS monitoring lower motor neuron function.

Discussion: This case highlighted the typical progression of bulbar-onset ALS, consisting of dysarthria and emotional liability and it’s mostly common in women. Because of the patient’s history of depression, her PBA may be mistaken as related to her mood disorder. Her incidental finding of pituitary adenoma may have confounded the symptoms of blurry vision and muscle weakness. It also highlighted the challenge of ALS diagnosis as many other neurological conditions can mimic ALS, and the importance of physical exam findings which can lead to early suspicion of ALS.

A Case of Bulbar-onset Amyotrophic Lateral Sclerosis (ALS)

Clinical Vignettes | Neurology

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A Case of Bulbar-onset Amyotrophic Lateral Sclerosis (ALS)