Amyotrophic Lateral Sclerosis (ALS)
Patient Presentation:
C.M., a 54 year old female presents to the ED with slurred speech and dyspnea. She complains of breathing difficulty, muscle weakness, and unsteady gait for three months. She states she attributed the unsteady gait to being “clumsy”. The patient’s ABG confirms acute respiratory acidosis, and she is placed on a BiPAP® mask. Upon neurological assessment the patient’s upper and lower extremities are weak and she complains it is more difficult for her to perform fine motor functions with her hands. Upon further examination, Babinski sign is present. Although her speech is slurred, she is cognitively intact. The patient’s past medical history includes hypertension.
Differential Diagnosis:
Stroke, Multiple Sclerosis, ALS, Brain Tumor
Lab tests:
BMP: Na+ 142, K+ 3.7, Cl- 100, Mg++ 1.6, Phos 3.4, Ca++ 8.5, Glucose 122, Creatinine 1, BUN 12
CBC: Hgb 15, Hct 40, Plt 180, INR 1, RBC 4.2
ABG: pH 7.28, PaCO2 55, HCO3 27
HIV Negative, Lyme Disease Negative
Diagnosis:
The patient’s respiratory acidosis does not resolve and she is intubated upon arrival to the unit. A CT scan is performed, which was found to be unremarkable. A MRI is also performed and again shows no abnormalities. A lumbar puncture is performed at the bedside and again the results are unremarkable. Due to patient presentation, lab results, and imaging results, the neurology team determines ALS to be the patient diagnosis.
Treatment:
Because there is no cure for ALS, the patient and her family were provided education regarding the disease and options for her plan of care. Due to her endotracheal tube inhibiting speech and her decreased motor strength, C.M. communicates through the use of an alphabet board. The patient is unable to maintain her airway; therefore, she is unable to be weaned off of the ventilator. C.M., who is cognitively intact, chooses to undergo a tracheostomy and percutaneous endoscopic gastrostomy tube placement. The patient is also started on Riluzole, which blocks TTX-sensitive Na channels.
Outcome:
C.M.’s motor function continues to decline and she becomes weaker at both her upper and lower extremities. The patient is weaned from the ventilator and she is transferred to a long term care facility. The patient remains at the facility for seven months, where her motor function continues to deteriorate and she eventually cannot move both her upper and lower extremities. The patient is readmitted to the ICU due to the need for ventilator assistance. C.M. continues to deteriorate and eventually experiences full respiratory failure. C.M. dies just 18 months after diagnosis.
Case created by Carmen Moore, 2011.