A 65-year-old man is found dead at his home due to a suspected suicide. The family reports that the patient has been having difficulty swallowing, dyspnea on exertion, and arm and leg weakness for the past several months and had undergone a medical workup. They suspect the physician may have given bad news and the patient ended his life so he would not have to live with the diagnosed condition. External examination shows atrophy of the muscles of the right lower and left upper extremities. Autopsy would most likely reveal which of the following additional findings?

Question

A 65-year-old man is found dead at his home due to a suspected suicide.  The family reports that the patient has been having difficulty swallowing, dyspnea on exertion, and arm and leg weakness for the past several months and had undergone a medical workup.  They suspect the physician may have given bad news and the patient ended his life so he would not have to live with the diagnosed condition.  External examination shows atrophy of the muscles of the right lower and left upper extremities.  Autopsy would most likely reveal which of the following additional findings?

Quizplus · Accepted Answer

11ec160b_39ab_46eb_9249_cb29d78ada84_MD0001_00 This patient with a history of bulbar symptoms (eg, difficulty swallowing) and limb weakness has postmortem evidence of asymmetric muscular atrophy. This presentation is concerning for amyotrophic lateral sclerosis (ALS), a progressive, fatal neurodegenerative disease of both upper motor neurons (UMNs) and lower motor neurons (LMNs). ALS has the highest incidence in patients age 60-75. The most common initial presentation includes asymmetric weakness of the extremities; bulbar symptoms are also common and can include dysphagia and dysarthria. Because any upper or lower motor neuron can be affected, the initial presentation may vary widely. UMN degeneration leads to spasticity and hyperreflexia; LMN degeneration leads to denervation atrophy of skeletal muscles. The most concerning site of LMN degeneration involves the diaphragm because it results in dyspnea, as reported by this patient, and eventual respiratory failure. Diaphragmatic function can be monitored with imaging studies (eg, ultrasound) and via testing of respiratory muscle strength (eg, sniff tests); postmortem studies typically demonstrate striking diaphragmatic atrophy. (Choice A) Degeneration of dorsal spinal roots would lead to sensory dysfunction, not motor dysfunction, as seen in this patient. Sensory dysfunction is not a classic feature of ALS. (Choice C) Because ALS results primarily in neurodegeneration of motor neurons, atrophy is seen predominately in the motor cortex rather than diffusely throughout the brain. (Choice D) Inflammatory infiltrates in skeletal muscles are seen in inflammatory myopathies, including dermatomyositis and polymyositis. Long-standing disease can lead to muscle atrophy; however, ALS causes muscle atrophy due to denervation rather than inflammation. (Choice E) Plaques and gliosis in periventricular white matter are characteristic pathologic findings of multiple sclerosis. These inflammatory demyelinating lesions occur in the CNS; therefore, weakness is often associated with spasticity (UMN sign) rather than atrophy (LMN sign). In addition, it typically occurs in younger women (age <55). Educational objective: Amyotrophic lateral sclerosis causes degeneration of both upper and lower motor neurons and can result in bulbar and skeletal muscle weakness. Denervation atrophy can affect the diaphragm and contribute to respiratory failure.

A 65-Year-Old Man Is Found Dead at His Home Due