An autopsy case of facial-onset sensory and motor neuronopathy with central sleep apnea syndrome

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To the Editor: Facial-onset sensory and motor neuronopathy (FOSMN) is a rare syndrome characterized by asymmetric facial numbness or paresthesia, progressive bulbar palsy, and limb weakness.1 Histopathological findings often show TDP-43-positive inclusions and cell loss, suggesting a TDP-43 proteinopathy.2 We report an autopsy-confirmed case of FOSMN with central sleep apnea, highlighting medullary respiratory regulation network involvement. A 67-year-old man presented with dysesthesia of the tongue and loss of sweet-taste sensation. He had a history of prostate cancer resection and is on treatment for hypertension, but does not have any respiratory diseases. His symptoms progressed to total loss of taste and facial dysesthesia by 1 year after onset. The facial dysesthesia spread from the perioral area to the left half of his face. Three years after the onset, he developed dysphagia and drooling from the left corner of his mouth, and sensory abnormality spread to the right side of his face. He gradually felt unsteadiness with a floating sensation during walking and also complained of insomnia. Neurological examination revealed decreased vibratory sensation of the upper and lower extremities, but no muscle weakness or cerebellar signs were found. His tendon reflexes were diminished in biceps, triceps, patellar, and Achilles tendons. His vital capacity (VC) was normal (2.95 L, %VC 89%). At 5 years after onset, he complained of distal muscle weakness in the upper extremities and his VC declined to 2.55 L (%VC 71.2%). Arterial blood gas examination revealed hypercapnia, and polysomnography revealed central hypoventilation during sleep. At 6 years from onset, his muscle weakness progressed and spread to the neck and proximal upper and lower extremities. At 7 years after onset, he passed away due to CO2 narcosis. His cognitive function was maintained throughout the disease course. His blink reflexes were initially normal, but follow-up tests revealed prolonged and eventually absent responses. Sensory evoked potentials from median nerve stimulation showed a delayed N13 to N20 latency. Brain MRI scans showed no significant abnormalities, and specific autoantibodies, including anti-ganglioside, anti-neural, or anti-IgLON-5 antibodies, were not found. Steroid treatment could not halt his disease progression.

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