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Título

Facial Onset Sensory And Motor Neuronopathy (FOSMN Syndrome): A Case Report

RESUMO

Clinical case: A.M.M., male, 60 years old. This patient was referred for neurological evaluation due to an insidious complaint of left arm paresthesia, weakness and atrophy since 2003. Electroneuromyography was performed, demonstrating cervical radiculopathy. He didn't continue the medical investigation and returned in 2017 complaining that the weakness had progressed to his ipsilateral face and leg. On neurological examination, upper and lower motor neuron signs were found. In addition, midface hypoesthesia (“onion bulb”) and blink reflex abnormality were observed. Electroneuromyography was performed, demonstrating signs of denervation in bulbar segments and alteration of the blink reflex, suggesting the diagnosis of FOSMN. Discussion: FOSMN is a rare neurologic syndrome and pathogenesis is uncertain, but studies suggest that the pathophysiology is more neurodegenerative than autoimmune. Apparently, FOSMN is most likely to be a TDP-43 proteinopathy within the ALS-FTD spectrum. The mean age at onset is approximately 55 years with progressive course involving sensory disturbances in trigeminal nerve pathway, bulbar symptoms, upper extremities and, in some cases, to the lower extremities, as in this case. The diagnostic marker is the absence of the blink reflex on EMG in addition to the presence of denervation that can be found in the bulbar, cervical and thoracic preganglionic segments, although there are no specific criteria, which makes the diagnosis difficult. Final Comments: This case report emphasizes that it is very important to recognize rare diseases within the spectrum of neuromuscular disorders, such as FOSMN, in the context of progressive pain and weakness with cranial-caudal progression. However, the clinical pictures and pathophysiology of FOSMN have not been well established.

Palavras Chave

Facial; Neuronopathy; FOSMN; neurodegenerative

Área

Doenças Neuromusculares