Esclerosis lateral amiotrófica, reto diagnóstico: Presentación de un caso clínico / Amyotrophic lateral sclerosis, diagnostic challenge: Presentation of a clinical case

Resumen La esclerosis lateral amiotrófica (ELA) es una enfermedad neurológica degenerativa que afecta la vía piramidal, a lo largo de su primera y segunda motoneurona. En Estados Unidos de América, la ELA es mejor conocida como enfermedad de Lou Gehrig, en alusión al jugador de béisbol de los Yankees que murió en 1941 debido a esta patología. Etimológicamente, esclerosis significa endurecimiento y hace referencia al estado de la médula espinal en las fases avanzadas de la enfermedad. Lateral significa "al lado" y pone de manifiesto la ubicación del daño en la médula espinal. Por último, el término amiotrófica significa "sin nutrición muscular" y se refiere a la pérdida de señales que los nervios envían normalmente a los músculos. La etiología de este trastorno es desconocida, se considera esporádico en 90 a 95% de los casos y con tendencia familiar en 5%. La supervivencia al momento del diagnóstico ronda el 20% a los 3-5 años.

Abstract Amyotrophic lateral sclerosis (ALS) is a degenerative neurological disease that affects the pyramidal pathway, along its first and second motor neurons. In the United States of America, ALS is better known as Lou Gehrig's disease, alluding to the Yankees baseball player who died in 1941 from this condition. Etymologically, Sclerosis means hardening and refers to the state of the spinal cord in the advanced stages of the disease. Lateral means "to the side" and reveals the location of the spinal cord damage. Finally, the term amyotrophic means "without muscle nutrition" and refers to the loss of signals that the nerves normally send to the muscles. The etiology of this disorder is unknown, it is considered sporadic in 90-95% of cases and with a familial tendency in 5%. Survival at diagnosis is around 20% at 3-5 years.

Amyotrophic Lateral Sclerosis Identified by Failure to Wean From Mechanical Ventilation

In most cases of amyotrophic lateral sclerosis (ALS), respiratory muscle involvement is a late complication. Only 2.7% of ALS patients presenting with their first clinical symptoms in the extremities also experience respiratory symptoms. We report a case of an 81-year-old man with ALS, diagnosed by an unexplained failure to wean from mechanical ventilation. The patient was presented with acute respiratory failure, tachypnea and respiratory acidosis. Computed tomography of the chest showed large amounts of sputum in the trachea. An endotracheal tube was inserted, and the patient was placed on volume-controlled ventilation. However, in the course of recovery, he could not be weaned from mechanical ventilation, despite the absence of cardiopulmonary impairment. Having considered other causes of respiratory failure, wediagnosed ALS after a physical and neurologic examination and electrodiagnostic testing.

A Case Report of Lou Gehrig's Disease Presenting with Rhinolalia Aperta in Its Early Stage / 대한이비인후과학회지

Lou Gehrig's disease, also called amyotrophic lateral sclerosis, is a chronic progressive motor neuron disease of an unknown etiology, characterized by upper and lower motor neuron degeneration with a resultant progressive weakness of bulbar muscles or the extremities. The early symptoms may include twitching, cramping, muscle weakness of distal extremities and slurred nasal speech. Rhinolalia aperta is abnormal speech attributable to inadequate velopharyngeal closure. Hypernasality is thequality of voice in which the emission of air through the nose is excessive due to velopharyngeal insufficiency so that the voice is highpitched and speech intelligibility deteriorates. We experienced a rare case of Lou Gehrig's disease presenting with rhinolia aperta in its early stage. We report the case with a literature review.