RESUMEN
We report a case of a 53-year-old man presenting with depressed alertness and severe excessive sleepiness in the setting of neurosarcoidosis. Neuroimaging demonstrated hypothalamic destruction due to sarcoidosis with a CSF hypocretin level of 0 pg/mL. The patient also experienced respiratory depression that presumably resulted from hypocretin-mediated hypothalamic dysfunction as a result of extensive diencephalic injury. This is a novel case, demonstrating both hypocretin deficiency syndrome, as well as respiratory dysfunction from destruction of hypocretin neurons and extensive destruction of key diencephalic structures secondary to the underlying neurosarcoidosis.
Asunto(s)
Enfermedades del Sistema Nervioso Central/complicaciones , Enfermedades Hipotalámicas/complicaciones , Hipoventilación/congénito , Narcolepsia/complicaciones , Orexinas/deficiencia , Sarcoidosis/complicaciones , Apnea Central del Sueño/complicaciones , Enfermedades del Sistema Nervioso Central/líquido cefalorraquídeo , Humanos , Enfermedades Hipotalámicas/líquido cefalorraquídeo , Enfermedades Hipotalámicas/fisiopatología , Hipotálamo/fisiopatología , Hipoventilación/líquido cefalorraquídeo , Hipoventilación/complicaciones , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Narcolepsia/líquido cefalorraquídeo , Orexinas/líquido cefalorraquídeo , Sarcoidosis/líquido cefalorraquídeo , Apnea Central del Sueño/líquido cefalorraquídeoRESUMEN
Hypocretin-1 is involved in the regulation of the sleep-wake cycle. The authors prospectively assessed CSF hypocretin-1 levels in 44 consecutive patients with acute traumatic brain injury (TBI). Compared with controls, hypocretin-1 levels were abnormally lower in 95% of patients with moderate to severe TBI and in 97% of patients with posttraumatic brain CT changes. Hypocretin-1 deficiency after TBI may reflect hypothalamic damage and be linked with the frequent development of posttraumatic sleep-wake disorders.