RESUMEN
We report a 5-year-old patient with adrenal insufficiency (AI) who had a subacute monophasic neurologic illness and brainstem and striatal lesions on brain imaging. The prominent electrolyte abnormalities in AI indicate that extra and central pontine myelinolysis is the likely cause. An association between AI and extra pontine myelinolysis has not previously been reported in children.
Asunto(s)
Insuficiencia Suprarrenal/diagnóstico , Mielinólisis Pontino Central/diagnóstico , Hormona Adrenocorticotrópica/sangre , Tronco Encefálico/patología , Preescolar , Cuerpo Estriado/patología , Humanos , Hidrocortisona/sangre , Masculino , Examen Neurológico , Puente/patología , Equilibrio Hidroelectrolítico/fisiologíaAsunto(s)
Enfermedades de los Ganglios Basales/diagnóstico , Enfermedades de los Ganglios Basales/etiología , Ganglios Basales/patología , Encefalitis/complicaciones , Adolescente , Enfermedades de los Ganglios Basales/patología , Niño , Preescolar , Encefalitis/diagnóstico , Encefalitis/patología , Encefalitis Viral/complicaciones , Encefalitis Viral/diagnóstico , Encefalitis Viral/patología , Femenino , Estudios de Seguimiento , Humanos , India , Lactante , Imagen por Resonancia Magnética , Masculino , Examen Neurológico , Pronóstico , Remisión Espontánea , Tomografía Computarizada por Rayos XRESUMEN
A 14-month-old girl had experienced sudden episodes of breath-holding and spasms of the trunk and limb muscles, leading to cyanosis and loss of consciousness since 3 months of age. Her clinical features and electromyography suggested Stiffman syndrome, and her response to high-dose diazepam and baclofen confirmed the diagnosis. Stiffman syndrome is a rare entity, rarer still in childhood. This is the youngest case of sporadic Stiffman syndrome reported in literature. Distinguishing Stiffman syndrome from similar conditions such as Schwartz-Jampel syndrome or neuromyotonia is important because administration of GABAergic agents (valproate, baclofen, diazepam) elicits a good response.