RESUMEN
Tap seizure is a type of reflex myoclonic epilepsy in which seizures are evoked mainly by unexpected tactile stimuli and which is classified among the electroclinical syndromes of infancy. This condition, whose onset is in the first two years of life, is characterized by excellent prognosis and is extremely rare. We reviewed all published articles and case reports on Reflex Myoclonic Epilepsies focusing on touch-induced seizures in order to clarify clinical and electroencephalographic findings. Our aim is to increase knowledge about this specific disorder in order to help pediatricians avoid extensive investigations when making their diagnosis and reassure parents regarding absence of long-term complications.
Asunto(s)
Epilepsia Refleja/diagnóstico , Epilepsia Refleja/fisiopatología , Epilepsia Mioclónica Juvenil/diagnóstico , Epilepsia Mioclónica Juvenil/fisiopatología , Encéfalo/fisiopatología , Epilepsia Refleja/terapia , Humanos , Lactante , Epilepsia Mioclónica Juvenil/terapia , Convulsiones/diagnóstico , Convulsiones/fisiopatología , Convulsiones/terapia , TactoRESUMEN
We report a 9-year-old boy, with childhood cerebral X-linked adrenoleukodystrophy (CCALD), presenting with an episode of loss of consciousness, fixed gaze, hypotonia and vomit with spontaneous resolution and post-ictal sleep. Behavioural impairment has been observed since the previous five months. Magnetic Resonance Images (MRI) revealed isolated bilateral, symmetric, confluent temporal white matter lesions involving also corticospinal tracts, with sparing of the parieto-occipital and frontal white matter. This report outlines an atypical neuroradiological localization of X-linked adrenoleukodystrophy and neuropsychological findings not specifically related to the brain involvement seen at the MRI.