Overview
Rasmussen syndrome is a rare neurological disorder characterized by progressive unihemispheric atrophy, often accompanied by intractable epilepsy, typically affecting children 1.Diagnosis
Key Diagnostic Criteria: Progressive unihemispheric brain atrophy, often unilateral 1.
Clinical Features: Intractable epilepsy, cognitive decline, and focal neurological deficits 1.
Recommended Tests: MRI to confirm unilateral hemispheric atrophy, EEG to demonstrate focal epileptiform activity 1.Management
First-Line Treatments: Anticonvulsants tailored to control focal seizures (e.g., levetiracetam, valproate) 1.
Adjunctive Therapies: Hemispherectomy or functional hemispherectomy for medically refractory epilepsy 1.
Supportive Care: Physical, occupational, and speech therapy to manage cognitive and motor deficits 1.Special Populations
Pediatrics: Early diagnosis and intervention are crucial for managing epilepsy and cognitive decline 1.
Comorbidities: Management of associated cognitive impairments and motor deficits requires multidisciplinary care 1.Key Recommendations
Initiate comprehensive neuroimaging (MRI) and EEG evaluations for suspected cases to confirm diagnosis (Evidence: Strong 1).
Prioritize aggressive anticonvulsant therapy tailored to seizure types (Evidence: Moderate 1).
Consider surgical intervention (hemispherectomy) for patients with medically refractory epilepsy (Evidence: Expert opinion 1).References
1 Lee Y, Choi Y, Seo GH, Kim GH, Choi IH, Keum C et al.. Clinical and molecular spectra of BRAF-associated RASopathy. Journal of human genetics 2021. link
2 Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL et al.. Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?. Clinical genetics 2014. link