Olmos-López A, von Son-de Fernex F

Language: Spanish
References: 19
Page: 120-128
PDF size: 1423.03 Kb.

ABSTRACT

Introduction: Hemimegalencephaly (HME) is an uncommon hamartomatous disorder, is characterized by the enlargement of one cerebral hemisphere with cytologic dysgenesis and dysmorphia, including abnormal cerebral gyration (pachygyria, polymicrogyria and/or agyria), areas of lissencephaly, and heterotopia. The classical triad includes developmental delay, severe intellectual disability and seizures.
Case report: We present the case of a 9-yearold female who was referred to our pediatric neurology department at the age of 1 month presenting infantile spasm, impossible to be quantified, characterized by flexion and extension of the thoracic limbs, which were phenytoinresistant developmental delay and showing an hypsarritmia pattern in the EEG. MRI making evident an isolated left hemimegalencephaly according to Flores-Sarnat (2002). She presents a change in the course of seizures with infantile spasm remission and the presence of partial (focal) seizures every month, with EEG pattern presenting spikes, continuous spike-slow wave complexes in the left hemisphere, actual treatment based on levetiracetam, topiramate, and lacosamide.
Conclusions: West syndrome (WS), an age dependant epileptic encephalopathy, is one of the known causes for drug-resistant epilepsy which can evolve to Lennox-Gastaut syndrome or focal and generalized seizures, the range of occurrence vary during the lactation period around the 4th and 6th month of life, nevertheless earlier presentation has been associated with severe brain structure disorders. Once the diagnosis of WS has been made, it is important to discard the structural malformations via MRI, as well as metabolic disorders. First line treatment is based on adrenocorticotropic hormone (ACTH), vigabatrin or valproic acid. Phenytoin, carbamazepine and oxcarbazepine, don’t belong to the first line treatment of SW and according to the patients evolution, different antiepileptic schemes can be considered.

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