![]() ![]() Genetic and neuroimaging studies are important to make an accurate diagnosis, predict evolution, offer genetic counseling, and palliative treatment. All patients have delayed psychomotor development, refractory epilepsy and were associated with different comorbidities. LIS type I includes pathologies with a poor prognosis, manifested predominantly in the 1st year of life. Two children died, they had diffuse agyria. Regarding neuroimaging findings, paquigiria was present in 9 (41%) children. Regarding comorbidities: 15 (68%) had gastroesophageal reflux disease and 14 (63%) had recurrent pneumonia. Drug-resistant epilepsy was present in 17 (77%) patients. Epilepsy was found in 19 (86%), of these 6 had epileptic spasms, 7 had West syndrome, and 5 evolved to Lennox-Gastaut. All (100%) had neurodevelopmental delay, 19 (86%) intellectual disability. Regarding etiology: 6 cases were due to cytomegalovirus, 1 to Zika, and 1 to microdeletion diagnosed as Miller-Dieker syndrome. Age at diagnosis: 4 (18%) children under 1 month due to ventricular dilation on ultrasound and epileptic spasms 13 (59%) children of 1 month-1 year due to microcephaly, drug-resistant epilepsy, and neurodevelopmental delay 5 (22%) children over 1 year. We included a total of 22 patients, 15 (68%) were male. Retrospective study of children with the diagnosis of LIS, who were admitted to the National Institute of Pediatrics in Mexico City from January 2009 to December 2019. The objective of the study was to describe clinical, neuroimaging, and neurophysiological features of pediatric patients with lissencephaly (LIS) type I. It has generally been divided into two categories: classic lissencephaly or type I, and cobblestone lissencephaly or type II. The spectrum includes agyria, pachygyria and subcortical band heterotopia (SBH). The spectrum of lissencephaly (LIS) corresponds to a group of serious brain malformations in the cortex caused by a failure in neuronal migration. ![]()
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