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CLINICAL PROFILE OF CONGENITAL MALFORMATIONS OF NERVOUS SYSTEM - IS IT STILL AN ICEBERG???

BACKGROUND: CNS malformations are the most common problems in child neurology, which can present as varied manifestations in children. The objective of the study is to elucidate various malformations, their presentations and clinical profile. METHODS: This is a retrospective observational study conducted in our teritiary health care over a period of 15 months (Aug 2020- nov 2021). All relevant clinical, radiological and electrographic findings were collected and stored in a digital form. RESULTS: Seventy-three cases of cerebral malformations were studied. Mean age group of the study was 3.8yrs with an S.D of 5.6(3.8±5.6). Among the total cases 57% (42) were boys , 42%(31) were girls, with male to female ratio of 1.35:1. Neural tube defects were most common of all with myelomeningocoele (n=14,19%), tethered cord (n=9,12.3%), Arnold chiari malformations with hydrocephalus (n=7,9%) encephalocoele (n=3,4%), dermal sinus (n=1,1%). Common neuronal migrational disorders found were lissencephaly (n=5,6.8%), grey matter heterotropia (n=2,2%) agenesis of corpus callosum (n=6,8%,), holoprosencephaly(n=2), hemi-hemimegalencephaly(n=1), hypothalamic hamartoma(n=1). Abonrmal cortical organisation were polymicrogyria (n=3,4%), schizencephaly (n=3,4%), focal cortical dysplasia (n=3,4%), pontocerebellar hypoplasia(n=2,3%). Majority of patients had developmental delay(n=48,65%) followed by seizures 37(50%). Refractory epilepsy was seen in 8(10%) patients, 4(5%) were treated by epileptic surgery. Genetic sequencing was done which lead to diagnosis of various syndromes. Conclusion: This study provides an important data on various presentations of CNS malformations, presenting as epilepsy and development delay and can mimic static encephalopathy. It also emphasizes the importance of imaging for seizures and developmental delay, aiding in diagnosis and genetic counselling.
Keywords: cerebral malformations, lissencephaly, myeolomeningocoele, neural tube defects, cerebellar hypoplasia