West syndrome is an epileptic encephalopathy characterized by epileptic spasms, psychomotor retardation and hypsarrhythmia/variants on electroencephalography (EEG). It often leads to difficult-to-treat epilepsy.

We conducted a single-center, chart-review based retrospective study at a tertiary institute in India from January 2011 to September 2020. We collected and analyzed data related to demographic and clinical features, comorbidities and treatment strategies among children diagnosed to have West syndrome with medically refractory epilepsy. 

We analyzed records of 268 children with West syndrome (79.1% boys), 5 with concomitant tuberous sclerosis (TS). The median (interquartile range [IQR]) at presentation and onset was 13.8 (9.1-24) months and 5.0 (IQR 2-8.8) months respectively. The most frequent comorbidities were cerebral palsy (58.9%), microcephaly (54.8%), visual impairment (47.5%), hearing (25.7%) and feeding issues (16.4%). All children had developmental delay. Five children had comorbid TS. Predominant causes included: perinatal asphyxia (48.9%), neonatal hypoglycemia (21.6%), neonatal sepsis (10.4%) and postnatal meningitis (7.5%). Neuroimaging was abnormal in 78.3% children. Most (81.7%) children were treated with oral prednisolone as the only hormonal treatment, and the remaining with ACTH+/- prednisolone. Median (range) antiseizure medications added to hormonal therapy were 2 (1-7). Other treatment options used included: pyridoxine (74%) and modified Atkins diet (5 children).

This study highlights the profile of children with drug refractory epilepsy with West syndrome from a low- and middle-income country. Several features which differed from children from high-incomes countries included older age at presentation, the dominance of perinatal adverse events as etiological factors, and frequent comorbidities.