West syndrome: clinic etiological profile, and response to treatment in Western India

Background: Information on the profile of infants with West syndrome in developing countries is limited. This study was done to determine clinico-etiological profile and clinical response of infantile spasms to various medications in children with west syndrome in a developing country.Methods: It was a retrospective cohort study from January 2017-january 2020 done in a tertiary care hospital in western India. Records of 39 children with west syndrome who visited this pediatric neurology division during study period were analysed. 6 were excluded in view of incomplete data. Detailed history, examination, investigations and medications given were noted. Follow up records were assessed to look for long term control of spasms, relapse rates after cessation, or progression to other seizure types.Results: Mean age at onset of infantile spasms was found to be 8.12 months (1 - 36 months).' Mean lag time to treatment was 5.35 months. Etiology was found in 69.7% children with perinatal causes being most common. With oral prednisolone, 54.5% had complete cessation of spasms, and with ACTH also 54.5% had complete spasm cessation. Favourable clinical response at 6 months follow up was found in 8 (47.05%) of the 17 children. Surprisingly, lag time (p=0.381) and symptomatic etiology (p=1.00) did not have any significant impact on outcome.Conclusions: This study highlights the developing country perspective of west syndrome. Increased lag time, different etiological profile and poor outcome are the challenges. High dose prednisolone is a good first line alternative treatment option in resource poor settings.

Rett syndrome: a neurodevelopmental disorder

Rett Syndrome is a rare genetic disorder caused by a mutation on the MECP2 gene on the X chromosome. It classically presents with neuroregression, loss of purposeful hand use, stereotypical involuntary hand wringing movements, an ataxic gait and acquired microcephaly with a large proportion of patients developing seizures. The authors present the case of a 3.5 year old girl with severe global developmental delay and regression, loss of purposeful hand use and an ataxic gait for 2 years and seizures since 5 days along with microcephaly with involuntary hand movements but no classic wringing movements with no significant findings on MRI and EEG and diagnosed with Rett Syndrome on the basis of genetic testing.