A Retrospective Case Series of Indian Children With Homozygous RNASEH2B Mutations Presenting As ‘Cerebral Palsy’ Mimic

Methodology: This is a retrospective case note review. We present a case series of 6 patients from 5 different families from the West and South of India. All patients had an MRI Brain as part of the investigations. The current age of these patients range between 1 year-15 years. A final diagnosis was achieved on genetic analysis using NGS. All of the patients were homozygous for the mutation c.529G>A.

Results/ Findings : The clinical features were of a normal head circumference, spasticity predominantly in the lower limbs, startle and exaggerated reflexes. There were no other clinical features such as chill blains etc described with other mutations in Aicardi Goutieres Syndrome. The MRI features were of non specific bilateral white matter hyperintensities which were non progressive in nature. There was no evidence of calcification. The clinical outcome for all the patients was of delayed achievement of motor milestones. The eldest patient was ambulant with support. The patients had a stable clinical course. As a result the initial clinical diagnosis was of cerebral palsy. The indicators for a alternative diagnosis were the lack of a history of neonatal admission or illness, the MRI changes not being suggestive of brain injury and in one family the sibling presenting with the same clinical features.

Conclusion: A homozygous mutation c.529G>A in the RNASEH2B gene leads to a spastic cerebral palsy like presentation in children. This mutation should be tested for in children presenting in infancy with the MRI features.
Keywords: Cerebral Palsy Mimic, RNASEH2B, Aicardi Goutieres Syndrome