A 1 1/2 year old female child is brought to you with history of delay in developmental milestones. The child was apparently normal till 5 months of age following which the milestones became delayed. Now some of the milestones attained have regressed. On examination the head circumference is less than expected. The child has also got impaired coordination. What is your diagnosis?
High-Yield Explanation
Rett disorder is an X - linked condition. It is characterised by normal prenatal and perinatal period. The problems sta at around 5 months of age when loss of previously acquired purposeful hand skills are lost. There may also be associated stereotypic movements and decreased interest in social activities. Ref: Oxford Handbook of Clinical Specialities, 8th Edition, Page 652