In a child of Rett syndrome, all of the following are seen except:
Ans. a. Macrocephaly Microcephaly, not the macrocephaly is seen in Rett syndrome.Rett SyndromeRett syndrome, originally termed as cerebroatrophic hyperammonemiaA neurodevelopmental disorder of the grey matter of the brainExclusively affects femalesCause:Caused by mutations in the gene MECP2 located on the X chromosomeClinical Features:Small hands and feetDeceleration of the rate of head growth (microcephaly)Repetitive stereotyped hand movements, such as wringing and/or repeatedlyUp to 80% have seizuresNo verbal skillsDelayed or absent ability to walkScoliosis, growth failure, and constipation are very common
Macrocephaly
Mental retardation
Abnormal dendritic connections
Seizures