In a child of Rett syndrome, all of the following are seen except:
Macrocephaly
Mental retardation
Abnormal dendritic connections
Seizures
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