Abstract
REGRESSING DEVELOPMENTAL MILE STONES IN A 3 AND HALF YEAR OLD CHILD: A CASE REPORT

*Dr. Pankaj Kumar Gupta and Dr. Sally John

ABSTRACT

Rett syndrome was described by Professor Andraes Rett in Vienna in 1966 as cerebral atrophy and hyperammonemia. Rett Syndrome is a chromosome X-linked genetic pediatric neurological development disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands. It is also associated with low intelligence and almost exclusively affects females. It is seen mostly after 2-3 years of life. Early diagnosis of such disorders is extremely important along with treatment of patients' problems with love and care to prevent them from further pain and stress. In this case report we describe a 3 year 6 months old girl who was referred from pediatric opd with history of gradual regression in developmental mile stones and learned behaviors like verbal communication (the child could speak in short sentences which regressed to monosyllables and at times incoherent sounds) and use of hands(she could use hands to hold things properly and eat by self without much spillage which was regressed gradually, needing help in feeding and inability to hold any objects without external support. She also had regression in bowel and bladder control. She had repetitive stereotypical wringing and to and fro hand movements with continuous wetting of hands to the extent that she started developing lesions on the dorsum of her right hand. Parents were distressed about the regressing mile stones and behavioral difficulties when they were seen in the Psychiatry OPD with the child.

Keywords: Rett's syndrome, pervasive developmental disorder, developmental disability, learning disability, speech regression, growth retardation.


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