Case report on Cerebrotropic Hyperammonia with Autism Spectrum Disorder (RETT)

Abstract

Background: Rett syndrome is a rare genetic neurological and developmental disorder that causes progressive mobility and speech difficulties as the brain grows abnormally. The disease has the greatest impact on young women. Rett syndrome (RTT) is a neurodevelopmental disorder characterised by a delay of spoken language and the development of discrete hand stereotypies. It affects about one in every 10,000 live female births. Symptoms such as loss of learnt intentional hand skills, autistic behaviours, motor dysfunctions, seizure disorders, and gait abnormalities have all been used to make clinical diagnosis.

Diagnostic Evaluation: A physical exam and thorough information about the child's growth and medical history are used to identify the conditions. A significant component of a Rett syndrome diagnosis is the lack of normal hand     function. Speech is being suppressed.

Therapeutic Intervention:  Tab. Carbamazepine 100mg BD, Tab Clonazepam 0.5 mg Sos, Tab phenobarbital 5mg OD, Tab topiramate 25mg TDS. 

Outcome: A physical exam and thorough information about the child's growth and medical history are used to identify the condition. A significant component of a Rett syndrome diagnosis is the lack of normal hand     function.  Speech is vanishing.

Conclusion:   The patient has been admitted to AVBRH's Pediatric department, where she will receive ongoing medical and nursing treatment. His health is stable and being monitored.