When handwashing is not enough: a case of Rett Syndrome
Publication Date
2011
Document Type
Research
Abstract
Rett Syndrome is an X-linked dominant neurodevelopmental disorder caused by a mutation in the MECP2. This is a case of an 8 year old female who consulted with a developmental pediatrician due to generalized tonic clonic seizures. On further history and examination, the patient had a normal pre- and post natal history. She reached her developmental milestones on time until 6 months of age when she started to lose previously acquired skills. On physical examination, the patient presented with stereotypical "handwashing" movements and tip toe walking. Her head was microcephalic and developmental age was at 9 months old. She was then referred to a pediatric neurologist who started the patient with anti-convulsants. EEG and MRI were also requested. Three month after initial examination, the patient had decreased seizure episodes but loss her ambulatory skills, a sign of further deterioration in Rett syndrome. Currently, Rett syndrome affects 1:10,000 girls and is the 2nd most common cause of severe mental retardation in girls. It is a debilitating diseases that requires multidisciplinary approach among health care practitioners and caretakers.
APA Citation
de Peralta, Addah S., "When handwashing is not enough: a case of Rett Syndrome" (2011). Resident Research. 359.
https://greenprints.dlshsi.edu.ph/resident-research/359