Rett syndrome
- Definition: X-linked disorder with progressive loss of intelligence and cognitive abilities such as language, locomotion, and fine motor skills
A kind of regression, like the one in Ego defenses
Rett for Regress
- The opposite is Infantile hemangioma, which first worsen then improve.
- Etiology: X-linked dominant gene mutation in methyl-CpG binding protein 2 gene (MECP2 gene)
- Neuropathology is consistent with arrested brain development (eg, impaired dendritic maturation, reduced neuromelanin in substantia nigra) rather than death of neurons (ie, neurodegeneration).
- Usually not an inherited gene defect, but rather a sporadic mutation
- Mutation usually occurs in the paternal allele; thus, females are almost exclusively affected
- If affected, male fetuses die in utero or shortly after birth.
- Clinical features
- Normal development until the first symptoms appear, which typically happens at 6–18 months of age
- Symptoms of neurodevelopmental regression, including:
- Loss of motor skills, especially targeted hand movements (affected children show characteristic hand wringing)
- Truncal ataxia, apraxia, choreatic movements
- Intellectual and verbal disability
- Seizures
- Growth failure
- Scoliosis
- Loss of motor skills, especially targeted hand movements (affected children show characteristic hand wringing)