Rett Syndrome- Clinical Features And Management

A particular kind of neuro-regression syndrome marked by deviant brain development.  Dominant X-linked inheritance mode. One in 5000 to one in 22,000 is the incidence.  Gender: F>>>M  Gene: MeCP2 (methyl CPG binding protein-2) located on chromosome Xq28's long arm.  Methylated cPG islands bind to a certain type of transcription factor (TF), which inhibits transcription.

 MeCP2 gene mutation: This disrupts the Nigrostriatal system, which is the dopaminergic pathway in the basal ganglia, and can cause neuroregression, behavioral abnormalities, and autism spectrum disorders.  Convulsions, as people age, dystonia 

Referred to as RETT syndrome., If men start to exhibit traits similar to Rett's, two things could happen. 47 XXY is the Klinefelter syndrome.
Mutation in the MeCP2 gene.  Duplication of the MECP2 gene in non-syndromic men.

MeCP2 Gene Mutations are Associated With:

• Rett syndrome
• Normal female carriers
• Females with Angelman syndrome
• Males with fatal encephalopathy
• Klinefelter male with Rett syndrome.
• Familial X-linked cognitive impairment

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Clinical Features

Normal development till 1 year of age. Age of onset – 12 months of age.

Early Features

 Language and motor milestones exhibit regression of milestones.
Reduced brain development - Microcephaly acquired  Acquired Microcephaly: a later delay of brain growth, with a normal head circumference at birth and for the first three months of life. 

Congenital microcephaly, or microcephaly at the neonatal stage.
Teratogenic infections are the cause of congenital microcephaly.
Birth alcohol syndrome and birth varicella syndrome.  Ataxia, which causes slight hand tremors.

At 2-3 Years of Age

Hallmark: Conventional gestures of wringing hands.  Frequent strikes to the forehead or face.  A reduction in intentional movement. 

Around 3 Years of Age

Seizures – GTCS, responsive to AEDs. Autism-like features – ASD spectrum.

Others

Poor weight gain or inability to flourish.  Issues with eating,  Scoliosis; Abnormal breathing pattern;  Apnea and cyanosis episodes combined with sigh-like breathing;  Intermittent hyperventilation.

Clinical characteristics often peak between the ages of 5 and 10; subsequent sequelae will continue.  Dystonia: stimulation-based ppt.
Later-life spastic paraparesis, also known as spastic Quadri paraparesis. 

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Pm Studies-Brain Pathology

Abnormal dopaminergic activity in the substantia nigra, the Nigrostriatal pathway, is indicated by decreased pigmentation in this area.  The brain is smaller now.  A reduction in the number of dendritic branches, synapses, and dendritic lengths.  Cardiac arrhythmias were the cause of death.

Treatment

• Supportive Management
• Seizures: Responsive to AEDs.
• Autistic features management.

Atypical RETT Syndrome

Not connected to mutations in the MeCP2 gene.  Involve mutations in the CDKL5 gene, which are distinguished by.  Inborn microcephaly; Developmental arrest;  Severe myoclonic epilepsy in infancy.  There are sporadic other Rett-like characteristics.

Management 

Supportive Treatment

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