Rett syndrome notes

Hello friends!

Today we are going to learn about Rett syndrome. 

*Frequency : 1 in 15,000.

*90% of the cases are SPORADIC

*5-10% are X-Linked Dominant, so more common in females. 

(Remember males get only one X chromosome from mother whereas females get X chromosome each from mother and father).

*Mutation in gene : MeCP2.

*Virtually always seen in girls because males usually die in utero or shortly after birth.

*Important finding : Decreased pontine NE and Nigro-striatal Dopamine levels.

Clinical features : 

*At birth : Normal growth and normal head circumference.

*Normal attainment of milestones till 5-6 months of age, later there will be progressive regression of language (both receptive and expressive) and motor milestones.

*It causes Acquired Microcephaly.

*Hallmark : Repetitive hand writing movements with loss of purposeful movements.

*It can cause 5 As:

Apnea (intermittent)

Ataxia

Autistic behaviour

Arrhythmias

Acquired Microcephaly

*In addition to all of these, cyanosis, GTCS can also be seen.

*Staging :

Stage 1 : Onset stage (6-18 months)

Stage 2 : Rapid destructive (1-4 years) - 

Stage 3 : Plateau phase (2-10 years)

Stage 4 : Late motor phase (decreased motor movts) - Scoliosis can occur.

*Imaging : No pathognomonic finding. However, significant reduction on brain weight upto 60-80% is often seen.

*HPE : Decreased synapses, dendritic length and branching.

*Treatment : Supportive.

Hope it will help :)

Madhuri.