Makindo Medical Notes.com

Early development is normal until 1-2 years when starts developing severe problems with language and communication, learning, coordination, and other brain functions.

About

• Neuro developmental disorder affecting grey matter
• Occurs almost exclusively in girls. 1 in 8,500 females.
• It can occur rarely in males

Aetiology

• Many of these cases result from new mutations in the MECP2 gene.

Clinical

• Initially normal development up to 18 months
• Progressive ataxia, hypotonia, chorea
• Autistic behaviour, screaming, speech disorder
• Palpitations/syncope from arrhythmias
• Epilepsy, GORD, Osteoporosis

Stages

• Early signs: low muscle tone (hypotonia), difficulty feeding, unusual, repetitive hand movements or jerky limb movements, delay with development of speech, mobility problems, such as problems sitting, crawling and walking, lack of interest in toys
• Regression: loss of abilities. Age 1-4. Severe problems with communication and language, memory, hand use, mobility, coordination and other brain functions. May mimic autism spectrum disorder. Wringing, washing, clapping or tapping periods of distress, irritability and sometimes screaming for no obvious reason social withdrawal? a loss of interest in people and avoidance of eye contact unsteadiness and awkwardness when walking problems sleeping slowing of head growth difficulty eating, chewing or swallowing, and sometimes constipation that may cause tummy aches. Later on during regression, the child may experience periods of rapid breathing (hyperventilation) or slow breathing, including breath-holding. They may also swallow air which can lead to abdominal bloating.
• Plateau: seizures, which become more common. Abnormal breathing. teeth grinding, arrhythmias
• Deterioration in movement: Lasts years or even decades. Scoliosis. Muscle weakness, spasticity, loss of ability to walk, talk, Seizures may settle.

Differentials

Investigations

• CT/MRI Brain
• Genetic testing for MECP2 gene

Management

• Supportive and manage complications
• Anticonvulsants as needed
• Multidisciplinary care

References

• Rett syndrome NHS

Revisions