Developmental Regression Flashcards
What is the significance of developmental regression?
It is always pathological.
What is the likely disease: 5yo boy has a gradual onset of visual problems and seizures. This progresses to a change in behaviour, speech and a regression in learning, eventually leading to dementia and early death.
Batten’s disease.
Symptoms occur between 4-10yo.
Fatal autosomal recessive neurodegenerative disease.
What is the likely disease: a 9 month old girl who begins to miss developmental language and fine motor milestones. Loses fine motor ability and develops a characteristic handwringing motion.
Retts Syndrome
Only in girls
X linked disorder however it usually occurs as a sporadic de novo mutation.
What is the likely disease: progressive loss of movement, speech, vision, hearing and behaviour.
Leukodystrophies
A group of conditions characterised by dysfunction of the white matter of the brain due to incorrect growth of the myelin sheath.
What is the likely disease: a child with hepatitis who has had declining school performance in secondary school, suffered from low mood and a change in behaviour?
Wilson’s disease
A rare autosomal recessive disorder which causes copper to accumulate in the liver, brain, kidney and cornea.
What is the likely diagnosis: a 10 year old boy that moved to England when he was 4 has a gradual psychoneurological deterioration. On MRI there is no signs of SOL.
SSPE (subacute sclerosis panencephalitis)
It is a rare, chronic, progressive encephalitis caused by a persistent infection of immune resistant measles virus. The history is a primary infection before the age of 2 and then 6-15 asymptomatic years before gradual psychoneurological deterioration.
