Developmental regression

Question 1

Batten’s disease

Answer 1

• mutation in CLN3 gene at gene locus 16p12.1
• lysosomal stroage disorders
• autosomal recessive
• very rare
• onset: 5-10 years
• rapid deterioration of vision and a slower, but progressive deterioration of intellect. Seizures and psychosis develop later. There may be features of Parkinson’s disease. In some cases, the early signs are subtle, taking the form of personality and behavioural changes, slow learning, clumsiness, or stumbling.

Question 2

Retts syndrome

Answer 2

see genetics and syndrome mm

Question 3

Leukodystrophies

Answer 3

• group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves
• Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain.
• Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.
• begin shortly after birth, but others develop later in childhood or even in adulthood
• problems with movement, vision, hearing, balance, ability to eat, memory, behavior, and thought

Question 4

Wilson’s disease

Answer 4

• accumulation of copper
• causes changes in behaviour
• involuntary movements
• neurological symptoms
  
  • symmetrical tremor, in about half of patients
  • tremor is variable and may be predominantly resting, postural or kinetic.
  • difficulty speaking, excessive salivation, ataxia, mask-like facies, clumsiness with the hands and personality changes. Some of these features are suggestive of Parkinson’s disease
  • choreiform movements that can be accompanied by gait disturbances, dysarthria and pseudobulbar palsy
• hepatic symptoms
  
  • Acute liver failure
  • chronic hepatitis and cirrhosis
  • Severe chronic liver disease with small, shrunken liver, splenomegaly and ascites.
  • Fulminant hepatic failure ± haemolytic anaemia.

Question 5

SSPE

Answer 5

• subacute sclerosing pancreatitis
• DAWSON DISEASE/ ENCEPHALITIS
• chronic form of progressive brain inflammation which is caused by persistent measles virus infection
• characterised by a history of primary measles infection usually before the age of 2 years, followed by several asymptomatic years (6–15 on average), and then gradual, progressive psychoneurological deterioration, consisting of personality change, seizures, myoclonus, ataxia, photosensitivity, ocular abnormalities, spasticity, and coma.