Hydrocephalus & Downsyndrome

Question 1

What is the definition the definition of hydrocephalus?

Answer 1

• accumulation of CSF in the ventricles of the brain, particularly the lateral ventricles, secondary to a compromise in the circulation of the CSF

Question 2

What are the S/S of hydrocephalus?

Answer 2

1. full bulging fontanel spot in infants
2. setting sun sign (the child appears to be looking down because there is white above the iris of the eye)
3. behavioral changes = lethargy and irritability
4. vomiting or change in appetite

Question 3

How is hydrocephalus diagnosed?

Answer 3

1. CT scan and MRI

2. Clinical symptoms

Question 4

What is the treatment for hydrocephalus?

Answer 4

1. surgical insertion of a ventriculoperitoneal (VP) shunt

Question 5

What is Down’s Syndrome?

Answer 5

• a genetic disorder of chromosme 21 = trisomey 21
• 1 in 650 to 800 births; increased incidence as maternal age increase
• can be complete or mosaic

Question 6

What is the etiology of down’s syndrome?

Answer 6

1. spontaneous mutation
2. faulty meiosis
3. translocation = inherited

Question 7

What are the clinical manifestations of down’s syndrome?

Answer 7

1. flat face and nasal bridges
2. short limbs
3. hypotonia
4. epicanthal folds
5. simian line
6. Associated manifestations:
   - increased UTI’s and otitis media (middle ear infection)
   - increased risk of leukemia
   - language and cognitive abnormalities
   - C1-C2 instability (atlantoaxial instability, AAI)

Question 8

How is down’s syndrome diagnosed?

Answer 8

1. amniocentesis
2. findings
3. genetic studies

Question 9

What is the treatment of down’s syndrome?

Answer 9

1. targeted to secondary medical issues
2. help children develop full potential
3. early intervention programs are very important

Question 10

What is the prognosis of down’s syndrome?

Answer 10

1. life expectancy is improving

2. 80% will survive to after 30 years