Chapter 14
opening is small and there is no associated protrusion of structures
Spina bifida occulta
it is a defect in the metabolism of branched- chain amino acid.
it results in acidosis, cerebral degeneration and death w/ in 2 weeks if not tx
maple syrup urine disease
May have tuft of hair, dimple, lipoma, or discoloration at the site.
tx is not needed unless neuromuscular symptoms appear
spina bifida occulta
what are the manifestations of maple syrup urine disease
urine, sweat and cerumen (earwax ) will smell sweet or smell like maple syrup.
what is meningocele
meningo- membrane cele- tumor
contains portion of the membranes and CSF.
size varies from a walnut to the size of newborn's head
What is galactosemia
body is not able to use carbohydrates galactose and lactose
What is the more serious profusion of the membranes and spinal cord that goes through the opening
may have paralysis of the legs and poor control of bowel and bladder function
meningomyelocele