A pregnant woman has a child at home who has been diagnosed with neurofibromatosis 1. She asks the nurse what she should look for in her new baby that would indicate that it also has neurofibromatosis 1

Question

What sign should the nurse instruct the woman to look for in the new baby?
A) Increased urination
B) Projectile vomiting
C) Café-au-lait spots
D) Xanthoma

Answer 1

Ans: C
Feedback:
Physical assessment may provide clues that a particular genetic condition is present in a person and family. Family history assessment may offer initial guidance regarding the particular area for physical assessment. For example, a family history of neurofibromatosis type 1, an inherited condition involving tumors of the central nervous system, would prompt the nurse to carry out a detailed assessment of closely related family members. Skin findings, such as café-au-lait spots, axillary freckling, or tumors of the skin (neurofibromas), would warrant referral for further evaluation, including genetic evaluation and counseling. A family history of familial hypercholesterolemia would alert the nurse to assess family members for symptoms of hyperlipidemias (xanthomas, corneal arcus, abdominal pain of unexplained origin). As another example, increased urination could indicate type 1 diabetes. Projectile vomiting is indicative of pyloric stensosis.