Patient One
Maudie Stillwell arrives at your clinic a very sick little 4-year old girl. She is
seriously undersized and underweight for her age. She also has poor muscle
coordination and show signs of a general neural degeneration. Upon examination you
discover that her liver and spleen are both markedly enlarged. Although neither
parent has any symptoms, her mother reports that two of her sisters (Maudie's aunts)
"failed to thrive" and died early in childhood. Biopsies reveal that cells in multiple
organs of Maudie's body, including her liver, spleen, and lungs seem to be
accumulating excessive amounts of lipids. Your diagnosis is that Maudie suffers
from Niemann-Pick disease, a disorder stemming from a failure of cells to break
down excess lipids.
1. With what organelle might this disorder be associated?