99 下列何病症是早產兒出生數日內特有的腦部病變？
(A)玻璃質膜病（Hyaline membrane disease）
(B)核黃疸（Kernicterus）
(C) Hirschsprung 氏病
(D) Pick 氏病

cross section of brainstem from kid – what is the cause of color change?  Its yellowish – due to kernicterus – prob from a baby that had Rh incompatibility.  Remember, it’s an unconjugated hyperbilirubinemia b/c it’s a hemolytic anemia  and lipid soluble; liver cannot syn it; goes to brain and is very toxic leading to severe debilitating dz or death.

Peristalsis problem – problem with relaxation of the LES, therefore it is in spasm all the time.  Why? If you bx that area, this means that the ganglion cells are missing.  What dz does this remind you of? Hirschsprung dz.  What is in those ganglion cells? Vasointestinal peptide (VIP).  What is its function? To relax the LES. So, when you destroy those ganglionic cells, not only do you destroy the movement of the lower esophagus, but you also reduce VIP levels.   So, you have  constant constriction of the LES, leading to bird beak.  Proximal portion is dilated.  

Lysosomal storage dz’s

Two different cells that they like to ask questions about.  

1.  Gaucher dz: there is a macrophage with a crinkled paper like appearance in the cytoplasm.  There are lysosomes filled with glucocerebroside, therefore pt has Gaucher dz.  It’s an auto recessive dz with a missing glucocerebroside.  

2.  Niemann-Pick dz: bubbly cytoplasm, severe mental retardation, buildup of sphingomyelin in the lysosomes, therefore the pt has Niemann-Pick dz, missing sphingomyelinase.

3.  Pompe’s; only glycogen storage dz that is lysosomal b/c they are missing an enzyme to break glycogen down in the lysosomes.  How does pt die? Die from cardiac failure b/c excess deposition of normal glycogen in the heart. 

Summary: bubbly cytoplasm = Niemann-Pick dz; crinkled paper = guacher’s, both are lysosomal storage dz