A 18 months-old female infant is brought to the ER.The infant's mother did not recieve routine prenatal care.The infant has always been fussy.PE:distressed infant who does not verbelize.Her abdomen is tender and enlargement of both spleen and liver are present.Ophthalmoscopic examination fails to reveal cherry-red spots.After a brief hospital course the infant dies and autopsy is performed.Neural tissue shows parallel striations of electron dense material within lysosomes.A defect in which of the following was most likely present in this infant?
A.Golgi-associated phospate transfer to mannose
B.Degradation of ganglioside GM2
C.Degradation of glucocerebrosides
D.Degradation of Sphingomyelin
E.Synthesis of gangliosides
yikes.
I would go with EE.
I will try to change my answer. I would go with CC. Needed to google those cells because knew them as crumpled tissue paper. I hope I am making a right choice
can we have N-P dz without famous red cherry macula??
The answer is D..
Niemann pick disease is characterized with Hepatosplenomegaly,neurologic involvement...failure to crawl,sit or walk independently,and mental retardation
It can be seen with or without Cherry-red spots
A...I-cell disease
B...Tay-sachs diseae...HexoseaminidaseA defect,progressive neurodegeneration,**No hepatosplenomegaly***.it will present with cherry-red spots,(but is not also very specific)
C...Gaucher disease.....crumpled tissue paper....Beta -glucocerebrosidase.,aseptic necrosis of femur,bone pain,fractures,infarction along with Hepatosplenomegaly
E...it is a distractor
thank you, Maryam. I somehow always thought that cherry red macula would be present in both, but hepatomegaly in N-P disease(that's how i differentiate between them). Gaucher disease is also present with hepatosplenomegaly. THat's why I decided to look up the Gaucher's cells since I thought maybe they have striations.
Both Tay-Sach's and Nimmen pick dis.may present with Cherry-red spots ,but they are not specific to either disease.....Some children with the disease have a "cherry-red spot" in the retina of the eye.
You are very welcome