All are true about Niemann- Pick disease except -

NEET PG
#1

All are true about Niemann- Pick disease
except -
a) Due to deficiency of sphingomyelinase
b) CNS symptoms in type A
c) Histiocytes showing PAS positive inclusions and Type B is less
severe
d) None

Correct Answer - D
Ans. is D. None [Ref Clinical biochemistry 4th/e p. 786]
Niemann-Pick disease is an autosomal recessive `lysosomal storage
disease due to deficiency of sphingomyelinase.
Characteristic histopathological feature is histiocytes showing PAS
positive diastase resistant inclusions which on microscopy shows
concentric or parrallel lamellar arrangement.
Clinical cases are divided into -

  1. Type A: These are more common with more severe deficiency of
    sphingomyelinase. There is visceral and CNS involvement.
    Symptoms may present since birth and death usually occurs before
    the age of 4 years.
  2. Type B : There is less severe deficiency of sphingomyelinase.
    Patient’s have only visceral involvement but no CNS involvement.
    Patients present by the age of 3-4 years with organomegaly and
    may remain reasonably healthy.