Title: Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase
deficiency
Version: 3 Date: 16 Mar 2022
Reviewer's report:
This manuscript on Niemann Pick type A presenting as infantile cholestasis is an important
addition to the literature on ASMD, and suggests that treating physicians should add ASMD to
the differential diagnosis of infants who present with this liver manifestation.
The authors indicate that 7 patients underwent liver and bone marrow biopsies.  Although the
presence of foam cells is noted in one of the tables,  it would be valuable to include representative
pathology images of both liver and bone marrow biopsies.  This is valuable data on a rare
disease which should be published.  It would also be valuable to include other features of the
liver biopsies in the table such as degree of fibrosis/cirrhosis, inflammation and necrosis in
each patient biopsy.  There should also be more discussion of the findings in the bone marrow
biopsies.
These has been a recent publication in the literature on a complete Type A autopsy which would
be valuable to include in the discussion and reference list:
Beth L Thurberg.  Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease
type A): Clinicopathologic correlations of a case report. Mol Genet Metab Reports, 2020, Jul
16;24:100626. doi: 10.1016/j.ymgmr.2020.100626. eCollection 2020 Sep.PMID: 32714837
Title: Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase
deficiency
Version: 3 Date: 16 Mar 2022
Reviewer's report:
This manuscript on Niemann Pick type A presenting as infantile cholestasis is an important
addition to the literature on ASMD, and suggests that treating physicians should add ASMD to
the differential diagnosis of infants who present with this liver manifestation.
The authors indicate that 7 patients underwent liver and bone marrow biopsies.  Although the
presence of foam cells is noted in one of the tables,  it would be valuable to include representative
pathology images of both liver and bone marrow biopsies.  This is valuable data on a rare
disease which should be published.  It would also be valuable to include other features of the
liver biopsies in the table such as degree of fibrosis/cirrhosis, inflammation and necrosis in
each patient biopsy.  There should also be more discussion of the findings in the bone marrow
biopsies.
These has been a recent publication in the literature on a complete Type A autopsy which would
be valuable to include in the discussion and reference list:
Beth L Thurberg.  Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease
type A): Clinicopathologic correlations of a case report. Mol Genet Metab Reports, 2020, Jul
16;24:100626. doi: 10.1016/j.ymgmr.2020.100626. eCollection 2020 Sep.PMID: 32714837
Please review this paper.
user
Title: Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase
deficiency
Version: 3 Date: 16 Mar 2022
Reviewer's report:
This manuscript on Niemann Pick type A presenting as infantile cholestasis is an important
addition to the literature on ASMD, and suggests that treating physicians should add ASMD to
the differential diagnosis of infants who present with this liver manifestation.
The authors indicate that 7 patients underwent liver and bone marrow biopsies.  Although the
presence of foam cells is noted in one of the tables,  it would be valuable to include representative
pathology images of both liver and bone marrow biopsies.  This is valuable data on a rare
disease which should be published.  It would also be valuable to include other features of the
liver biopsies in the table such as degree of fibrosis/cirrhosis, inflammation and necrosis in
each patient biopsy.  There should also be more discussion of the findings in the bone marrow
biopsies.
These has been a recent publication in the literature on a complete Type A autopsy which would
be valuable to include in the discussion and reference list:
Beth L Thurberg.  Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease
type A): Clinicopathologic correlations of a case report. Mol Genet Metab Reports, 2020, Jul
16;24:100626. doi: 10.1016/j.ymgmr.2020.100626. eCollection 2020 Sep.PMID: 32714837
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