Reviewer ’s report  
 
Title: Infantile -onset inflammatory bowel disease in a patient with Hermansky -Pudlak 
syndrome: a case report  
 
Version: 1 Date: 01 Nov 2018  
 
Reviewer: Bernadette Gochuico  
 
Reviewer's report:  
 
Ishihara, e t al. report a case of an infant with Hermansky -Pudlak syndrome (HPS) and 
inflammatory bowel disease, and genotyping identified previously reported compound 
heterozygous variants in HPS1. The authors are commended for their efforts to report this case 
with a rare disease. The patient's very young age at diagnosis and clinical response to therapy are 
of interest.   
 
Comments:  
1. In the abstract (line 43), the authors state that the patient "was diagnosed with Crohn's -like 
inflammatory bowel disease at 11 mont hs." Information should be added to the abstract to 
describe the basis for establishing this diagnosis.  
 
2. The authors describe the endoscopic biopsy findings (lines 87 -88). The report would be 
improved by adding this description to the abstract and showin g the histopathologic images 
in a figure.  
 
3. The authors state in the Discussion (lines 111 -112), "IBD is more common in HPS -1, -4, and 
-6;" but do not indicate what it is more common than. Perhaps the authors should consider 
revising the statement to "IBD  is reported in patients with HPS -1, -4, and -6; …"  
 
4. Genetic analysis is a useful diagnostic modality for many inherited disorders, as exemplified 
by this case. In this case, clinical features (e.g., oculocutaneous albinism with nystagmus) 
are consisten t with an underlying diagnosis of HPS. This report would be strengthened by 
the addition of a short discussion of the differential diagnosis of infantile -onset IBD, and 
clinical features that aid in diagnosing specific etiologies of infantile -onset IBD.  
Are the methods appropriate and well described?  
If not, please specify what is req uired in your comments to the authors.  
 
Yes 
 
Does the work include the necessary controls?  
If not, please specify which controls are required in your comments to the authors.  
 
Unable to assess  
 
Are the conclusions drawn adequately supported by the data shown?  
If not, please explain in your comments to the authors.  
 
Yes 
 
Are you able to assess any statistics in the manuscript or would you recommend an  
additional statistical review?  
If an additional statistical review is recommended, please specify wha t aspects require further  
assessment in your comments to the editors.  
 
Not relevant to this manuscript  
 
Quality of written English  
Please indicate the quality of language in the manuscript:  
 
Acceptable  
 
Declaration of competing interests  
Please complete a declaration of competing interests, considering the following questions:  
 
1. Have you in the past five years received reimbursements, fees, funding, or salary from an  
organisation that may in any way gain or lose financially from the publi cation of this  
manuscript, either now or in the future?  
 
2. Do you hold any stocks or shares in an organisation that may in any way gain or lose  
financially from the publication of this manuscript, either now or in the future?  
 
3. Do you hold or are you curr ently applying for any patents relating to the content of the  
manuscript?  
 
4. Have you received reimbursements, fees, funding, or salary from an organization that 
holds  or has applied for patents relating to the content of the manuscript?  
 
5. Do you have any  other financial competing interests?  
 
6. Do you have any non -financial competing interests in relation to this paper?  
 
If you can answer no to all of the above, write 'I declare that I have no competing interests' 
below.  If your reply is yes to any, please give details below.  
 
I declare that I have no competing interests.  
 
I agree to the open peer review policy of the journal. I understand that my name will be included  
on my report to the authors and, if the manuscript is accepted for publication, my named report  
including any attachments I uplo ad will be posted on the website along with the authors'  
responses. I agree for my report to be made available under an Open Access Creative Commons  
CC-BY license ( http://creativecommons.org/licenses/by/4.0/ ). I understand that any comments  
which I do not wish to be included in my named report can be included as confidential comments  
to the editors, which will not be published.  
 
I agree to the open peer review policy of the journal  
Reviewer ’s report  
 
Title: Infantile -onset inflammatory bowel disease in a patient with Hermansky -Pudlak 
syndrome: a case report  
 
Version: 1 Date: 01 Nov 2018  
 
Reviewer: Bernadette Gochuico  
 
Reviewer's report:  
 
Ishihara, e t al. report a case of an infant with Hermansky -Pudlak syndrome (HPS) and 
inflammatory bowel disease, and genotyping identified previously reported compound 
heterozygous variants in HPS1. The authors are commended for their efforts to report this case 
with a rare disease. The patient's very young age at diagnosis and clinical response to therapy are 
of interest.   
 
Comments:  
1. In the abstract (line 43), the authors state that the patient "was diagnosed with Crohn's -like 
inflammatory bowel disease at 11 mont hs." Information should be added to the abstract to 
describe the basis for establishing this diagnosis.  
 
2. The authors describe the endoscopic biopsy findings (lines 87 -88). The report would be 
improved by adding this description to the abstract and showin g the histopathologic images 
in a figure.  
 
3. The authors state in the Discussion (lines 111 -112), "IBD is more common in HPS -1, -4, and 
-6;" but do not indicate what it is more common than. Perhaps the authors should consider 
revising the statement to "IBD  is reported in patients with HPS -1, -4, and -6; …"  
 
4. Genetic analysis is a useful diagnostic modality for many inherited disorders, as exemplified 
by this case. In this case, clinical features (e.g., oculocutaneous albinism with nystagmus) 
are consisten t with an underlying diagnosis of HPS. This report would be strengthened by 
the addition of a short discussion of the differential diagnosis of infantile -onset IBD, and 
clinical features that aid in diagnosing specific etiologies of infantile -onset IBD.  
Are the methods appropriate and well described?  
If not, please specify what is req uired in your comments to the authors.  
 
Yes 
 
Does the work include the necessary controls?  
If not, please specify which controls are required in your comments to the authors.  
 
Unable to assess  
 
Are the conclusions drawn adequately supported by the data shown?  
If not, please explain in your comments to the authors.  
 
Yes 
 
Are you able to assess any statistics in the manuscript or would you recommend an  
additional statistical review?  
If an additional statistical review is recommended, please specify wha t aspects require further  
assessment in your comments to the editors.  
 
Not relevant to this manuscript  
 
Quality of written English  
Please indicate the quality of language in the manuscript:  
 
Acceptable  
 
Declaration of competing interests  
Please complete a declaration of competing interests, considering the following questions:  
 
1. Have you in the past five years received reimbursements, fees, funding, or salary from an  
organisation that may in any way gain or lose financially from the publi cation of this  
manuscript, either now or in the future?  
 
2. Do you hold any stocks or shares in an organisation that may in any way gain or lose  
financially from the publication of this manuscript, either now or in the future?  
 
3. Do you hold or are you curr ently applying for any patents relating to the content of the  
manuscript?  
 
4. Have you received reimbursements, fees, funding, or salary from an organization that 
holds  or has applied for patents relating to the content of the manuscript?  
 
5. Do you have any  other financial competing interests?  
 
6. Do you have any non -financial competing interests in relation to this paper?  
 
If you can answer no to all of the above, write 'I declare that I have no competing interests' 
below.  If your reply is yes to any, please give details below.  
 
I declare that I have no competing interests.  
 
I agree to the open peer review policy of the journal. I understand that my name will be included  
on my report to the authors and, if the manuscript is accepted for publication, my named report  
including any attachments I uplo ad will be posted on the website along with the authors'  
responses. I agree for my report to be made available under an Open Access Creative Commons  
CC-BY license ( http://creativecommons.org/licenses/by/4.0/ ). I understand that any comments  
which I do not wish to be included in my named report can be included as confidential comments  
to the editors, which will not be published.  
 
I agree to the open peer review policy of the journal  
Please review this paper.
user
Reviewer ’s report  
 
Title: Infantile -onset inflammatory bowel disease in a patient with Hermansky -Pudlak 
syndrome: a case report  
 
Version: 1 Date: 01 Nov 2018  
 
Reviewer: Bernadette Gochuico  
 
Reviewer's report:  
 
Ishihara, e t al. report a case of an infant with Hermansky -Pudlak syndrome (HPS) and 
inflammatory bowel disease, and genotyping identified previously reported compound 
heterozygous variants in HPS1. The authors are commended for their efforts to report this case 
with a rare disease. The patient's very young age at diagnosis and clinical response to therapy are 
of interest.   
 
Comments:  
1. In the abstract (line 43), the authors state that the patient "was diagnosed with Crohn's -like 
inflammatory bowel disease at 11 mont hs." Information should be added to the abstract to 
describe the basis for establishing this diagnosis.  
 
2. The authors describe the endoscopic biopsy findings (lines 87 -88). The report would be 
improved by adding this description to the abstract and showin g the histopathologic images 
in a figure.  
 
3. The authors state in the Discussion (lines 111 -112), "IBD is more common in HPS -1, -4, and 
-6;" but do not indicate what it is more common than. Perhaps the authors should consider 
revising the statement to "IBD  is reported in patients with HPS -1, -4, and -6; …"  
 
4. Genetic analysis is a useful diagnostic modality for many inherited disorders, as exemplified 
by this case. In this case, clinical features (e.g., oculocutaneous albinism with nystagmus) 
are consisten t with an underlying diagnosis of HPS. This report would be strengthened by 
the addition of a short discussion of the differential diagnosis of infantile -onset IBD, and 
clinical features that aid in diagnosing specific etiologies of infantile -onset IBD.  
Are the methods appropriate and well described?  
If not, please specify what is req uired in your comments to the authors.  
 
Yes 
 
Does the work include the necessary controls?  
If not, please specify which controls are required in your comments to the authors.  
 
Unable to assess  
 
Are the conclusions drawn adequately supported by the data shown?  
If not, please explain in your comments to the authors.  
 
Yes 
 
Are you able to assess any statistics in the manuscript or would you recommend an  
additional statistical review?  
If an additional statistical review is recommended, please specify wha t aspects require further  
assessment in your comments to the editors.  
 
Not relevant to this manuscript  
 
Quality of written English  
Please indicate the quality of language in the manuscript:  
 
Acceptable  
 
Declaration of competing interests  
Please complete a declaration of competing interests, considering the following questions:  
 
1. Have you in the past five years received reimbursements, fees, funding, or salary from an  
organisation that may in any way gain or lose financially from the publi cation of this  
manuscript, either now or in the future?  
 
2. Do you hold any stocks or shares in an organisation that may in any way gain or lose  
financially from the publication of this manuscript, either now or in the future?  
 
3. Do you hold or are you curr ently applying for any patents relating to the content of the  
manuscript?  
 
4. Have you received reimbursements, fees, funding, or salary from an organization that 
holds  or has applied for patents relating to the content of the manuscript?  
 
5. Do you have any  other financial competing interests?  
 
6. Do you have any non -financial competing interests in relation to this paper?  
 
If you can answer no to all of the above, write 'I declare that I have no competing interests' 
below.  If your reply is yes to any, please give details below.  
 
I declare that I have no competing interests.  
 
I agree to the open peer review policy of the journal. I understand that my name will be included  
on my report to the authors and, if the manuscript is accepted for publication, my named report  
including any attachments I uplo ad will be posted on the website along with the authors'  
responses. I agree for my report to be made available under an Open Access Creative Commons  
CC-BY license ( http://creativecommons.org/licenses/by/4.0/ ). I understand that any comments  
which I do not wish to be included in my named report can be included as confidential comments  
to the editors, which will not be published.  
 
I agree to the open peer review policy of the journal  
assistant