Reviewer ’s report  
 
Title: Infantile -onset inflammatory bowel disease in a patient with Hermansky -Pudlak 
syndrome: a case report  
 
Version: 1 Date: 17 Sep 2018  
 
Reviewer: Keith Benkov  
 
Reviewer's report:  
 
Ishihara and colleagues present a case of a boy with Hermansky -Pudlak  
Syndrome presenting at 6 months of age with diarrhea, fever and weight loss who by 11 months 
was diagnosed with what was labelled Crohn's -like inflammatory bowel disease.   The case was 
well written and of great interest to anyone taking care of children  with  IBD or doing research 
in the area.  
 
Several points that this review thinks should added:  
1. When the colonoscopy was done, was the terminal ileum intubated and what were the 
findings?  
 
2. Was an upper endoscopy done at the time, and if so, what were th e findings?  
 
3. No imaging was mentioned, this should be clarified.  
 
4. Was any imaging done on the child?  
 
5. Most important, in view of the great interest in very early onset IBD, the authors should 
include the specific panel that was done looking for prima ry immunodeficiency and IBD.   
There reference is from 5 years ago and there have multiple gene discoveries in this area.  
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.  
 
Unable to assess  
 
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.  
 
No to all  
 
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: 17 Sep 2018  
 
Reviewer: Keith Benkov  
 
Reviewer's report:  
 
Ishihara and colleagues present a case of a boy with Hermansky -Pudlak  
Syndrome presenting at 6 months of age with diarrhea, fever and weight loss who by 11 months 
was diagnosed with what was labelled Crohn's -like inflammatory bowel disease.   The case was 
well written and of great interest to anyone taking care of children  with  IBD or doing research 
in the area.  
 
Several points that this review thinks should added:  
1. When the colonoscopy was done, was the terminal ileum intubated and what were the 
findings?  
 
2. Was an upper endoscopy done at the time, and if so, what were th e findings?  
 
3. No imaging was mentioned, this should be clarified.  
 
4. Was any imaging done on the child?  
 
5. Most important, in view of the great interest in very early onset IBD, the authors should 
include the specific panel that was done looking for prima ry immunodeficiency and IBD.   
There reference is from 5 years ago and there have multiple gene discoveries in this area.  
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.  
 
Unable to assess  
 
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.  
 
No to all  
 
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: 17 Sep 2018  
 
Reviewer: Keith Benkov  
 
Reviewer's report:  
 
Ishihara and colleagues present a case of a boy with Hermansky -Pudlak  
Syndrome presenting at 6 months of age with diarrhea, fever and weight loss who by 11 months 
was diagnosed with what was labelled Crohn's -like inflammatory bowel disease.   The case was 
well written and of great interest to anyone taking care of children  with  IBD or doing research 
in the area.  
 
Several points that this review thinks should added:  
1. When the colonoscopy was done, was the terminal ileum intubated and what were the 
findings?  
 
2. Was an upper endoscopy done at the time, and if so, what were th e findings?  
 
3. No imaging was mentioned, this should be clarified.  
 
4. Was any imaging done on the child?  
 
5. Most important, in view of the great interest in very early onset IBD, the authors should 
include the specific panel that was done looking for prima ry immunodeficiency and IBD.   
There reference is from 5 years ago and there have multiple gene discoveries in this area.  
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.  
 
Unable to assess  
 
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.  
 
No to all  
 
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