Review for 10.1186/s12876-020-01237-8 (2020)

Reviewer ’s report  
 
Title: NEW MUTATION OF THE CERU LOPLASMIN GENE IN THE CASE OF A 
NEUROLOGICALLY ASYMPTOMATIC PATIENT W ITH MICROCYTIC ANAEMIA, 
OBESITY AND SUPPOSED WILSON ’S DISEASE  
 
Version: 0 Date: 21 D ec 2019  
 
Reviewer: Pietro VAJRO  
 
Reviewer's report:  
 
The Authors describe a new mutation of the ceruloplasmin gene in a case of a neurologically 
asymptomatic patient with microcytic anaemia and steatosis of the liver  
 
The MS is interesting mainly due to the ultra -rarity of the disease.  
 
 
It requires:  
 
1. Title: .. and steatosis of the liver … : Authors please reconsider if mentioning steatosis 
of the li ver due to absence of fat in the histological specimen.  
 
2. Extensive editing throughout the MS due to many typos (e.g.: chelatase, diagnose, 
exprimated, transferring, have been performance, ….) is necessary  
 
3. The table should include also transaminase va lues, glucose and BMI at entry and 
during follow -up and possibly a comment on these figures.  
 
4. Authors should discuss the possible role of obesity on ultrasonographic NAFLD of this 
patient and discuss however the difference with the histological results (-- without 
steatosis..) Please read Nobili V,  Levels of serum ceruloplasmin associate with 
pediatric nonalcoholic fatty liver disease. J Pediatr  
 
 
        Gastroenterol Nutr. 2013  
 
5. Values of serum ceruloplasmin should be shown and a differential diagnos is with other 
causes of low ceruloplamin levels should be discussed (e.g. CDG , see Vajro P, 
Orphanet J Rare Dis. 2018)  
 
6. Patient's ocular and diabetes workups should be presented as well  
 
Are the methods appropriate and well described?  
If not, please specify what is required in your comments to the authors.  
 
Yes 
 
Does the work include the neces sary 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 t o assess any statistics in the manus cript or would you recommend an 
additional statistical review?  
If an additional statistical review is recommended, please speci fy what aspects require further 
assessment in your comments to the editors.  
 
Not relevant to t his manuscript  
 
Quality of written English  
Please indicate the quality of language in the manuscript:  
 
Not suitable for publication unless extensively edited  
 
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, f ees, funding, or salary 
from an organisation that may in any way gain or lose financial ly from the 
publication of this manuscript, either now or in the future?  
 
2.  Do you  hold any stocks or shares in an organisation t hat 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 currently 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 
 
I agree to the open peer review policy of the journal. I understan d that my name will be included 
on my report to the authors and, if the manuscript is accepted f or publication, my named report 
including any attachments I upload will be posted on the website along with t he 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 inclu ded in my named report can be in cluded as confidential comments 
to the editors, which will not be published.  
 
I agree to the open peer review policy of the journal