Review for 10.1186/s12876-020-01451-4 (2020)

Reviewer’ s report
Title: Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified
sequence mutations: a case report
Version: 0Date: 05 Mar 2020
Reviewer: Dominic Lenz
Reviewer's report:
In this paper, Weiran Li et al describe the case of a young Chinese girl that experienced fever
triggered episodes of liver failure with complete recovery within the interval. The conventionaldiagnostic work-up did not reveal a causative diagnosis; whole exome sequencing unraveledbiallelic variants in NBAS as the cause.
The manuscript was submitted as a case report and formal matters have been respected. The report
includes two tables and no figures. Quality of English grammar and syntax is not suitable forpublication unless extensively edited; gene names are not always displayed in italic, creatingconfusion.
The addressed content, recurrent acute liver failure due to variants in NBAS, is an important topic
and relevant for the readers, as NBAS-associated disease is relatively frequent cause of this rarecondition. In-line with this, the main message of the manuscript consists in the recommendation ofgenetic testing for NBAS in case of indeterminate recurrent acute liver failure and to useantipyretics to avoid fever which thought to be the trigger in this disease.
However, the actual draft of the manuscript does not consider all published NBAS-associated
disease or ILFS2 cases. Especially, recently published data on NBAS regarding clinicalpresentation of patients is lacking (e.g., Carli et al, Hum Mutat 2019, Staufner et al, Genet Med2019). In consequence of this, table 2 is by far incomplete and the observation of clinical featuresdoes not report on other organ affections prevalent in NBAS-associated disease as affections of theintegument, immune system and musculature. This is of importance as the genotype of thereported patient suggests potential multisystem involvement due to the affection of the β-propeller
and Sec39 domain according to Staufner et al, Genet Med 2019.
The novel aspect consists in reporting novel variants causing a clear ILFS2 phenotype, potentially
exclusively affecting the liver. This is of importance, but the description of the clinicalpresentation should be expanded and the literature review updated. Finally, this case should becompared to the proposed subgroups by Staufner et al, Genet Med 2019 and hence, add to theunderstanding of variable presentation of the disease.
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 necessary controls?
If not, please specify which controls are required in your comments to the authors.
Unable to assessAre 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 what aspects require furtherassessment in your comments to the editors.
Not relevant to this manuscriptQuality of written English
Please indicate the quality of language in the manuscript:
Not suitable for publication unless extensively editedDeclaration of competing interests
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