Review for 10.1186/s12876-021-01749-x (2021)

Reviewer’s report
Title: 
Successful Treatment of Infantile Oxysterol 7
α
-hydroxylase Deficiency
with Oral Chenodeoxycholic Acid
Version: 
0 
Date: 
20 Dec 2020
Reviewer's report:
This case report described a sibling pair: one index case diagnosed with
oxysterol 7a hydroxylase deficiency successfully treated with oral
chenodeoxycholic acid, and one elder brother later diagnosed with spastic
paraplegia type 5 (SPG5). Successful oral chenodeoxycholic acid treatment for
oxysterol 7a hydroxylase deficiency with recovery of liver function has been
reported, which is not a new finding. The novelty of this report is that the
description of this rare disease, and the two siblings harboring the same mutation
had different phenotype presentation.
1. Authors may add the follow-up data of bile acid analysis (normalization of
bile acid profiles) in Table 1 or additional Table.
2. Figure 1. Suggest to show the pedigree, phenotype, and genotype
presentations of parents and siblings.
3. Figure 3. Brain MR. Although the perivascular space can be visualized, it is
not sufficient for image evidence for SPG5. Therefore, the diagnosis of SPG5 in
the elder brother is by neurological symptoms. Suggest to describe neutrally the
findings of the elder sibling, stating the emerging neurological symptoms that
deserves close follow-up. 
4. Page 4, line 17-19. "Homozygous mutations were identified in him, …. ". This
case should be compound heterozygous, as described in the abstract.
5. Discussion can be shortened and focused, especially descriptions of previous
reports, and the parts related to SPG5.
6. Suggest to delete Table 2, which is not directly related to this case report.
Previously reported cases in early years had poor prognosis and requires liver
transplantation. More and more recent cases using CDCA have been reported to
have good prognosis without transplantation. 
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