Wu JL, Li XL, Chen SM, Lan XP, Chen JJ, Li XY, Wang W. A three-year clinical investigation of a Chinese child with craniometaphyseal dysplasia caused by a mutated ANKH gene. World J Clin Cases 2021; 9(8): 1853-1862 [PMID: 33748234 DOI: 10.12998/wjcc.v9.i8.1853]
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Jia-Li Wu, Shu-Mei Chen, Xiao-Yan Li, Department of Otolaryngology and Head and Neck Surgery, Shanghai Children’s Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200062, China
Xiao-Li Li, Department of Radiation Oncology, Longhua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai 200032, China
Xiao-Ping Lan, Molecular Diagnostic Laboratory, Shanghai Children’s Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200062, China
Jin-Jin Chen, Department of Child Healthcare, Shanghai Children’s Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200062, China
Wei Wang, Shanghai AhCare Consulting, Shanghai 20120, China
Author contributions: Wu JL and Li XY were the patient’s otolaryngologists, reviewed the literature and contributed to manuscript drafting; Li XL was the patient’s radiologist, performed the patient’s radiography and interpreted the image findings at the Shanghai Children’s Hospital; Chen SM reviewed the literature and contributed to the follow-up of the patient; Lan XP performed the genetic analysis and database search; Chen JJ was the pediatrician, reviewed the case and followed up the patient; Wang W was the clinical geneticist, responsible for the analysis and interpretation of the gene testing results; Li XY and Wang W were responsible for the revision of the manuscript for important intellectual content and approval of the manuscript; Li XY and Wang W are co-corresponding authors; all authors issued final approval for the submission of this article.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All authors declare no conflict of interests.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Received: August 12, 2020 Peer-review started: August 12, 2020 First decision: December 8, 2020 Revised: December 31, 2020 Accepted: January 23, 2021 Article in press: January 23, 2021 Published online: March 16, 2021 Processing time: 204 Days and 17.8 Hours
Core Tip
Core Tip: Craniometaphyseal dysplasia is a rare genetic disorder. It has been found to be caused by mutations in the ANKH gene with an autosomal dominant inheritance pattern. If untreated, hyperostosis and sclerosis of the skull may lead to cranial nerve compressions resulting in deafness, blindness and facial palsy. Surgical interventions would usually be needed in severe cases such as these. We herein report the first Chinese case with heterozygous mutation of p.Phe377 deletion (c.1129_1131del) on the ANKH gene. We investigated the clinical changes in this patient who underwent nutritional intervention between 3 and 33 mo. Biochemical alterations were significantly changed after dietary intervention. Phenotypic manifestations were markedly alleviated. A low-calcium diet may help slow the clinical course in children and improve the quality of life before the necessary surgery. Further large scale studies are needed to establish the appropriate timing of nutritional and surgical interventions.
