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朱伯特综合征：两名患有神经发育迟缓且诊断面临挑战的苏丹姐妹的罕见病例。

Joubert Syndrome: A Rare Case of Two Sudanese Sisters With Neurodevelopmental Delays and Diagnostic Challenges.

作者信息

Ahmed Ahmed Alshafei Elmahi, Ahmed Mehad Mortada BadrAlden, Ibrahim Aisha Gameraldeen Abdalrhim, Aref Arafa Mubarak Abotalib, Saidahmed Thowiba Mohammed Abdalla, Abd Elaziz Osman Elshazali Osman, Neel Zahra Abdalla Ahmed, Alkarar Mohammed Musa Abozaid, Altegani Tarig Mohamed Nourallah, Mohammed Amjed Abdu Ali, Amin Mohammed Hammad Jaber

机构信息

Faculty of Medicine The National Ribat University Khartoum Sudan.

Faculty of Medicine and Health Science Nile Valley University Atbara Sudan.

出版信息

Clin Case Rep. 2025 Jul 30;13(8):e70733. doi: 10.1002/ccr3.70733. eCollection 2025 Aug.

DOI:10.1002/ccr3.70733
PMID:40746772
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12311228/
Abstract

Joubert Syndrome's rarity and diagnostic complexity, especially in Sudan, pose significant challenges in low-resource settings. Sibling cases with neurodevelopmental delays and MRI-confirmed molar tooth sign highlight the urgent need for heightened clinical suspicion, accessible neuroimaging, and genetic counseling to address underdiagnosis in underrepresented populations.

摘要

乔伯特综合征的罕见性和诊断复杂性，尤其是在苏丹，在资源匮乏的环境中构成了重大挑战。患有神经发育迟缓且经MRI证实有磨牙症迹象的同胞病例凸显了迫切需要提高临床怀疑意识、提供可及的神经影像学检查以及遗传咨询，以解决在代表性不足人群中诊断不足的问题。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f7/12311228/3e7174a15af4/CCR3-13-e70733-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f7/12311228/f21db537c0d5/CCR3-13-e70733-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f7/12311228/3e7174a15af4/CCR3-13-e70733-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f7/12311228/f21db537c0d5/CCR3-13-e70733-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f7/12311228/3e7174a15af4/CCR3-13-e70733-g002.jpg

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本文引用的文献

1
Clinical and genetic characteristics of 36 children with Joubert syndrome.36例Joubert综合征患儿的临床和遗传特征
Front Pediatr. 2023 Jul 21;11:1102639. doi: 10.3389/fped.2023.1102639. eCollection 2023.
2
Joubert syndrome: Molecular basis and treatment.杰伯综合征：分子基础与治疗。
J Mother Child. 2023 Feb 22;26(1):118-123. doi: 10.34763/jmotherandchild.20222601.d-22-00034. eCollection 2022 Mar 1.
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Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.
眼伴脑疾病的遗传学基础：在脑与眼的分子病理学中寻找相似性。
Int J Mol Sci. 2022 Aug 26;23(17):9707. doi: 10.3390/ijms23179707.
4
Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic Truncating Variants.一名携带双等位基因截短变异的成年男性患者的乔伯综合征轻度临床表现
Diagnostics (Basel). 2021 Jul 6;11(7):1218. doi: 10.3390/diagnostics11071218.
5
Investigating Primary Cilia during Peripheral Nervous System Formation.研究周围神经系统形成过程中的初级纤毛。
Int J Mol Sci. 2021 Mar 20;22(6):3176. doi: 10.3390/ijms22063176.
6
A case report of Joubert syndrome with renal involvement and seizures in a neonate.一例新生儿伴有肾脏受累及癫痫发作的乔伯特综合征病例报告。
Radiol Case Rep. 2021 Feb 24;16(5):1075-1079. doi: 10.1016/j.radcr.2021.02.031. eCollection 2021 May.
7
Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.伴有C5orf42基因突变的乔伯特综合征的神经影像学表现：一种较轻形式的磨牙征和小脑蚓部发育不全。
J Neurol Sci. 2017 May 15;376:7-12. doi: 10.1016/j.jns.2017.02.065. Epub 2017 Mar 1.
8
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.在单一中心对100例Joubert综合征及相关疾病患者进行前瞻性评估的分子遗传学发现及临床相关性。
Genet Med. 2017 Aug;19(8):875-882. doi: 10.1038/gim.2016.204. Epub 2017 Jan 26.
9
Joubert syndrome in a neonate: case report with literature review.新生儿乔伯特综合征：病例报告并文献复习
Sudan J Paediatr. 2016;16(1):53-7.
10
Mutation spectrum of Joubert syndrome and related disorders among Arabs.阿拉伯人群中Joubert综合征及相关疾病的突变谱
Hum Genome Var. 2014 Nov 6;1:14020. doi: 10.1038/hgv.2014.20. eCollection 2014.