Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report.

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY
Balkan Journal of Medical Genetics Pub Date : 2024-03-12 eCollection Date: 2023-12-01 DOI:10.2478/bjmg-2023-0018
A Lamzouri, A El Rherbi, I Ratbi, F Z Laarabi, R Chahboune, S C Elalaoui, H Hamdaoui, R S Bencheikh, A Sefiani
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引用次数: 0

Abstract

Background: Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development characterized by numerous developmental anomalies that are restricted to the head and neck. Most TCS cases are inherited in an autosomal dominant manner. The diagnosis of TCS relies on clinical and radiographic findings. The four genes involved in TCS are TCOF1, POLR1D, POLR1C, and POLR1B.

Case presentation: In this report, we present the case of a 7-year-old Moroccan boy who exhibited distinctive dysmorphic features, including coloboma and zygomatic bone hypoplasia. Upon genetic analysis, a mutation in the TCOF1 gene was identified, conclusively confirming the presence of Treacher Collins Syndrome. It is worthy that the correct etiological diagnosis was significantly delayed due to the initial misperception that the observed malformation syndrome was a result of drug teratogenicity.

Conclusions: This case highlights the importance of seeking pharmacovigilance advice if any adverse event occurs following medication use. Furthermore, requesting a genetic consultation to establish a confirmed etiological diagnosis for any malformation syndrome can significantly reduce the protracted social and psychological suffering that patients and their families may endure.

最初被误诊为药物致畸的 Tracher-Collins 综合征:摩洛哥病例报告》。
背景:特雷撤-科林斯综合征(Treacher Collins Syndrome,TCS)是一种罕见的先天性颅面发育障碍疾病,其特征是局限于头颈部的多种发育异常。大多数 TCS 病例为常染色体显性遗传。TCS 的诊断主要依靠临床和影像学检查结果。TCS 涉及的四个基因是 TCOF1、POLR1D、POLR1C 和 POLR1B:在本报告中,我们介绍了一例 7 岁摩洛哥男孩的病例,他表现出明显的畸形特征,包括巨脑瘤和颧骨发育不全。经过基因分析,发现 TCOF1 基因发生了突变,最终确诊为特雷撤-科林斯综合征。值得注意的是,由于最初误认为所观察到的畸形综合征是药物致畸的结果,正确的病因诊断被严重延误:本病例强调了在用药后出现任何不良反应时寻求药物警戒建议的重要性。此外,要求进行遗传咨询以确定任何畸形综合征的病因诊断,可大大减少患者及其家属可能承受的长期社会和心理痛苦。
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来源期刊
CiteScore
1.00
自引率
0.00%
发文量
0
审稿时长
>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
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