肌张力减退诊断性检查的效用：一项为期12年的单中心研究。

Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study.

作者信息

AlBanji Mohammed H, AlSaad Abdulaziz N, AlAnazi Riyam F, Aleisa Zahra A, Alam Dalya S, Alhashim Aqeela H

机构信息

Department of Neuroscience, King Fahad Medical City, Riyadh, Saudi Arabia.

Department of neuroradiology, King Fahad Medical City, Riyadh, Saudi Arabia.

出版信息

Mol Genet Metab Rep. 2020 Oct 21;25:100665. doi: 10.1016/j.ymgmr.2020.100665. eCollection 2020 Dec.

DOI:10.1016/j.ymgmr.2020.100665

PMID:33101984

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7578558/

Abstract

INTRODUCTION

Hypotonia is a common presentation that child neurologists encounter daily. The hypotonic neonate represents a diagnostic challenge as a lesion at any level in the neuro-axis may cause hypotonia. In this paper, we study the diagnostic yield of investigations commonly used as part of a hypotonia work-up.

METHODS

A 12-year retrospective cohort study was conducted at a tertiary care center in Saudi Arabia from 2007 to 2018. Final diagnoses, clinical presentations, laboratory tests, imaging and genetic studies were reviewed from the patient's electronic health records.

RESULTS

164 patients were identified as fitting the inclusion criteria of the study. 50% had central hypotonia, 18% peripheral hypotonia and 32% mixed hypotonia. Molecular testing was performed for 82% (74) of patients. 65 Microarray studies were done; 27% abnormal and 9% diagnostic. 55 gene panels were done; 58% abnormal and 30% diagnostic. 53 single-gene tests were done; 57% abnormal and 40% diagnostic. 61 whole exome sequences were done; 72% positive and 59% diagnostic. 126 MRIs were reviewed; 56% abnormal and 33% contributed to the diagnosis.

CONCLUSION

Molecular genetic testing is our recommended next step in the diagnosis of patients with hypotonia after careful phenotyping. Neuroimaging is helpful to guide further costly workup of patients with hypotonia.

摘要

引言

肌张力减退是儿童神经科医生日常遇到的常见症状。低张性新生儿是一个诊断挑战，因为神经轴任何水平的病变都可能导致肌张力减退。在本文中，我们研究了作为肌张力减退检查一部分的常用检查的诊断价值。

方法

2007年至2018年在沙特阿拉伯的一家三级医疗中心进行了一项为期12年的回顾性队列研究。从患者的电子健康记录中回顾了最终诊断、临床表现、实验室检查、影像学和基因研究。

结果

164例患者符合该研究的纳入标准。50%为中枢性肌张力减退，18%为周围性肌张力减退，32%为混合性肌张力减退。82%（74例）患者进行了分子检测。进行了65项微阵列研究；27%异常，9%具有诊断意义。进行了55项基因检测板；58%异常，30%具有诊断意义。进行了53项单基因检测；57%异常，40%具有诊断意义。进行了61项全外显子测序；72%呈阳性，59%具有诊断意义。回顾了126例MRI；56%异常，33%有助于诊断。