Frontiers in Pediatrics (Jul 2022)
Case Report: Prenatal Diagnosis of Nemaline Myopathy
- Dongmei Liu,
- Dongmei Liu,
- Dongmei Liu,
- Jiali Yu,
- Jiali Yu,
- Jiali Yu,
- Xin Wang,
- Yang Yang,
- Yang Yang,
- Yang Yang,
- Li Yu,
- Li Yu,
- Li Yu,
- Shi Zeng,
- Shi Zeng,
- Shi Zeng,
- Ming Zhang,
- Ming Zhang,
- Ming Zhang,
- Ganqiong Xu,
- Ganqiong Xu,
- Ganqiong Xu
Affiliations
- Dongmei Liu
- Department of Ultrasound Diagnostic, The Second Xiangya Hospital, Central South University, Changsha, China
- Dongmei Liu
- Research Center of Ultrasound Diagnostic, The Second Xiangya Hospital, Central South University, Changsha, China
- Dongmei Liu
- Clinical Research Center for Medical Imaging in Hunan Province, Changsha, China
- Jiali Yu
- Department of Ultrasound Diagnostic, The Second Xiangya Hospital, Central South University, Changsha, China
- Jiali Yu
- Research Center of Ultrasound Diagnostic, The Second Xiangya Hospital, Central South University, Changsha, China
- Jiali Yu
- Clinical Research Center for Medical Imaging in Hunan Province, Changsha, China
- Xin Wang
- Department of Obstetrics and Gynecology Prenatal Diagnosis Center, The Second Xiangya Hospital, Central South University, Changsha, China
- Yang Yang
- Department of Ultrasound Diagnostic, The Second Xiangya Hospital, Central South University, Changsha, China
- Yang Yang
- Research Center of Ultrasound Diagnostic, The Second Xiangya Hospital, Central South University, Changsha, China
- Yang Yang
- Clinical Research Center for Medical Imaging in Hunan Province, Changsha, China
- Li Yu
- Department of Ultrasound Diagnostic, The Second Xiangya Hospital, Central South University, Changsha, China
- Li Yu
- Research Center of Ultrasound Diagnostic, The Second Xiangya Hospital, Central South University, Changsha, China
- Li Yu
- Clinical Research Center for Medical Imaging in Hunan Province, Changsha, China
- Shi Zeng
- Department of Ultrasound Diagnostic, The Second Xiangya Hospital, Central South University, Changsha, China
- Shi Zeng
- Research Center of Ultrasound Diagnostic, The Second Xiangya Hospital, Central South University, Changsha, China
- Shi Zeng
- Clinical Research Center for Medical Imaging in Hunan Province, Changsha, China
- Ming Zhang
- Department of Ultrasound Diagnostic, The Second Xiangya Hospital, Central South University, Changsha, China
- Ming Zhang
- Research Center of Ultrasound Diagnostic, The Second Xiangya Hospital, Central South University, Changsha, China
- Ming Zhang
- Clinical Research Center for Medical Imaging in Hunan Province, Changsha, China
- Ganqiong Xu
- Department of Ultrasound Diagnostic, The Second Xiangya Hospital, Central South University, Changsha, China
- Ganqiong Xu
- Research Center of Ultrasound Diagnostic, The Second Xiangya Hospital, Central South University, Changsha, China
- Ganqiong Xu
- Clinical Research Center for Medical Imaging in Hunan Province, Changsha, China
- DOI
- https://doi.org/10.3389/fped.2022.937668
- Journal volume & issue
-
Vol. 10
Abstract
Nemaline myopathy (NM) is a rare, hereditary heterogeneous myopathy. Fetal NM has a more severe disease course and a poorer prognosis and is usually lethal during the first few months of life. Hence, early prenatal diagnosis is especially important for clinical interventions and patient counseling. We report the case of a fetus with NM due to KLHL40 gene variation leading to arthrogryposis multiplex congenita (AMC). The ultrasonography and histopathology results revealed an enhanced echo intensity and decreased muscle thickness, which may be novel features providing early clues for the prenatal diagnosis of NM. Moreover, to our knowledge, this article is the first report to describe a case of NM associated with complex congenital heart disease (CHD).
Keywords
