Case Report: Prenatal Diagnosis of Nemaline Myopathy

Dongmei Liu; Jiali Yu; Xin Wang; Yang Yang; Li Yu; Shi Zeng; Ming Zhang; Ganqiong Xu

doi:10.3389/fped.2022.937668

Case Report: Prenatal Diagnosis of Nemaline Myopathy

Front Pediatr. 2022 Jul 19:10:937668. doi: 10.3389/fped.2022.937668. eCollection 2022.

Authors

Dongmei Liu^{1

2

3}, Jiali Yu^{1

2

3}, Xin Wang⁴, Yang Yang^{1

2

3}, Li Yu^{1

2

3}, Shi Zeng^{1

2

3}, Ming Zhang^{1

2

3}, Ganqiong Xu^{1

2

3}

Affiliations

¹ Department of Ultrasound Diagnostic, The Second Xiangya Hospital, Central South University, Changsha, China.
² Research Center of Ultrasound Diagnostic, The Second Xiangya Hospital, Central South University, Changsha, China.
³ Clinical Research Center for Medical Imaging in Hunan Province, Changsha, China.
⁴ Department of Obstetrics and Gynecology Prenatal Diagnosis Center, The Second Xiangya Hospital, Central South University, Changsha, China.

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: KLHL40 gene; amyoplasia; arthrogryposis multiplex congenita; nemaline myopathy; prenatal diagnosis.

Publication types

Case Reports