Case Report: Prenatal Diagnosis of Nemaline Myopathy

Overview

Journal Front Pediatr

Specialty Pediatrics

Date 2022 Aug 5

PMID 35928692

Authors

Dongmei Liu

Jiali Yu

Xin Wang

Yang Yang

Li Yu

Shi Zeng

Ming Zhang

Ganqiong Xu

Affiliations

Soon will be listed here.

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 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).

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