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Case Report: Prenatal Diagnosis of Nemaline Myopathy


Case Reports


doi: 10.3389/fped.2022.937668.


eCollection 2022.

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Case Reports

Dongmei Liu et al.


Front Pediatr.


.

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.

Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures



FIGURE 1

Ultrasound images and histopathology of the prenatal and postnatal extremities. (A) Intrauterine ultrasound examination. (B,C) Postpartum high-frequency probe examination showed NM fetal upper limb muscle echo close to the humerus echo, and many hyperechoic regions (thin yellow arrows) in the muscle layer and subcutaneous tissue. (D) Right calf muscle Masson trichrome staining × 40 and (E) right calf muscle elastic fiber staining × 200. The muscle fiber fascicles were sparse and replaced by collagen fibers (thick red arrows) and elastic fibers (thick blue arrows). (F) Right calf skin H&E × 40 showed fibrous tissue (thick red arrows) proliferated in the dermis layer and subcutaneous tissue. (G–I) The normal fetal upper limb muscle echo was significantly lower than the humerus echo, and the subcutaneous tissue had low echo intensity with several echogenic septa of connective tissue. The thick white arrows point to the long bones of the fetal limbs. (J–L) The normal fetal right calf muscle H&E × 40, Masson trichrome staining × 40 and elastic fiber staining ×40.


FIGURE 2


FIGURE 2

Prenatal 3D ultrasound images and fetal echocardiography, postpartum gross anatomical specimens, X-ray photographs and cardiac anatomy. (A) Postmortem photo demonstrated multiple contractures of the upper and lower extremities. (B,C) Three-dimensional ultrasound showed fetal foot inversion and tilted fingers. (D) X-rays showed bilateral humerus and right femur fractures (thin white arrow). (E,F) Prenatal echocardiography showed a right ventricular double outlet with coarctation of the aortic arch. (G,H) Postpartum cardiac anatomy confirmed sonographic findings. In addition, there were four arteries of the aortic arch, from right to left: BA, the brachiocephalic artery; LCCA, the left common carotid artery; LVA, the left vertebral artery; and LSA, the left subclavian artery. RV, right ventricle; AO, aorta; PA, pulmonary artery; LPA, left pulmonary artery; RPA, right pulmonary artery; DA, ductus arteriosus; DAO, descending aorta; ARCH, aortic arch.


FIGURE 3


FIGURE 3

Anatomical and pathological images of the limb muscles. (A,B) Gross anatomy showed thickened subcutaneous fat (black star) and a thin muscle layer (black triangle) in the lower limbs of the fetus. (C) Right thigh muscle cross section H&E × 40 and (D) Right forearm muscle longitudinal section Masson trichrome × 40. The muscle bundles showed marked variation in size, and muscle fibers were replaced by fibrous tissue (thick black arrows) and adipose tissue (red star). (E,F) Right calf muscle cross section and longitudinal section anti-α-actinin antibody stained × 400. The muscle fibers were sparse, degenerated, and atrophied. Lots of nemaline rods in muscle fibers were strongly stained with anti-α-actinin antibody (thin black arrow).

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