J Korean Med Sci.  2017 Jan;32(1):1-3. 10.3346/jkms.2017.32.1.1.

Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea

• Heo JS
• Song JY
• Choi EY
• Kim EH
• Kim JH
• Park SE
• Jeon JH

• KMID: 2417577
• DOI: http://doi.org/10.3346/jkms.2017.32.1.1

Abstract

Neonatal Marfan syndrome (nMFS) is considered to be on the most severe end of the spectrum of type I fibrillinopathies. The common features of nMFS include ascending aortic dilatation, severe mitral and/or tricuspid valve insufficiency, ectopia lentis, arachnodactyly, joint contractures, crumpled ear, loose skin, and pulmonary emphysema.We describe a newborn male diagnosed with nMFS. He presented several atypical features, such as diaphragmatic eventration, severe hydronephrosis with hydroureter, and dilated cisterna magna. Molecular analysis revealed a missense mutation at nucleotide 3217 (c.3217G>A) in exon 26 of the fibrillin-1 (FBN1) gene, resulting in the substitution of a glutamate for a lysine at codon 1073 (E1073K) in the 12th calcium binding epidermal growth factor-like domain of the FBN1 protein. Here we report a rare case of Nmfs with several combined atypical features, such as diaphragmatic eventration, severe hydronephrosis with hydroureter, and dilated cisterna magna. Our report is the first atypical nMFS case with p.Glu1073Lys mutation of FBN1 in Korea and may help clinicians with the diagnosis and follow-up of atypical nMFS.

Keyword

Marfan Syndrome; Neonate; Diaphragmatic Eventration; Hydronephrosis; Cisterna Magna

MeSH Terms

Arachnodactyly
Calcium
Cisterna Magna
Codon
Contracture
Diagnosis
Diaphragmatic Eventration
Dilatation
Ear
Ectopia Lentis
Exons
Follow-Up Studies
Glutamic Acid
Humans
Hydronephrosis
Infant, Newborn
Joints
Korea*
Lysine
Male
Marfan Syndrome*
Mutation, Missense
Skin
Tricuspid Valve Insufficiency
Calcium
Codon
Glutamic Acid
Lysine

Figure

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  Fig. 1 Images from echocardiography, renal ultrasonography, brain magnetic resonance imaging, chest radiography, and dynamic thoracic ultrasonography. (A) Dilated aortic root (aortic sinus diameter 14.9 mm, z-score 4.5). (B) Gr 4 hydronephrosis and hydroureter on the right. (C) Dilated cisterna magna on the left. (D) Eventration of the right hemidiaphragm. (E) Weak diaphragmatic motion and shallow excursion on the right during respiration.

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