Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea
Journal of Korean Medical Science
; : 1-3, 2017.
Article
in English
| WPRIM (Western Pacific)
| ID: wpr-10424
Responsible library:
WPRO
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.
Full text:
Available
Health context:
SDG3 - Health and Well-Being
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SDG3 - Target 3.4 Reduce premature mortality due to noncommunicable diseases
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SDG3 - Target 3.2 Reduce avoidable death in newborns and children under 5
Health problem:
Target 3.2: Reduce avoidable death in newborns and children under 5
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Cardiovascular Disease
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Congenital and Chromosomal Anomalies
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Musculoskeletal Diseases and Rheumatic Disorders
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Other circulatory Diseases
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Neonatal Healthcare
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Noncommunicable Diseases
/
Nutrition
Database:
WPRIM (Western Pacific)
Main subject:
Skin
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Tricuspid Valve Insufficiency
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Codon
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Ectopia Lentis
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Calcium
/
Exons
/
Follow-Up Studies
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Cisterna Magna
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Glutamic Acid
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Contracture
Type of study:
Diagnostic study
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Observational study
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Prognostic study
Limits:
Humans
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Male
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Infant, Newborn
Country/Region as subject:
Asia
Language:
English
Journal:
Journal of Korean Medical Science
Year:
2017
Document type:
Article