Noonan syndrome from a fetopathologist perspective
Authors:
Tatiana Stupková 1; Marta Ježová 2; Monika Matyášová 3; Pavel Vlašín 3
Authors place of work:
Ústav patologie FN Brno
1, 2; Cytogenetická laboratoř Brno
3
Published in the journal:
Čes.-slov. Patol., 55, 2019, No. 1, p. 48-52
Category:
Original Articles
Summary
We present our experience with four cases of fetal autopsies with abnormal prenatal ultrasound findings and suspicion of Noonan syndrome. These were fetuses from the 17th to the 24th age of gestation (GA). In all cases, prenatal ultrasound examination recorded increased nuchal translucency (NT) and presence of lymphatic neck sacs. Some fetuses showed signs of fetal hydrops and polyhydramnion was found. Similar signs and congenital developmental defects were confirmed in the autopsy examination. These were primarily signs of developing fetal hydrops with increased nuchal edema, in some cases up to the character of cystic hygroma, pleural and abdominal effusions, congenital heart and kidney defects, skeletal defects and facial dysmorphism. A karyotype was examined in all cases without chromosome aneuploidy. The diagnosis of NS was confimed by subsequent genetic analysis of causal gene mutations (mainly PTPN11, KRAS, RAF 1,…). Our cases demonstrate a wide range of signs of prenatal presentation of this syndrome. Because of wide differential diagnosis, summarizing prenatal ultrasound findings, autopsy examination and molecular genetic testing is essential.
Keywords:
Noonan syndrome – prenatal testing – polyhydramnion – hydrops fetalis – RASopathies.
Zdroje
1. Nisbet D, Griffin D, Chitty L. Prenatal features of Noonan syndrome. Prenatal Diagnosis 1999; 19(7): 642-647.
2. Croonen E, Nillesen W, Stuurman K, et al. Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. European Journal of Human Genetics 2013; 21(9): 936-942.
3. Van der Burgt I. Noonan syndrome. Orphanet Journal of Rare Diseases 2007; 2(1): 4.
4. Moczulska H, Piotrowicz M, Janiak K, Jakubowski L, Respondek-Liberska M. Prenatal suspicion of Noonan syndrome on the basis of echocardiographic findings - a case report. PRENAT CARDIO 2013; 3(2): 26-30.
5. Romano A. Noonan syndrome- Clinical perspectives and growth issues. US Endocrinology 2008; 04(02): 93-96.
6. Staboulidou I, Pereira S, Cruz J, Syngelaki A, Nicolaides K. Prevalence and Outcome of Absence of Ductus Venosus at 11+0 to 13+6 Weeks. Fetal Diagnosis and Therapy 2011; 30(1): 35-40.
7. Demirci O, Yavuz T, Arisoy R, Pekin O, et al. Agenesis of the ductus venosus a case with Noonan syndrome. Genetic counseling 2015; 26(3): 373-376.
8. Derbent M, Oncel Y, Tokel K, Varan B, et al. Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. Am J Med Genet Part 2010; A 152 A: 2768-2774.
9. Sharland M, Burch M, McKenna WM, Paton MA. A clinical study of Noonan syndrome. Archives of Disease in Childhood 1992; 67(2): 178-183.
10. Bouchikhi I, Belhassan K, Moufid F, et al. Noonan syndrome-causing genes: molecular update and an assessment of the mutation rate. International Journal of Pediatrics and Adolescent Medicine 2016; 3(4): 133-142.
11. Aoki Y, Matsubara Y. Ras/MAPK syndromes and childhood hemato-oncological diseases. International Journal of Hematology 2013; 97(1): 30-36.
12. Ilenčíková D, Čižmárová M, Krajčiová A, Požgayová S, Rybárová A, Kovács L. Klinické dysmorfické syndrómy s tumorigenézou: Clinical dysmorphic syndromes with tumorigenesis. Klinická onkologie. Hereditární nádorová onemocnění III. 2012; 25: 39-48.
13. Bakker M, Pajkrt E, Mathijssen I. B, Bilardo C. M. Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype. Prenat Diagn 2011; 31: 833–840.
Štítky
Anatomical pathology Forensic medical examiner ToxicologyČlánok vyšiel v časopise
Czecho-Slovak Pathology
2019 Číslo 1
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