Apert syndrome: temporal lobe abnormalities on fetal brain imaging

2014 ◽  
Vol 35 (2) ◽  
pp. 179-182 ◽  
Author(s):  
Zornitza Stark ◽  
George McGillivray ◽  
Amanda Sampson ◽  
Ricardo Palma-Dias ◽  
Andrew Edwards ◽  
...  
2018 ◽  
Vol 34 (9) ◽  
pp. 1617-1618
Author(s):  
Miguel Quintas-Neves ◽  
João Paulo Soares-Fernandes

2020 ◽  
Vol 30 (6) ◽  
Author(s):  
Ahmad Reza Tahmasebpour ◽  
Behnaz Moradi ◽  
Mohammad Ali Kazemi

Introduction: Apert Syndrome is one of the severe forms of craniosynostosis syndromes. Here we present the first case of 20 weeks fetus with temporal lobe abnormalities with a scalp cyst in fetal MRI. Case Presentation: A 34-year-old woman at 19 weeks of pregnancy presented with normal first trimester scan and with acrocephaly, mild ventriculomegaly (10.5 mm), hypertelorism, and mitten glove syndactyly of hands of the fetus in second trimester ultrasound scan. Also a scalp cyst without calvarial bone defect was found. One week later, fetal brain MRI on 1.5 T scanner confirmed 2D ultrasound findings. Also bilateral temporal lobe overconvolution and low set ears were detected by MRI. These imaging features strongly suggested Apert or a related craniosynostosis syndrome. Amniocentesis result revealed the heterozygous FGFR2 gene mutation consistent with Apert syndrome. Conclusions: Fetal MRI and ultrasound are complementary tools for full evaluation of different aspects of a syndromic condition in fetus that is very important for proper genetic testing and counseling.


2019 ◽  
Vol 54 (S1) ◽  
pp. 113-113
Author(s):  
R. Birnbaum ◽  
W. Adi ◽  
M. Brusilov ◽  
I. Wolman ◽  
K.K. Haratz ◽  
...  

2017 ◽  
Vol 80 (1) ◽  
pp. 279-285 ◽  
Author(s):  
Rita G. Nunes ◽  
Giulio Ferrazzi ◽  
Anthony N. Price ◽  
Jana Hutter ◽  
Andreia S. Gaspar ◽  
...  
Keyword(s):  

2017 ◽  
Vol 39 (2) ◽  
pp. 380-384 ◽  
Author(s):  
S.A. Manikkam ◽  
K. Chetcuti ◽  
K.B. Howell ◽  
R. Savarirayan ◽  
A.M. Fink ◽  
...  

2018 ◽  
Vol 6 (9) ◽  
pp. 1697-1698 ◽  
Author(s):  
Charmaine Zahra ◽  
Reuben Grech

BACKGROUND: Multinodular and Vacuolating Neuronal Tumor (MVNT) of the cerebrum is a benign lesion described recently in the WHO CNS tumours in 2016. Although this tumour is uncommon, clinicians should be acquainted with the possible presentation and imaging findings. CASE REPORT: We present a case of a young gentleman whose only symptom was absence seizures. Brain imaging showed lesions, compatible with this rare diagnosis. CONCLUSION: Our description of imaging findings on MRI highlights the characteristic cystic appearances of note in the right occipital lobe, in contrast to the temporal lobe as the predominant location found in previous cases.


2017 ◽  
Vol 80 (1) ◽  
pp. 137-146
Author(s):  
Giulio Ferrazzi ◽  
Anthony N. Price ◽  
Rui Pedro A.G. Teixeira ◽  
Lucilio Cordero-Grande ◽  
Jana Hutter ◽  
...  

2004 ◽  
Vol 23 (4) ◽  
pp. 333-340 ◽  
Author(s):  
G. Malinger ◽  
L. Ben-Sira ◽  
D. Lev ◽  
Z. Ben-Aroya ◽  
D. Kidron ◽  
...  

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