scholarly journals Prenatal diagnosis of zellweger syndrome by fetal MRI: a case report

2021 ◽  
Vol 16 (12) ◽  
pp. 3950-3954
Author(s):  
Joana Diaz ◽  
Larry Matsumoto ◽  
Jennifer Kucera Neville
2002 ◽  
Vol 32 (5) ◽  
pp. 373-375 ◽  
Author(s):  
Hiroshi Suzumura ◽  
Tatsuo Kohno ◽  
Gen Nishimura ◽  
Hiroshi Watanabe ◽  
Osamu Arisaka

2016 ◽  
Vol 7 (1) ◽  
Author(s):  
M. Molinaro ◽  
F. Mariscoli ◽  
M. Sica ◽  
E. Bindi ◽  
R. Angotti ◽  
...  

<strong>Introduction</strong> Duodenal atresia Windsocks type is a rare condition of congenital bowel obstruction. Thanks to recent technological advancements of prenatal diagnosis it is possible to make a diagnosis of duodenal atresia with high degree of certainty through the radiological sign of “double bubble”, but up to date it is not yet possible to identify the type of duodenal atresia. We report the case of a patient with prenatal diagnosis of “double bubble”. The patient had no other concomitant malformations. <br /><strong>Case Report</strong> The patient came to our attention after prenatal ultrasound that showed a picture of double bubble. At the 27th week of gestation we performed fetal MRI that confirmed the US pattern of double bubble but it did not identify with certainty the type of duodenal atresia. At birth the patient underwent GI rx examination that showed a picture of partial duodenal obstruction compatible with the Windsocks type. On the following day, we performed endoscopy which showed the presence of duodenal membrane, so the patient underwent surgical treatment with a longitudinal duodenal incision in order to treat the wind-sock membrane. After one month a further Upper-GI rx examination showed a regular transit of the contrast. Four months after the first operation the patient underwent new surgical treatment for bowel obstruction by adhesions. The operation was successful and the patient had a complete recover.<br /><strong>Conclusions</strong> Patients with prenatal diagnosis of “double bubble” require a multidisciplinary approach for proper clinical management. Unfortunately it is not currently possible to identify with certainty by prenatal ultrasound the type of duodenal atresia, but in case of incomplete bowel occlusion , the possibility of an atresia Windsocks type should always be considered, especially for setting the right surgical approach.


2016 ◽  
Vol 73 (1) ◽  
pp. 77-82
Author(s):  
Natasa Cerovac ◽  
Milan Terzic ◽  
Milan Borkovic ◽  
Nevena Divac ◽  
Radan Stojanovic ◽  
...  

Introduction. Lissencephaly (?smooth brain?) forms a major group of brain malformations due to abnormal neuronal migration. It can cause severe intellectual and motor disability and epilepsy in children. The prenatal diagnosis of this malformation is rare. Case report. We presented a case of the prenatal diagnosis of lissencephaly. A 30-year old pregnant woman was reffered to the hospital at the week 35 of gestation for magnetic resonance imaging (MRI) after an ultrasound examination demonstrated fetal cerebral ventriculomegaly. Fetal MRI of the brain showed ?smooth?, agyrya cortex. The female infant was born at term with birth weight of 2,500 g and Apgar score 8, showing global developmental delay. Postnatal ultrasound and MRI confirmed classical lissencephaly. She is now 8 years old and has spastic quadriparesis, mental retardation and epilepsy. Conclusion. Confirmation of the ultrasound diagnosis with MRI is desirable for the prenatal diagnosis of lissencephaly.


Author(s):  
I Staboulidou ◽  
K Miller ◽  
G Göhring ◽  
P Hillemanns ◽  
M Wüstemann

2019 ◽  
Vol 24 (4) ◽  
pp. 371-375
Author(s):  
Li-tal Pratt ◽  
Shelly I. Shiran ◽  
Ronit Precel ◽  
Liat Ben-Sira ◽  
Gustavo Malinger ◽  
...  

Mature teratomas (MTs) of the posterior fossa are extremely rare. The authors present a case of a prenatal diagnosis of an MT splitting the brainstem. Representative images as well as the clinical and surgical course are presented. Literature regarding “split brainstem” and MT of the posterior fossa is discussed.


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