scholarly journals SYNDROME DE MECKEL GRUBER: A PROPOS DUN CAS RARE

2021 ◽  
Vol 9 (06) ◽  
pp. 365-369
Author(s):  
B. Ouafidi ◽  
◽  
O. Wajih ◽  
F. Elmiski ◽  
H. Kiram ◽  
...  

Meckel-Gruber syndrome is a monogenic congenital disorder characterized by occipital encephalocele, polydactyly, and polycystic kidneys. This syndrome is incompatible with life. We report a case diagnosed on fetal ultrasound at a gestational age of 22 SA and 6 days, presenting the clinical triad of Meckel-Gruber syndrome. A medical termination of the pregnancy was indicated. From this rare case, and through a review of the literature, we will discuss the different clinical, ultrasound and prognostic aspects of this rare pathology.

Author(s):  
Rudrika Chandra ◽  
Bhanu Pratap Singh ◽  
Sanjay Singh

Meckel Gruber syndrome (MGS) is a rare lethal autosomal recessive disorder.  It is characterized by triad of features having occipital meningoencephalocele, polycystic kidneys and post-axial polydactyly. We report an antenatal patient detected with occipital meningoencephalocele in foetus on early anomaly scan at 15 weeks of gestation followed by foetal MRI which revealed the typical triad features strongly suggestive of MGS. The patient opted for medical termination of pregnancy and the abortus was autopsied, with the permission of the patient, for detailed evaluation of anomalies which were consistent with MGS. This case highlights the importance of a detailed foetal evaluation antenatally to detect anomalies which are incompatible with life and proper diagnosis as it has bearing on patient’s future obstetric outcome.


2021 ◽  
Vol 23 ◽  
pp. 200479
Author(s):  
Sakda Sathirareuangchai ◽  
Jayati Mallick ◽  
Allen R. Hendricks ◽  
Jose R. Torrealba

2021 ◽  
Vol 15 ◽  
pp. 263349412110235
Author(s):  
Noemi J. Hughes ◽  
Saeed M.S.R. Choudhury ◽  
Sidath H. Liyanage ◽  
Munawar Hussain

We report a rare case of in vitro fertilisation (IVF) with egg donation complicated by a subarachnoid haemorrhage (SAH). Haemostatic changes related to IVF are known to increase risk of venous thrombosis; however, less is known regarding the risk of arterial events such as cerebrovascular accidents (CVA). Matrix metalloprotease-9 (MMP-9) upregulated in IVF patients may have a role in arterial aneurysm formation, which is the most common cause of SAH. Further research is required to assess the benefit of screening for risk of CVA and the best way to manage this in the IVF population. This may have implications for the ethics of offering certain procedures such as egg donation to women with pre-existing risk factors.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Guiqin Chen ◽  
Lei Nie ◽  
Tijiang Zhang

Abstract Background The accessory spleen has no anatomical or vascular relationship with the normal spleen, The tissue structure and physiological function of the accessory spleen are the same as those of the normal spleen, which usually locate in the splenic hilum and the tail of the pancreas. The aims of this manuscript are to present a rare case of the gastric accessory spleen and a review of the literature. Case presentation A 19-year-old male patient was sent to the emergency department with stomach bleeding after drinking alcohol. The computed tomographic scan showed a 1.2 cm × 1.7 cm mass at the lesser curvature of the gastric fundus. Gastrointestinal endoscopy displayed a submucosal elevated lesion on the gastric fundus, and gastrectomy was performed. Postoperative pathological examination proved an accessory spleen in the stomach. The postoperative course was uneventful, and the patient was discharged on the 6th day after the surgery. Conclusions The accessory spleen at the fundus of stomach is extremely rare, especially in this case, which is accompanied by acute gastric bleeding, and it is difficult to diagnosis before operation. Many literatures reported that it was misdiagnosis as tumor, so it is necessary to diagnose accessory spleen correctly.


2014 ◽  
Vol 9 (2) ◽  
pp. 587-590 ◽  
Author(s):  
JIEMIN ZHAO ◽  
YAN TAN ◽  
YUGANG WU ◽  
WEI ZHAO ◽  
JUN WU ◽  
...  

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