scholarly journals Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report

2018 ◽  
Vol 44 (1) ◽  
Author(s):  
Luciano De Simone ◽  
Laura Capirchio ◽  
Rosa Maria Roperto ◽  
Paola Romagnani ◽  
Michele Sacchini ◽  
...  
Author(s):  
Krzysztof Dowgierd ◽  
Anna Lipowicz ◽  
Małgorzata Kulesa-Mrowiecka ◽  
Wojciech Wolański ◽  
Paweł Linek ◽  
...  

2020 ◽  
Vol 33 (6) ◽  
Author(s):  
Yang Wang ◽  
Yuanyuan Xiao ◽  
Yunzhu Li ◽  
Libing Fu ◽  
Feihong Yu ◽  
...  

2017 ◽  
Vol 41 (2) ◽  
pp. 129-131 ◽  
Author(s):  
Anca Chiriac ◽  
Irina Costache ◽  
Cristian Podoleanu ◽  
Adrian Naznean ◽  
Simona Stolnicu

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Sarah Contorno ◽  
Giorgio Cozzi ◽  
Irene Berti ◽  
Egidio Barbi ◽  
Andrea Taddio

Abstract Background We reported the case of a two-old-year boy with a painful acute hemorrhagic edema. This is a self-limited benign condition: usually, affected children are well appearing and this strongly support the diagnosis. In the opposite, in our case, we observed a painful presentation of the edema. Therefore, we demonstrated that rarely, this condition could have also a painful presentation. Conclusions This case report helps clinician to know that also acute hemorrhagic edema could have a painful presentation, so we must considered it in the differential diagnosis with sepsis, sickle cell crisis and child abuse. We believe that these findings will be of interest to pediatricians.


1997 ◽  
Vol 20 (1) ◽  
pp. 59-61 ◽  
Author(s):  
B�lent G�l ◽  
Sezer Kula�oglnu ◽  
Muammer Y�kse ◽  
Handan Dogan ◽  
Ali Ihsan �kten
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