Kidney Transplant and Autosomal Recessive Polycystic Disease: A Case Report and Literature Review of 2 Brothers

Author(s):  
Jamshid Roozbeh ◽  
Anahita Dehghani ◽  
Abdolreza Haghpanah ◽  
Aida Doostkam ◽  
Leila Malekmakan



2021 ◽  
pp. 101196
Author(s):  
Torki M AlOtaibi ◽  
Osama A Gheith ◽  
Khaled Alobaid ◽  
Prasad Nair ◽  
Sohair M Zein Eldein ◽  
...  


Author(s):  
Chengbei Bao ◽  
Hui Ke ◽  
Haiqing Wang ◽  
Wei Zhou ◽  
Ting Gong ◽  
...  




2020 ◽  
Vol 22 (6) ◽  
Author(s):  
Alfredo G. Puing ◽  
Antoine Couture‐Cossette ◽  
Aileen X. Wang ◽  
Corinna C. Zygourakis ◽  
Xingxing Cheng ◽  
...  


2020 ◽  
Vol 15 (9) ◽  
pp. 1587-1590 ◽  
Author(s):  
Alireza Rasekhi ◽  
Meisam Hoseinyazdi ◽  
Saeid Esmaeilian ◽  
Arash Teimouri ◽  
Akbar Safaei ◽  
...  


2021 ◽  
Vol 4 ◽  
pp. 122
Author(s):  
Andreea M Pavel ◽  
Carol M Stephens ◽  
Sean R Mathieson ◽  
Brian H Walsh ◽  
Brian McNamara ◽  
...  

Isolated sulfite oxidase deficiency (ISOD) is a rare autosomal recessive neuro-metabolic disorder caused by a mutation in the sulfite oxidase (SUOX) gene situated on chromosome 12. Due to the deficiency of this mitochondrial enzyme (sulfite oxidase), the oxidative degradation of toxic sulfites is disrupted. The most common form of this disease has an early onset (classical ISOD) in the neonatal period, with hypotonia, poor feeding and intractable seizures, mimicking hypoxic-ischaemic encephalopathy. The evolution is rapidly progressive to severe developmental delay, microcephaly and early death. Unfortunately, there is no effective treatment and the prognosis is very poor. In this article, we described the evolution of early continuous electroencephalography (EEG) in a case of ISOD with neonatal onset, as severely encephalopathic background, with refractory seizures and distinct delta-beta complexes. The presence of the delta-beta complexes might be a diagnostic marker in ISOD. We also performed a literature review of published cases of neonatal ISOD that included EEG monitoring.



2013 ◽  
Vol 8 (2) ◽  
pp. 141-144 ◽  
Author(s):  
Jelka Masin-Spasovska ◽  
Koco Dimitrovski ◽  
Sotir Stavridis ◽  
Oliver Stankov ◽  
Saso Dohcev ◽  
...  


Sign in / Sign up

Export Citation Format

Share Document