A useful method to diagnose Pearson syndrome mimicking Diamond–Blackfan anemia

2021 ◽  
Vol 63 (2) ◽  
pp. 223-225
Author(s):  
Toyoki Nishimura ◽  
Ai Yamada ◽  
Maiko Utoyama ◽  
Yusuke Saito ◽  
Hiroshi Moritake
Keyword(s):  
Pearson Syndrome ◽  
Diamond Blackfan Anemia

scholarly journals Pearson syndrome masquerading diamond blackfan anemia: a case report

2018 ◽  
Vol 5 (6) ◽  
pp. 2353
Author(s):  
Sandip P. Bartakke ◽  
Abhilasha Ashok Sampagar ◽  
Mahesh Kamate ◽  
Nishant Mittal
Keyword(s):  
Case Report ◽  
Pancreatic Enzyme ◽  
Mitochondrial Disorder ◽  
Signs And Symptoms ◽  
Interventional Therapy ◽  
Related Disorder ◽  
Pearson Syndrome ◽  
Enzyme Replacement ◽  
Diamond Blackfan Anemia ◽  
Pancreatic Enzyme Replacement Therapy

Pearson syndrome (PS) is rare and often fatal multisystemic mitochondrial disorder. Many of those who survive develop signs and symptoms later in life of a related disorder called Kearns-Sayre syndrome (KSS). 13-month-old male child presented with transfusion dependent anemia since the age of 3 months and was initially labeled as a case of Diamond Black fan Anemia. Mitochondrial and pancreatic enzyme replacement therapy. Through this case report, we attempt to address the fact that possibility of PS, which is often labeled as DBA in initial stages, should be considered in cases of congenital anemia of uncertain etiology. Early diagnosis of PS and interventional therapy in the form of mitochondrial and pancreatic replacement can significantly prolong survival and improve quality of life.

scholarly journals Pearson Syndrome Masquerading Diamond Blackfan Anemia

2018 ◽  
Vol 3 (3) ◽  
pp. S33-S34
Author(s):  
Nalla Anuraag Reddy ◽  
Abhilasha Sampagar ◽  
Nishanth N. Mittal ◽  
Ranjit Kangle
Keyword(s):  
Pearson Syndrome ◽  
Diamond Blackfan Anemia

scholarly journals Pearson syndrome in a Diamond-Blackfan anemia cohort

Blood ◽  
2014 ◽  
Vol 124 (3) ◽  
pp. 312-313 ◽  
Author(s):  
Blanche P. Alter
Keyword(s):  
Pearson Syndrome ◽  
Diamond Blackfan Anemia

Partial hypopituitarism and primary hypotiroidism associated with Diamond-Blackfan Anemia

2019 ◽  
Author(s):  
Rosa Gomez Almendros ◽  
Ignacio Nocete Aragon ◽  
Lucia Prieto Coca ◽  
Maria Soledad Segurado Miravalles ◽  
Laura Kanaan Kanaan ◽  
...  
Keyword(s):  
Diamond Blackfan Anemia

scholarly journals Haematological characteristics and spontaneous haematological recovery in Pearson syndrome

2021 ◽  
Author(s):  
Ayami Yoshimi ◽  
Sarah C. Grünert ◽  
Holger Cario ◽  
Aron Fisch ◽  
Ute Gross‐Wieltsch ◽  
...  
Keyword(s):  
Pearson Syndrome

scholarly journals Targeted Resequencing and Analysis of the Diamond-Blackfan Anemia Disease Locus RPS19

PLoS ONE ◽  
2009 ◽  
Vol 4 (7) ◽  
pp. e6172 ◽  
Author(s):  
Alvaro Martinez Barrio ◽  
Oskar Eriksson ◽  
Jitendra Badhai ◽  
Anne-Sophie Fröjmark ◽  
Erik Bongcam-Rudloff ◽  
...  
Keyword(s):  
Disease Locus ◽  
Targeted Resequencing ◽  
Diamond Blackfan Anemia
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