Publications

Authors:

Tadiotto, Elisa; Maines, Evelina; Degani, Daniela; Balter, Rita; Bordugo, Andrea; Cesaro, Simone

Title:

Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature

Year:

2018

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Referee:

No

Name of journal:

PEDIATRIC BLOOD & CANCER

ISSN of journal:

1545-5009

N° Volume:

65

Number or Folder:

4

Page numbers:

1-4

Keyword:

Pearson syndrome; bone marrow; hypocellularity; neonatal; ringed sideroblasts; vacuolization of hematopoietic precursors

Short description of contents:

Pearson syndrome (PS) is a rare mitochondrial disorder that usually presents with transfusion-dependent macrocytic anemia, exocrine pancreatic dysfunction, and lactic acidosis. Typical bone marrow (BM) features are vacuolization in hematopoietic progenitors, hypocellularity, and ringed sideroblasts. At the neonatal age, PS may have a variable clinical onset. Moreover, there is little information about BM features at this age and the timing of their presentation. We report a neonatal case of PS that presented with refractory anemia and atypical BM features. We reviewed the BM findings in neonatal-onset PS cases to stress the importance and limitations of BM evaluation at this age.

Note:

The page range is based on PDF FILE available on the journal website

Product ID:

109276

Handle IRIS:

11562/997254

Last Modified:

November 18, 2022

Bibliographic citation:

Tadiotto, Elisa; Maines, Evelina; Degani, Daniela; Balter, Rita; Bordugo, Andrea; Cesaro, Simone, Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature «PEDIATRIC BLOOD & CANCER» , vol. 65 , n. 4 , 2018 , pp. 1-4

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