Abstract
Pearson marrow-pancreas syndrome is a fatal disorder mostly diagnosed during infancy and caused by mutations of mitochondrial DNA. We hereby report on four children affected by Pearson syndrome with hematological disorders at onset. The disease was fatal to three of them and the fourth one, who received hematopoietic stem cell transplantation, died of secondary malignancy. In this latter patient transplantation corrected hematological and non-hematological issues like metabolic acidosis, and we therefore argue that it could be considered as a useful option in an early stage of the disease.
| Original language | English |
|---|---|
| Pages (from-to) | 3063-3066 |
| Number of pages | 4 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 155 |
| Issue number | 12 |
| DOIs | |
| Publication status | Published - Dec 2011 |
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Keywords
- Anemia
- Hematopoietic stem cell transplantation
- Mitochondrial disorders
- Pearson marrow-pancreas syndrome
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Clinical manifestations and management of four children with Pearson syndrome. / Tumino, Manuela; Meli, Concetta; Farruggia, Piero; La Spina, Milena; Faraci, Maura; Castana, Cinzia; Di Raimondo, Vincenzo; Alfano, Marivana; Pittalà, Annarita; Lo Nigro, Luca; Russo, Giovanna; Di Cataldo, Andrea.
In: American Journal of Medical Genetics, Part A, Vol. 155, No. 12, 12.2011, p. 3063-3066.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Clinical manifestations and management of four children with Pearson syndrome
AU - Tumino, Manuela
AU - Meli, Concetta
AU - Farruggia, Piero
AU - La Spina, Milena
AU - Faraci, Maura
AU - Castana, Cinzia
AU - Di Raimondo, Vincenzo
AU - Alfano, Marivana
AU - Pittalà, Annarita
AU - Lo Nigro, Luca
AU - Russo, Giovanna
AU - Di Cataldo, Andrea
PY - 2011/12
Y1 - 2011/12
N2 - Pearson marrow-pancreas syndrome is a fatal disorder mostly diagnosed during infancy and caused by mutations of mitochondrial DNA. We hereby report on four children affected by Pearson syndrome with hematological disorders at onset. The disease was fatal to three of them and the fourth one, who received hematopoietic stem cell transplantation, died of secondary malignancy. In this latter patient transplantation corrected hematological and non-hematological issues like metabolic acidosis, and we therefore argue that it could be considered as a useful option in an early stage of the disease.
AB - Pearson marrow-pancreas syndrome is a fatal disorder mostly diagnosed during infancy and caused by mutations of mitochondrial DNA. We hereby report on four children affected by Pearson syndrome with hematological disorders at onset. The disease was fatal to three of them and the fourth one, who received hematopoietic stem cell transplantation, died of secondary malignancy. In this latter patient transplantation corrected hematological and non-hematological issues like metabolic acidosis, and we therefore argue that it could be considered as a useful option in an early stage of the disease.
KW - Anemia
KW - Hematopoietic stem cell transplantation
KW - Mitochondrial disorders
KW - Pearson marrow-pancreas syndrome
UR - http://www.scopus.com/inward/record.url?scp=81955167459&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=81955167459&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.34288
DO - 10.1002/ajmg.a.34288
M3 - Article
VL - 155
SP - 3063
EP - 3066
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 12
ER -