Klin Padiatr 2014; 226(03): 190-191
DOI: 10.1055/s-0034-1368760
Short Communication
© Georg Thieme Verlag KG Stuttgart · New York

Granulocyte Colony Stimulating Factor for Treatment of Neutropenia-associated Infection in Pearson Syndrome

Granulozyten-Kolonie-stimulierender Faktor für die Behandlung Neutropenie-assoziierter Infektionen beim Pearson-Syndrom
F. Baertling, T. Meissner, A. Troeger, F. Pillekamp, E. Mayatepek, H.-J. Laws, F. Distelmaier
Further Information

Publication History

Publication Date:
14 March 2014 (eFirst)


Pearson syndrome (PS; i. e. Pearson marrow–pancreas syndrome, OMIM #557000) is a rare mitochondrial disorder characterized by bone marrow failure, exocrine pancreatic dysfunction, hepatic failure, renal tubulopathy and lactic acidemia. It is caused by sporadic deletions or duplications within the mitochondrial DNA (mtDNA). Its phenotype at onset is variable and may change with time as it depends on tissue distribution and relative amounts of abnormal mtDNA.

Endoscopically placed gastrostomy (PEG) tubes are essential in some patients with PS for the treatment of failure to thrive in order to achieve normal growth and weight gain (Seneca S et al., Clin Genet 1997; 51: 338–342). We present the case of a 2-year-old girl, who suffered severe gastrostomy site infection during a period of neutropenia and was successfully treated with granulocyte colony stimulating factor (GCSF). We discuss the risks of PEG tube placement during neutropenia and the role of GCSF treatment in PS patients.