A PEER-REVIEWED JOURNAL OF RESEARCH AND CLINICAL MEDICINEISSN 1727-2378 (Print)         ISSN 2713-2994 (Online)
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A Case of Pearson Syndrome in an Infant: Clinical Observation

DOI:10.31550/1727-2378-2018-155-11-38-42
For citation: Panchenko A.S., Maksimova O.G., Matsekha E.P., Kryazheva O.I., Stepanova N.V., Erokhina T.M. A Case of Pearson Syndrome in an Infant: Clinical Observation. Doctor.Ru. 2018; 11(155): 38–42. DOI: 10.31550/1727-2378-2018-155-11-38-42
06 december 2018

Article Objective: to introduce neonatologists, pediatricians, hematologists and oncologists into peculiarities of diagnostics, clinical signs and therapy of Pearson syndrome (PS) in children.

Key Points. PS is a mitochondrial disease. It is a multisystem disease, involving primarily the hemopoietic system, pancreatic gland and liver and caused by a defective mitochondrial DNA.PS manifestations are marrowy deficiency in children of up to 1 year old which leads to differential diagnostics with other haematological diseases.The article describes a very rare clinical case of the disease which manifested itself from the very birth with transfusion-dependant anaemia, moderate thrombocytopenia and multi-organ failure.

Conclusion. PS diagnostics is quite difficult due to its rare occurrence and various clinical manifestations. The outcome prognosis is poor due to progressive uncontrolled lacticacidemia.


T.M. Erokhina — Regional Children’s Clinical Hospital, Chita. E-mail: erokhinatatyana72@mail.ru

O.I. Kryazheva — Transbaical Regional Oncologic Dispensary, Chita. E-mail: okryazheva73@mail.ru

O.G. Maksimova — Chita State Medical Academy of the Ministry of Public Health of Russia. E-mail: olgamax71@mail.ru

E.P. Matsekha — Transbaical Regional Oncologic Dispensary, Chita. E-mail: matsekha@mail.ru

A.S. Panchenko — Chita State Medical Academy of the Ministry of Public Health of Russia. E-mail: sashawomen18@mail.ru

N.V. Stepanova — Transbaical Regional Oncologic Dispensary, Chita. E-mail: chitinkanata@mail.ru

Доктор.ру
6 December 17:14
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