Niedokrwistość Blackfana i Diamonda z towarzyszącą replikacją parwowirusa B19. Opis przypadku

Abstract

p e d i a t r i a p o l s k a 9 0 ( 2 0 1 5 ) 2 5 1 -2 5 5 i n f o r m a c j e o a r t y k u l e Historia artykułu: Otrzymano: 02.02.2015 Zaakceptowano: 27.03.2015 Dostępne online: 08.04.2015 Słowa kluczowe: niemowlę anemia niedokrwistości wrodzone cechy dysmorficzne Keywords: Infant Anaemia Congenital anaemia Dysmorphic features a b s t r a c t Anaemia is one of the most common haematological problems in infants. Diagnosis of anaemia is based on anamnesis, the results of physical examination and basic laboratorytests. During infancy, one of the main causes of anaemia is iron deficiency but in some cases haematopoiesis can be hampered by myeloproliferative disease, congenital or acquired bone marrow failure, too. This paper presents a case report of a 6-month-old girl with typical dysmorphic features. Initially the girl was diagnosed with iron-deficiency anaemia, due to suspected chronic gastrointestinal bleeding, as a result of cow's milk protein allergy. A replication of Parvovirus B19 was found in peripheral blood and bone marrow. After therapy with iron supplementation, milk-free diet and intravenous immunoglobulins, her haematological parameters have not improved and the girl required multiple packed red blood cell transfusions. After additional testing, the patient was diagnosed with Diamond-Blackfan anaemia, and was treated with prednisone, which led to improvement and transfusion independence. This case illustrates the need for accurate diagnosis even in common paediatric ailments.