Late onset of isovaleric acidemia presenting with bicytopenia / Bisitopeni ile birliktelik gosteren gec baslangicli izovalerik asidemi

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From: Turkish Journal of Hematology(Vol. 27, Issue 3)
Publisher: Galenos Yayinevi Tic. Ltd.
Document Type: Article
Length: 1,045 words
Lexile Measure: 1010L

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To the Editor,

Isovaleric academia (WA) is an autosomal recessive inborn error of leucine metabolism caused by a deficiency of isovaleryl-CoA dehydrogenase. In the acute phase of this disease, thrombocytopenia, neutropenia or pancytopenia may be common features (1-4). However, the physiopathology of the bone marrow suppression in this disease is still unclear. Here, we report the case of an IVA patient who presented with thrombocytopenia and neutropenia at the age of 31 months.

A 31-month-old male patient had been admitted to our hospital with fever, vomiting, fatigue, and loss of appetite. There was no history of any drug use. On physical examination, the patient was lethargic. Vital signs were normal except for mild tachycardia and tachypnea. Skin turgor and tonus were found to be decreased.

The results of a complete blood count revealed the following: white blood cells (WBC) count 1.4 x [10.sup.9]/L; absolute neutrophil count 0.92 x [10.sup.9]/L; hemoglobin 11 g/dl; and platelet count 57.5 x [10.sup.9]/L. The bone marrow aspiration showed normal maturation of three lineages without any hemophagocytosis, megaloblastic cells, extramyeloid cells, fatty changes, or myelodysplasia. There were numerous necrotic cells. The number and the morphology of megakaryocytes were normal. In the aspiration smear, 18% myelocyte, 35% metamyelocyte, 11% polymorphonuclear leukocyte, 28% lymphocyte, 2% normoblast, 1% monocyte, 1% eosinophil, and 4% lymphoblast-like cells were present. Bone marrow flow cytometry did not reveal lymphoblasts. Biochemical analyses were within normal limits except for hypocalcemia, hyperammonemia, and mildly increased aspartate aminotransferase and lactate dehydrogenase. Serum C-reactive protein and erythrocyte sedimentation rate were in normal range. Ketonuria was determined. The results of...

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Gale Document Number: GALE|A305584230