Myelodysplastic features in an infant with cystic fibrosis presenting with anaemia, oedema and failure to thrive
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SHO RT REPOR T
Christian Peter Kratz Æ Tim Rogge Æ Matthias Kopp Irith Baumann Æ Charlotte Marie Niemeyer
Myelodysplastic features in an infant with cystic fibrosis presenting with anaemia, oedema and failure to thrive
Received: 16 June 2004 / Revised: 20 August 2004 / Accepted: 24 August 2004 / Published online: 23 October 2004 Springer-Verlag 2004
Myelodysplastic changes in peripheral blood or bone marrow cells are observed in patients with a variety of heterogeneous non-malignant and malignant conditions such as viral infections, vitamin deficiencies, metabolic diseases, congenital bone marrow failure syndromes, myelodysplastic syndromes (MDS) and acute leukaemia. However, myelodysplastic features in the bone marrow of patients with cystic fibrosis (CF) have not yet been described. We describe an infant with CF presenting with anaemia. Bone marrow investigation revealed myelodysplastic changes in precursor cells of all three lineages. A 2.5-month-old breast-fed male born at term to non-consanguineous healthy white parents was referred to our hospital for assessment of poor weight gain, anaemia, oedema and hypoproteinaemia. At birth, he weighed 2850 g (10th–50th percentile) with a birth length of 50 cm (50th percentile). At the age of 8 weeks, the parents noted swelling of both upper eyelids and lower extremities. He was admitted to a local hospital where he was found to have a haemoglobin (Hb) concentration of 6.7 g/dl with a mean cellular volume (MCV) of 92 fl. The antiglobulin test was negative. Serum protein and albumin were 3.3 g/dl and 1.9 g/dl, respectively. Vitamin B6 and B12 levels were normal. He was treated with intravenous albumin and transferred to our hospital. Physical examination revealed a pale infant in no distress with oedema of both feet. He weighed 3640 g (360 g below the 3rd percentile) with a length of 54 cm (10th percentile). A chest X-ray film and abdominal ultrasound imaging were normal. Laboratory
investigations revealedthe following: Hb 5.9 g/dl, MCV 95 fl, reticulocyte count 298·109/l, white blood count 12·109/l with a normal differential count (neutrophils 44%) and platelets 408·109/l. Red cell morphology showed aniso- and poikilocytosis and polychromasia. The total bilirubin level was 2.0 mg/dl with a direct bilirubin level of 0.3 mg/dl. The lactate dehydrogenase concentration was normal. The bone marrow aspirate showed a reduced cellularity, moderate myelodysplastic changes of all three cell lines (Fig. 1) and a slight increase in blast percentage (8%). Although the described changes fulfilled the recently published minimal criteria for childhood MDS [2], failure to thrive with hypoproteinaemia suggested CF instead. The sweat test with an increased chloride level was diagnostic and mutation analysis uncovered a homozygous delta F508 mutation in the CFTR gene. Pancreatic enzyme replacement and supplementation
C. P. Kratz (&) Æ T. Rogge Æ M. Kopp Æ C. M. Niemeyer Department of Paediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany E-mail: [email protected]
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