Details

Autor(en) / Beteiligte

• Sayın, Seçil
• Ünal, Şule
• Çetin, Mualla
• Gümrük, Fatma
• Küçükkaya,Reyhan

Titel

Vacuolization in Myeloid and Erythroid Precursors in a Child with Menkes Disease

Ist Teil von

• Turkish journal of haematology, 2019-08, Vol.36 (3), p.203-204

Ort / Verlag

Turkey: Türk Hematoloji Derneği

Erscheinungsjahr

2019

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• A 5-year-old boy who was in follow-up with a clinical and biochemical diagnosis of Menkes disease (MD) since 10 months of age was admitted with diarrhea. On examination he had a characteristic cherubic face, hypopigmented and sparse hair, hepatosplenomegaly, and hypotonia with brisk deep tendon reflexes. A complete blood count revealed the following: hemoglobin, 5.5 g/dL; hematocrit, 16.2%; red blood cells, 1.69x1012/L; mean corpuscular volume, 95.8 fL; mean corpuscular hemoglobin, 32.3 pg; red blood cell distribution width, 19.2%; white blood cells, 2.2x109/L; and platelet count, 157x109/L. Serum vitamin B12 level was 575 pg/mL. Serum copper level was 81 μg/dL and serum zinc level was 152 μg/dL. Peripheral blood smear revealed 34% polymorphonuclear leukocytes, 62% lymphocytes, and 4% monocytes. Bone marrow examination revealed normocellular marrow with megaloblastic changes and widespread cytoplasmic vacuolization in myeloid and erythroid progenitors.