Congenital Pelger-Huët anomaly in a Danish/Swedish Farmdog: case report.

A 13 year old Danish/Swedish Farmdog from Denmark was evaluated in a veterinary clinic in Warsaw, Poland for evaluation of an orthopedic problem. Radiographs revealed spondylosis and degenerative vertebral disease, which responded to treatment with anti-inflammatory medications. A predominance of hyposegmented neutrophils and eosinophils containing condensed chromatin and normal cytoplasm were identified on a routine CBC. Follow-up blood film evaluations over the course of 12 months confirmed that the hyposegmented granulocytes persisted. The majority of neutrophils contained Grade 2 nuclei (slightly indented), and the mean nuclear score varied from 1.9 to 2.3. Pelger-Huët anomaly (PHA), presumably congenital, was diagnosed based on persistent hyposegmented granulocytes in the absence of an underlying cause for acquired PHA; genetically related dogs were unavailable for testing to confirm vertical transmission. To the authors' knowledge this is the first report of PHA in a Danish/Swedish Farmdog.

Congenital Pelger-Huët anomaly in a horse.

A 1.5-year-old male Arabian horse was referred to the Louisiana State University Veterinary Teaching Hospital and Clinic for an open deep laceration involving two thirds of the right trunk. The initial CBC results included an inflammatory leukogram, characterized by a marked degenerative left shift consisting of only immature band neutrophils (7500/microL, reference interval 0-100/microL) with toxic changes and no segmented neutrophils (0/microL, reference interval 2700-6700/microL). On abdominal ultrasonography, free abdominal fluid was found and collected for analysis. Abdominal fluid had a marked increase in total nucleated cells (40,600 cells/microL) consisting of 74% nondegenerate neutrophils that all were hyposegmented, with mature condensed chromatin. Re-evaluation of neutrophil morphology on the initial blood smear confirmed hyposegmentation and mature condensed chromatin, similar to that observed in cells in the abdominal fluid. A diagnosis of Pelger-Huët anomaly (PHA) was made in this colt. Congenital PHA was documented on the basis of persistent neutrophil hyposegmentation on serial blood smears, ruling out of acquired causes of PHA, and findings of similar neutrophil hyposegmentation on blood smears from the colt's sire and the sire's siblings. To our knowledge, this is the first reported case of congenital PHA in a horse.

Effects of G-CSF, GM-CSF, and IL-5 on nuclear segmentation of neutrophils and eosinophils in congenital or acquired Pelger-Huët anomaly.

We studied the in vitro effects of granulocyte colony-stimulating factor (G-CSF), granulocyte-macrophage colony-stimulating factor (GM-CSF), and interleukin 5 (IL-5) on nuclear segmentation of neutrophils and eosinophils from three patients with congenital or acquired Pelger-Huët anomaly. After a 24-h incubation with G-CSF, the majority of neutrophils showed nuclear development characterized by a bilobed appearance. In contrast to neutrophils, the nuclear segmentation of eosinophils was not induced after incubation with G-CSF, GM-CSF, or IL-5. These results suggest that G-CSF plays some role in the nuclear development of neutrophils, whereas IL-5 may not have such an effect on eosinophil maturation in the individual cases studied.

Erythrocyte pyruvate kinase deficiency. A case of severe congenital hemolytic anemia.

Although it occurs rarely, erythrocyte pyruvate kinase deficiency is a cause of neonatal jaundice and anemia across many ethnic and geographic groups. In this report of a Missouri case, an infant with this condition was also found to have Pelger-Huet leukocyte anomaly.

Congenital Pelger-Huet anomaly in triplets.

Congenital Pelger-Huet anomaly is an autosomal dominant disorder characterized by incomplete nuclear segmentation of granulocytes. The morphology of these mature but hyposegmented granulocytes may be confused with that of immature granulocytes (bands), thereby suggesting bacterial infection. We report the first known case of triplets with this condition, and emphasize the need to identify accurately this normal variant.

Functional and metabolic studies of polymorphonuclear leukocytes in the congenital Pelger-Huet anomaly.

Polymorphonuclear leukocytes (PMNL) from two individuals with congenital Pelger-Huet anomaly (PHA) were examined to determine whether functional or metabolic defects accompanied the known morphological abnormality. No abnormalities of the PHA cells, as compared to normal control cells, were found when tested for quantitative leukocyte enzyme activities, nitroblue tetrazolium reduction, hexose monophosphate shunt activity, superoxide production, generation of chemiluminescence, or iodination. The PHA cells, as compared to normal PMNL, demonstrated normal chemotaxis and random migration, as well as bactericidal activity.

Ultrastructural features of the blood cells in a patient with Pelger-Huët anomaly.

A case of congenital Pelger-Hüet anomaly of the peripheral blood cells is described. Electronmicroscopic examination of the blood cells revealed nuclear bridges and appendices in the polymorphonuclear leukocytes. The number of cytoplasmic granules was diminished, but the size of the secondary granules was markedly increased. The eosinophils showed pronounced polymorphism of the granules, and the platelets showed a decrease in the alpha-granulomere number.