Myelodysplastic syndrome in a patient with familial Pelger-Huet anomaly]

This paper reports on a patients with congenital Pelger-Huet anomaly who developed myelodysplastic syndrome (MDS). A 45-year-old female was referred for investigation of pancytopenia of 6 months' duration. Hereditary Pelger-Huet anomaly was diagnosed by family study 7 years prior to admission. On admission, Hb was 6.5 g/dl, Ht 19.9%, Platelets 1.8 x 10(4)/microliters, and WBC 1,200/microliters with 2% myelocytes, 9% metamyelocytes, 14% bands, 2% segmented neutrophils, 58% lymphocytes and 5% monocytes. Most of the granulocytes were Pelger-Huet type with strikingly clumped nuclear chromatin. Bone marrow aspirate demonstrated 3.6% blasts and dysplastic changes including megaloblastoid features in erythroid series and micro-megakaryocytes compatible with refractory anemia, a subtype of MDS. The association of hereditary Pelger-Huet anomaly and MDS is discussed.     

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.     

Association of acquired Pelger-Huet anomaly with taxoid therapy

We describe the occurrence of acquired Pelger-Huet anomaly (APHA) in 23 patients treated with paclitaxel (13) or docetaxel (10). A consistent peak of Pelger-Huet cells (PHC) within a range of 3–9d after treatment with taxoids was noted. The APHA generally disappeared by day 21 after treatment. Peak PHC values for the first course were significantly different in paclitaxel versus docetaxel versus control groups ( P <0.0001) with the maximum PHC counts being significantly higher for docetaxel compared with paclitaxel ( P <0.001) and for paclitaxel compared with controls ( P =0.007). We conclude that taxoid therapy produces transient APHA which peaks between days 3 and 9 and is more pronounced with docetaxel than with paclitaxel.     

Pelger-Huet anomaly in an infant with multiple congenital anomalies

We report a new case of Pelger-Huet anomaly (PHA) evident from the first day of life in an infant with multiple congenital anomalies suggestive of Fryn syndrome. The infant's parents are not affected by PHA, raising the possibility that the PHA resulted from a spontaneous mutation.     

Pelger-Huet anomaly of granulocytes in a patient with tuberculosis

The association of abnormal granulocyte nuclear formation and tuberculosis was first reported by Pelger in 1928. Huet, however, concluded this defect was hereditary, and the association of Pelger-Huet anomaly (PHA) of granulocytes and tuberculosis was obscured for many years. We report the second patient in the English literature with severe tuberculous infection and PHA, further substantiating the diagnostic and prognostic importance of PHA and tuberculosis.     

Transfer of Pelger-Huet anomaly by bone marrow transplantation

A marrow transplant was performed on a patient with refractory acute myelomonocytic leukemia using marrow from a sibling donor with congenital Pelger-Huet anomaly (P-H). The patient, free of P-H prior to transplant, subsequently acquired the anomaly, thus providing a useful means of demonstrating engraftment of donor cells.     

Acquired Pelger-Huet anomaly in a case of non-Hodgkin's lymphoma

Acquired Pelger-Huet anomaly has been found in association with both hematologic and nonhematologic diseases. While its association with myeloid hematologic disorders is well known, this granulocytic anomaly has also been found in chronic lymphocytic leukemia, multiple myeloma and Hodgkin's disease. This report describes a case of acquired Pelger-Huet anomaly in non-Hodgkin's lymphoma and reviews the association of this anomaly with both lymphoid and myeloid hematologic disorders.     

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.     

Double-outlet right ventricle with intact ventricular septum in a foetus with trisomy-18.

A rare case of double-outlet right ventricle with intact ventricular septum diagnosed by foetal echocardiography at 21 weeks of gestation is described. Amniocentesis revealed trisomy-18. The cardiac diagnosis was confirmed at autopsy.     

Cardiac malformations in trisomy-18: a study of 41 postmortem cases

The cardiac malformations in 41 karyotyped and autopsy cases of trisomy-18 are presented in detail. The salient findings were a ventricular septal defect in all cases; tricuspid valve anomalies in 33 cases (80%); pulmonary valve anomalies in 30 (70%); aortic valve malformations in 28 (68%); mitral valve anomalies in 27 (66%); polyvalvular disease (that is, malformations of more than one valve) in 38 (93%); a subpulmonary infundibulum (conus) in 40 (98%); a bilateral conus with a short subaortic infundibulum in 1 case with double outlet right ventricle (this being the only documented case of bilateral infundibulum in trisomy-18); double outlet right ventricle in 4 cases (10%), three having a subpulmonary infundibulum only and all 4 having mitral atresia; tetralogy of Fallot in 6 cases (15%), 2 having pulmonary atresia; and a striking absence of transposition of the great arteries and inversion at any level (visceral or cardiac), findings that appear to be characteristic of all trisomies. These data suggest that excessive chromosomal material (as in trisomies) may result in situs solitus at all levels. The malformations of the atrioventricular and semilunar valves were characterized by redundant or thick myxomatous leaflets, long chordae tendineae and hypoplastic or absent papillary muscles. The ventricular septal defect was associated with anterosuperior conal septal malalignment in 25 cases (61%). On the basis of the characteristic valvular lesions, the type of ventricular septal defect and the absence of transposition or inversions, two-dimensional echocardiographic diagnosis of trisomy-18 in the fetus may become possible.     

Ebstein's anomaly with the Wolff-Parkinson-White syndrome

Thirty-three patients were studied with Ebstein's anomaly, associated to Wolff-Parkinson-White syndrome with the purpose of analyze their electrophysiologic characteristics. In this patients the right preexcitation was before the activation of the right ventricle mass, overshadowing the manifestations of the right bundle branch block (usual in patients with Ebstein's anomaly without preexcitation). In conclusion the absence of manifestations of right bundle branch block in the presence of Ebstein's anomaly diagnosed by hemodynamic study or echocardiography let us think in the coexistence of the preexcitation and suggest the pertinent electrophysiologic study; as the association of supraventricular tachycardia in this group is very high (94%) most of them paroxysmal orthodromic tachycardia.     

Abnormal cluster formation in a patient with myelodysplastic syndrome with trisomy-11--periodical approach by colony assay

59 year old female was admitted to Nagoya Memorial Hospital for anemia unknown etiology after the work up of the gastrointestinal tract. Peripheral blood count at admission was as follows: WBC 2,400/microliters, RBC 321 X 10(4)/microliters, Hb 9.8 g/dl, Ht 30.1%, Plt 8.2 X 10(4)/microliters, which showed pancytopenia with normocytic, normochromic anemia. She had no hepatosplenomegaly, vitamin B12 nor folate deficiency. Bone marrow was hyperplastic and showed trilineage megalodysplastic changes. The diagnosis of myelodysplastic syndrome (Refractory anemia) was made. Progenitor assay showed no colony formation of BFU-E but showed normal growth of CFU-GM colony and cluster. She had chromosomal abnormality of 47, XX, + 11. Administrated anabolic steroid, prednine and activated vitamin D3 were not effective and she died of brain hemorrhage in April 1987. Colony assay at this stage showed numerous leukemic clusters and no normal colonies. Re-performed chromosome assay showed 47, XX, + 11. There are only a few reports of trisomy-11 in a patient with MDS. Especially we could follow this case till her leukemic transformation by colony assay.     

The Alder-Reilly anomaly in association with the myelodysplastic syndrome

We describe the Alder-Reilly morphological abnormality in an elderly man with a myelodysplastic syndrome (MDS). The literature pertaining to abnormal neutrophil hypergranulation is reviewed and the possible role of myelodysplasia in its causation is discussed.     

The Pelger-Huet Anomaly and Megaloblastic Anemia

A patient is described with addisonian pernicious anemia and with thePelger-Huët anomaly of leukocytes. Before the patient was treated withvitamin B₁₂, her peripheral blood contained three- and four-lobed neutrophils,but with therapy almost all the neutrophils showed the characteristic bilobedform of the Pelger-Huët anomaly. Before treatment the sex chromatin appendage was present in the neutrophils in normal numbers, but these could notbe identified after treatment.

Submitted on February 21, 1963 Accepted on May 1, 1963