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Pelger-Huet Anomaly

PHA


Presentation

  • A 6-month-old male mixed-breed dog weighing 12.6 kg weight was presented for evaluation of a subcutaneous nodule on the dorsum.[ncbi.nlm.nih.gov]
  • A case report of agnogenic myeloid metaplasia (AMM) is presented in which a patient had a preliminary 18-month period characterized by leukemoid reactions to repeated infections alternating with normal health, throughout which an acquired Pelger-Huët[ncbi.nlm.nih.gov]
  • Complete blood cell count from a dog with Pelger-Huët anomaly at initial presentation (sample 1), 17 (sample 2), and 120 days (sample 3) post diagnosis. Hematology data from the dam also is presented and is consistent with Pelger-Huët anomaly.[doi.org]
  • During antimetabolite maintenance therapy with 6-mercaptopurine and methotrexate the ALI was 1.87 and three-lobed forms were present.[ncbi.nlm.nih.gov]
  • A case report is presented of an 83-year-old male patient with respiratory distress, body temperature of 38.5 degrees C, bilateral white infiltrates on chest X-ray and ECG showing acute myocardial infarction.[ncbi.nlm.nih.gov]
Epilepsy
  • Presumed homozygous individuals have ovoid neutrophil nuclei, as well as varying degrees of developmental delay, epilepsy and skeletal abnormalities.[ncbi.nlm.nih.gov]
  • Preferred Name Pelger-Huet Anomaly [Disease/Finding] Synonyms Pelger-Huët Nuclear Anomaly ID altLabel Pelger-Huët Nuclear Anomaly Pelger-Huet Nuclear Anomaly Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities Pelger-Huet[purl.bioontology.org]
  • PREFERRED TERM Pelger-Huet Anomaly ENTRY TERMS Anomaly, Pelger-Huët Anomaly, Pelger-Huet Nuclear Anomaly, Pelger-Huët Nuclear Nuclear Anomaly, Pelger-Huet Nuclear Anomaly, Pelger-Huët Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal[finto.fi]
  • Treatment - Pelger-Huet anomaly Generally, treatment of epilepsy consists of anticonvulsant therapy to reduce the number of future seizures.[checkorphan.org]
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.[ncbi.nlm.nih.gov]
  • Journal Article 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.[scholars.duke.edu]
Icelandic Families
  • Abstract All five members of one generation in an Icelandic family were affected by acute myeloid leukaemia or preleukaemia. Two sibs died of acute myeloid leukaemia and another of myelofibrosis associated with leukaemic changes.[ncbi.nlm.nih.gov]
Myxedema
  • The morphologic changes have also been described in myxedema associated with panhypopituitarism, vitamin B12 and folate deficiency, multiple myeloma, enteroviral infections, malaria, muscular dystrophy, leukemoid reaction secondary to metastases to the[en.wikipedia.org]
Abdominal Pain
  • Abstract A family has previously been described in which four members with Pelger-Huët (P-H) anomaly suffered from recurrent attacks of abdominal pain and fever, while one member, whose polymorphonuclear leucocytes (PMNs) were also hyposegmented, was[ncbi.nlm.nih.gov]
Subcutaneous Nodule
  • A 6-month-old male mixed-breed dog weighing 12.6 kg weight was presented for evaluation of a subcutaneous nodule on the dorsum.[ncbi.nlm.nih.gov]
  • A 6-month-old male mixed-breed dog weighing 12.6 kg was presented to the veterinary hospital at the Universidade Federal Rural do Semi-Árido, Mossoró, Rio Grande do Norte, Brazil, for evaluation of a subcutaneous nodule on the dorsum.[doi.org]
Short Arm
  • An enlarged short arm of chromosome 22 (22p ) was found in 14 cases, but in these families 4 cases without P-H anomaly did not show 22p in the karyotype.[ncbi.nlm.nih.gov]
Confusion
  • The morphology of these mature but hyposegmented granulocytes may be confused with that of immature granulocytes (bands), thereby suggesting bacterial infection.[ncbi.nlm.nih.gov]
  • This iatrogenic neutrophilic dysplasia is reversible with cessation or adjustment of medications but is frequently confused with myelodysplastic syndrome (MDS) based on the conventional concept that PPHA is a marker for dysplasia .[ncbi.nlm.nih.gov]
  • Recognizing this anomaly can avoid confusion with a leukocyte ‘left shift’, supporting the dictum to ‘treat the patient…not the laboratory test’. References 1. CDC. Prevention of perinatal group B streptococcal disease. Revised guidelines from CDC.[nature.com]

Workup

  • This article relates the history of the Pelger-Huet anomaly as well as describes the clinical significance and diagnostic workup for the finding of a Pelger-Huet cell on peripheral smear.[ncbi.nlm.nih.gov]
  • The patient underwent a complete diagnostic workup, including a physical examination, blood work, and stool studies. On physical examination, the girl’s vital signs were stable, and she was in no apparent distress.[consultant360.com]
  • Workup Laboratory Studies The diagnosis of Pelger-Huët anomaly (PHA) is based on the morphologic characteristics of the neutrophils observed on peripheral blood film examination.[emedicine.medscape.com]
  • This article relates the history of the Pelger‐Huet anomaly as well as describes the clinical significance and diagnostic workup for the finding of a Pelger‐Huet cell on peripheral smear. Am. J. Hematol., 2009. 2008 Wiley‐Liss, Inc.[doi.org]
Glycosuria
  • In addition to glycosuria and increased serum creatinine levels, Pelger-Huët anomaly of granulocytes was found in her blood, which disappeared after discontinuation of tacrolimus.[ncbi.nlm.nih.gov]

Treatment

  • Hyposegmentation can be due to mutations in the LBR-gene (Pelger-Huët-Anomaly) or can be induced, for example, by colchicine treatment.[ncbi.nlm.nih.gov]
  • A consistent peak of Pelger-Huet cells (PHC) within a range of 3-9 d after treatment with taxoids was noted. The APHA generally disappeared by day 21 after treatment.[ncbi.nlm.nih.gov]
  • This unique association was investigated through trial observations of the peripheral blood smear and bone marrow obtained during the child's treatment with chemotherapy.[ncbi.nlm.nih.gov]
  • These hematological presentations on the peripheral smear all resolved with doxycycline treatment, implying that the changes were most likely reactive manifestations secondary to HGA, rather than underlying hematological malignancies such as MDS or AML[ncbi.nlm.nih.gov]
  • Treatment - Pelger-Huet anomaly Generally, treatment of epilepsy consists of anticonvulsant therapy to reduce the number of future seizures.[checkorphan.org]

Prognosis

  • Prognosis - Pelger-Huet anomaly The \'prognosis\' of Pelger-Huet anomaly usually refers to the likely outcome of Pelger-Huet anomaly.[checkorphan.org]
  • DISCUSSION In 1928, Karl Pelger, a Dutch tuberculosis specialist, made this observation about the appearance of neutrophils in the peripheral smears of severely ill patients with disseminated tuberculosis and associated it with a poor prognosis: “These[consultant360.com]

Epidemiology

  • Some patients with HEM skeletal dysplasia have neutrophils with features of PHA, and some patients with PHA have mild skeletal anomalies. [6, 15, 16] Epidemiology Frequency United States The prevalence rate in the United States is estimated as 1 case[emedicine.com]
  • The Pelger Anomaly: Genetic, Cytologic and Epidemiologic Aspects of Some Data from Sweden. Thesis, Uppsala Univ. (1963). 14 Skendzel, L.P. & Hoffman, G.C. The Pelger anomaly of leukocytes: forty-one cases in seven families. Am. J. Clin.[doi.org]
Sex distribution
Age distribution

Pathophysiology

  • In this review, we give an overview of the main pathophysiological, clinical, morphological and functional aspects of PHA. Furthermore, we highlight the importance of a comprehensive approach to the assessment of this laminopathy.[ncbi.nlm.nih.gov]
  • […] disorder. [2] Distinguishing this benign autosomal dominant disorder from acquired or pseudo–Pelger-Huët anomaly, which can be observed in individuals with myeloid leukemia, myelodysplasia, and bi-lineage acute lymphocytic leukemia, is important. [3] Pathophysiology[emedicine.com]

Prevention

  • Cyclosporine and methotrexate were administered to prevent graft-versus-host disease (GVHD). However, grade III acute GVHD developed on day 44, which was successfully treated with methylprednisolone and tacrolimus.[ncbi.nlm.nih.gov]
  • Prevention - Pelger-Huet anomaly Not supplied. Diagnosis - Pelger-Huet anomaly Not supplied. Prognosis - Pelger-Huet anomaly The \'prognosis\' of Pelger-Huet anomaly usually refers to the likely outcome of Pelger-Huet anomaly.[checkorphan.org]
  • Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive[jamanetwork.com]
  • Prevention of perinatal group B streptococcal disease. Revised guidelines from CDC. MMWR. Centers for Disease Control and Prevention, Atlanta, GA, 19 November 2010; 59. CDC, 10. 2. Manroe BL, Rosenfeld CR, Weinberg AG, Browne R.[nature.com]

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