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Pelger-Huet anomaly
Pathology:
- failure of normal segmentation of granulocytic nuclei
- apparently looser chromatin structure of neutrophils
- heterozygotes show hypolobulated neutrophil nuclei with coarse chromatin
- presumed homozygous individuals have ovoid neutrophil nuclei
Genetics:
- autosomal dominant
- associated with defects in LBR
Clinical manifestations:
- heterozygotes are asymptomatic
- presumed homozygous individuals show varying degrees of developmental delay, epilepsy, & skeletal abnormalities
Laboratory:
- peripheral blood smear
- bilobed neutrophils are abundant; these are not normal band forms, but mature neutrophils; they are functionally normal neutrophils
- in the acquired form, mature neutrophils with round, non-segmented nuclei may also be found
- Pelger Huet cells in blood
- pseudo Pelger Huet cells in blood
Differential diagnosis:
- similarly appearing bilobed neutrophils resulting from an acquired disorder of granulocytic nuclear segmentation may occur with:
a) granulocytic leukemia
b) myeloproliferative disorders
c) myelodysplastic syndrome
d) some infections
5) certain drugs
- neutrophilic band
General
congenital anomaly (birth defect)
abnormal morphologic structure (malformation)
References
- Clinical Diagnosis & Management by Laboratory Methods,
19th edition, J.B. Henry (ed), W.B. Saunders Co.,
Philadelphia, PA. 1996, pg 668
- Medical Knowledge Self Assessment Program (MKSAP) 11, American
College of Physicians, Philadelphia 1998