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Pelger-Huët Chediak-Higashi Alder-Reilly Muco-polysaccharidosis Hurler’s and Hunter’s May-Hegglin Myeloperoxidase deficiency. Lipid storage disorder Gaucher’s Niemann-Pick Tay-Sach’s Fabry’s Sea-blue histiocytosis. Week 9: Congenital WBC Problems. Pelger-Huët Anomaly.

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week 9 congenital wbc problems
Pelger-Huët

Chediak-Higashi

Alder-Reilly

Muco-polysaccharidosis

Hurler’s and Hunter’s

May-Hegglin

Myeloperoxidase deficiency

Lipid storage disorder

Gaucher’s

Niemann-Pick

Tay-Sach’s

Fabry’s

Sea-blue histiocytosis

Week 9: Congenital WBC Problems
pelger hu t anomaly
Pelger-Huët Anomaly
  • Autosomal dominant
  • 1:5,000
  • Benign
  • Hypolobulation of PMN, pince-nez
  • What is a band?
  • Pseudo PH in myelodysplasia (MDS) and some infection
chediak higashi disease
Chediak-Higashi Disease
  • Rare autosomal recessive
  • Abnormal lysosome: myeloperoxidase positive fused 1o granules
  • Impaired PMN locomotion
  • Hypopigmentation, photophobia
  • Usually die at 5-10 years of age due to opportunistic and pyrogenic infections
alder reilly anomaly
Alder-Reilly Anomaly
  • Mucopolysaccharidosis
  • Autosomal recessive
  • Hurler’s and Hunter’s diseases
  • Azurophilic granules in one or all cell types
  • Vacuolated lymphocytes with granules or “comma”
  • Resemble toxic granulations
may hegglin anomaly
May-Hegglin Anomaly
  • Rare autosomal dominant
  • Döhle-like inclusions
  • Thrombocytopenia and giant platelets and few granules (cause of bruises)
myeloperoxidase deficiency
Myeloperoxidase deficiency
  • Autosomal recessive
  • Enzyme is one of bacterial killing pathway, but usually benign because other PMN biochemistry fight infection
  • H2O2 HOCl (hypochlorite)
  • Abnormal pattern in MPO based instrument (eg, Technicon H-1)
  • Acquired form in some AML, CML and MDS
gaucher s disease
Gaucher’s Disease
  • A kind of lipid storage disease
  • -glucocerebrosidase deficiency
  • Macrophage (wrinkled, striated) with lipid in lymph nodes, spleen, liver
  • Type 2 (infantile) and type 3 (juvenile) have worse prognosis
  • Type 1 (adult) can live longer
  • Pseudo-Gaucher cell seen in CML with cholesterol from cell turn over
niemann pick disease
Niemann-Pick Disease
  • Sphingomyelinase deficiency
  • Foamy macrophages with ceroid and sphingomyelin
  • Many seen in Ashkenazic Jews
  • Commonly fatal by 3 years
  • Vacuolated lymphocytes and monocytes
tay sach s disease
Tay-Sach’s Disease
  • Recessive
  • -hexosaminidase deficiency
  • Accululation of gangliosides and glycolipids
  • Affect CNS
fabry s disease
Fabry’s Disease
  • X-linked recessive sphyngolipidosis
  • -galactosidase deficiency
  • Ceramide trihexose in kidneys
  • Renal failure, purpuric skin lesions, CNS symptoms
histiocytosis
Histiocytosis
  • Sea-blue histiocytosis
    • Mostly benign
    • Cerebroside and carbohydrate accumulation
  • Histiocytes with ceroid pigments