Week 9: Congenital WBC
Problems
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Pelger-Huët
Chediak-Higashi
Alder-Reilly
Mucopolysaccharidosis
Hurler’s and Hunter’s
May-Hegglin
Myeloperoxidase
deficiency
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Lipid storage disorder
Gaucher’s
Niemann-Pick
Tay-Sach’s
Fabry’s
Sea-blue histiocytosis
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
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Pelger-Huët Anomaly
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
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Chediak-Higashi 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
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Alder-Reilly Anomaly
May-Hegglin Anomaly
Rare autosomal dominant
 Döhle-like inclusions
 Thrombocytopenia and giant platelets and
few granules (cause of bruises)
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May-Hegglin Anomaly
Myeloperoxidase deficiency
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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
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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
Gaucher’s 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
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Niemann-Pick Disease
Tay-Sach’s Disease
Recessive
 -hexosaminidase deficiency
 Accululation of gangliosides and
glycolipids
 Affect CNS
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Fabry’s Disease
X-linked recessive sphyngolipidosis
 -galactosidase deficiency
 Ceramide trihexose in kidneys
 Renal failure, purpuric skin lesions, CNS
symptoms
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Histiocytosis
Sea-blue histiocytosis
 Mostly benign
 Cerebroside and carbohydrate
accumulation
 Histiocytes with ceroid pigments
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