Post on 22-Dec-2015
Week 9: Congenital WBC Problems Pelger-HuëtPelger-Huët Chediak-HigashiChediak-Higashi Alder-ReillyAlder-Reilly Muco-Muco-
polysaccharidosispolysaccharidosis Hurler’s and Hunter’sHurler’s and Hunter’s May-HegglinMay-Hegglin Myeloperoxidase Myeloperoxidase
deficiencydeficiency
Lipid storage disorderLipid storage disorder Gaucher’sGaucher’s Niemann-PickNiemann-Pick Tay-Sach’sTay-Sach’s Fabry’sFabry’s Sea-blue histiocytosisSea-blue histiocytosis
Pelger-Huët Anomaly
Autosomal dominantAutosomal dominant 1:5,0001:5,000 BenignBenign Hypolobulation of PMN, pince-nezHypolobulation of PMN, pince-nez What is a band?What is a band? Pseudo PH in myelodysplasia (MDS) and Pseudo PH in myelodysplasia (MDS) and
some infectionsome infection
Chediak-Higashi Disease
Rare autosomal recessiveRare autosomal recessive Abnormal lysosome: myeloperoxidase Abnormal lysosome: myeloperoxidase
positive fused 1positive fused 1oo granules granules Impaired PMN locomotionImpaired PMN locomotion Hypopigmentation, photophobiaHypopigmentation, photophobia Usually die at 5-10 years of age due to Usually die at 5-10 years of age due to
opportunistic and pyrogenic infectionsopportunistic and pyrogenic infections
Alder-Reilly Anomaly
MucopolysaccharidosisMucopolysaccharidosis Autosomal recessiveAutosomal recessive Hurler’s and Hunter’s diseasesHurler’s and Hunter’s diseases Azurophilic granules in one or all cell typesAzurophilic granules in one or all cell types Vacuolated lymphocytes with granules or Vacuolated lymphocytes with granules or
“comma”“comma” Resemble toxic granulationsResemble toxic granulations
May-Hegglin Anomaly
Rare autosomal dominantRare autosomal dominant Döhle-like inclusionsDöhle-like inclusions Thrombocytopenia and giant platelets and Thrombocytopenia and giant platelets and
few granules (cause of bruises)few granules (cause of bruises)
Myeloperoxidase deficiency
Autosomal recessiveAutosomal recessive Enzyme is one of bacterial killing pathway, but Enzyme is one of bacterial killing pathway, but
usually benign because other PMN biochemistry usually benign because other PMN biochemistry fight infectionfight infection
HH22OO22 HOCl (hypochlorite) HOCl (hypochlorite)
Abnormal pattern in MPO based instrument (eg, Abnormal pattern in MPO based instrument (eg, Technicon H-1)Technicon H-1)
Acquired form in some AML, CML and MDSAcquired form in some AML, CML and MDS
Gaucher’s Disease
A kind of lipid storage diseaseA kind of lipid storage disease -glucocerebrosidase deficiency-glucocerebrosidase deficiency Macrophage (wrinkled, striated) with lipid in Macrophage (wrinkled, striated) with lipid in
lymph nodes, spleen, liverlymph nodes, spleen, liver Type 2 (infantile) and type 3 (juvenile) have worse Type 2 (infantile) and type 3 (juvenile) have worse
prognosisprognosis Type 1 (adult) can live longerType 1 (adult) can live longer Pseudo-Gaucher cell seen in CML with Pseudo-Gaucher cell seen in CML with
cholesterol from cell turn overcholesterol from cell turn over
Niemann-Pick Disease
Sphingomyelinase deficiencySphingomyelinase deficiency Foamy macrophages with ceroid and Foamy macrophages with ceroid and
sphingomyelinsphingomyelin Many seen in Ashkenazic JewsMany seen in Ashkenazic Jews Commonly fatal by 3 yearsCommonly fatal by 3 years Vacuolated lymphocytes and monocytesVacuolated lymphocytes and monocytes
Tay-Sach’s Disease
RecessiveRecessive -hexosaminidase deficiency-hexosaminidase deficiency Accululation of gangliosides and Accululation of gangliosides and
glycolipidsglycolipids Affect CNSAffect CNS
Fabry’s Disease
X-linked recessive sphyngolipidosisX-linked recessive sphyngolipidosis -galactosidase deficiency-galactosidase deficiency Ceramide trihexose in kidneysCeramide trihexose in kidneys Renal failure, purpuric skin lesions, CNS Renal failure, purpuric skin lesions, CNS
symptomssymptoms
Histiocytosis
Sea-blue histiocytosisSea-blue histiocytosis Mostly benignMostly benign Cerebroside and carbohydrate Cerebroside and carbohydrate
accumulationaccumulation Histiocytes with ceroid pigmentsHistiocytes with ceroid pigments