More clinical information: no family history of hematologic disease; he needs special education (some degree of retardation); he wears glasses (visual problem); he has chronic diarrhea/constipation.
Differential diagnosis:
Autoimmune neutropenia
-autoantibody for neutrophils was negative
Cyclic neutropenia
- twice weekly CBC, all ANC<1000/ul
Shwachman diamond syndrome
- BM no myeloid hypoplasia
Kostmann syndrome
- BM no neutrophilic maturation arrest
Molecular test for COH1(VPS13B) gene (8q22) identified 1 pathogenic variant for Cohen syndrome.
Diagnosis: Cohen syndrome?
- an autosomal recessive disorder
- developmental delay, hypotonia, myopia, and neutropenia
- Neutropenia in Cohen syndrome is typically mild to moderate, not associated with fatal infections
- Marrow shows normal cellularity and myeloid hematopoiesis; cause of neutropenia is adhesion problem of neutrophils, the neutrophils do not go to circulation
Differential diagnosis:
Autoimmune neutropenia
-autoantibody for neutrophils was negative
Cyclic neutropenia
- twice weekly CBC, all ANC<1000/ul
Shwachman diamond syndrome
- BM no myeloid hypoplasia
Kostmann syndrome
- BM no neutrophilic maturation arrest
Molecular test for COH1(VPS13B) gene (8q22) identified 1 pathogenic variant for Cohen syndrome.
Diagnosis: Cohen syndrome?
- an autosomal recessive disorder
- developmental delay, hypotonia, myopia, and neutropenia
- Neutropenia in Cohen syndrome is typically mild to moderate, not associated with fatal infections
- Marrow shows normal cellularity and myeloid hematopoiesis; cause of neutropenia is adhesion problem of neutrophils, the neutrophils do not go to circulation