Jun 2, 2025
Pancytopenia with Hypocellular or Acellular Bone Marrow
Pancytopenia with Cellular BM
Important IBMFSs
Clinical Feature
Rare Manifestations
Laboratory Findings
Diagnosis
Complications
Treatment
Prognosis
Reduction in peripheral blood concentration of all three lineages, i.e., RBCs, leukocytes, and platelets. Pancytopenia words stand for the reduction in circulating levels of all cells.
Inherited BM failure syndromes e.g. Fanconi's anemia and DKC (Dyskeratosis Congenita). It also includes the categories of acquired aplastic anemia and the hypoplastic variant of myelodysplastic syndrome
They comprise about 30% of the cases of pediatric BM failure. Most of them are monogenic disorders and show Mendelian inheritance. It may begin as a uni/bilineage disorder and later evolves into pancytopenia. The most common type of IBMFS is Fanconi's anemia.
A BMFS with extra-hematological manifestation different from FA and shows no enhanced chromosomal fragility in response to DEB or MMC. It is considered to be a ribosomopathy (there is a problem in the assembly of ribosomes). Most of them are inherited and show the autosomal recessive inheritance. Genes Implicated: SBDS gene 7q11 (80 to 90%). Rare genes are the DNAJC21 gene and EFL-1 (10%). The product of SBDS gene plays a role in pre-60s ribosome subunit maturation. The protein binds to the EFL1 GTPase and facilitates the release of eIF6 to enable 80S monosomes formation. Late stage of ribosomes assembly.
Almost 80% of patients with SDS are found to have reduced formation of pancreatic acini and increased fibrofatty infiltration in pancreas, which will produce pancreatic insufficiency and decreased pancreatic enzyme, although many of these children are diagnosed in the 1st yr of the life. These pancreatic features are prominent in 1st 3-4 yrs of life and as the child gets older and survives the features improve. Exocrine pancreatic insufficiency, they tend to improve with time.
Growth retardation skeletal defects. BM failure changes due to either dysfunctional hematopoietic stem cells or they arise due to apoptosis of progenitor cells. It is found that most of these individual neutropenia is virtually always present, anemia and thrombocytopenia may be present but neutropenia will be present in the majority of these patients. Growth retardation includes short stature as well as decreased body weight. The classic skeletal defects can be in the form of metaphyseal dysplasia. In addition osteopenia can also be found in patients.
Tests for pancreatic insufficiency and fat malabsorption. Pancreatic enzymes- serum trypsinogen, pancreatic isoamylase are low but their age adjusted values need to be checked. Low fecal elastase will be present. Prothrombin time is elevated due to Vitamin K deficiency. Serum vit A and 25 (OH) vitamin D levels are low. USG/CT scan shows fatty replacement of pancreatic tissue. Stool for fat globules and 72 hour stool fat assay. Blood test:
BM studies; hypocellular BM with decreased progenitor cell. Immune defects: low IgG or subclasses, low Ig production, low B cells or NK cells or T cells, less in vitro B and T cell proliferation.
Also read: NEET SS Pediatric Neonatology Important Topics
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