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Mucopolysaccharidosis type VII. A morphologic, cytochemical, and ultrastructural study of the blood and bone marrow
Abstract:
The morphologic, cytochemical, and ultrastructural pathology of the blood and bone marrow of an infant with Mucopolysaccharidosis Type VII (MPS VII) is reported. The neutrophils, monocytes, basophils, and eosinophils contained prominent granulation of the Alder-Reilly type. The lymphocytes, plasma cells, osteoblasts, and macrophages contained cytoplasmic inclusions surrounded by clear vacuoles. Cytochemically, the granulocytes, monocytes, and lymphocytes were negative for beta-glucuronidase, negative or weakly metachromatic with toluidine blue, and positive for acid phosphatase. Macrophages were negative with toluidine blue. A normal staining pattern was present with myeloperoxidase and periodic acid-Schiff (PAS). Ultrastructural studies showed abnormal vacuoles in neutrophils, basophils, eosinophils, monocytes, lymphocytes, plasma cells, and macrophages. Occasional vacuoles contained Ruthenium Red positive material and confirmed the presence of acid mucopolysaccharide in these cells. This report confirms previously described abnormalities in peripheral blood cells in MPS VII, demonstrates additional abnormalities in bone marrow, and reports cytochemical reactions in leukocytes in MPS VII.
Insights
This study details the blood and bone marrow pathology in an infant with Mucopolysaccharidosis Type VII (MPS VII). Findings reveal characteristic cellular abnormalities and enzyme deficiencies, aiding in MPS VII diagnosis.
Area of Science:
- Hematology
- Biochemistry
- Genetics
Background:
- Mucopolysaccharidosis Type VII (MPS VII) is a rare genetic disorder.
- Characterized by deficient beta-glucuronidase activity, leading to mucopolysaccharide accumulation.
- Understanding cellular pathology is crucial for diagnosis and management.
Observation:
- Morphologic, cytochemical, and ultrastructural analysis of blood and bone marrow cells from an infant with MPS VII.
- Observed Alder-Reilly granulation in neutrophils, monocytes, basophils, and eosinophils.
- Cytoplasmic inclusions and abnormal vacuoles noted in various leukocytes and macrophages.
Findings:
- Leukocytes (granulocytes, monocytes, lymphocytes) were negative for beta-glucuronidase and acid phosphatase positive.
- Macrophages showed distinct cytochemical reactions, negative for toluidine blue.
- Ultrastructural studies confirmed abnormal vacuoles containing acid mucopolysaccharides.
Implications:
- Confirms and expands upon known peripheral blood cell abnormalities in MPS VII.
- Highlights novel bone marrow cellular pathology in MPS VII.
- Provides essential cytochemical data for diagnosing MPS VII in leukocytes.