Abnormal granulation of blood granulocytes in mucopolysaccharidosis VI—a case report

Abstract Mucopolysaccharidosis (MPS) is a group of lysosomal storage disorders in which there is deficiency of specific enzymes. Depending upon the enzyme which is deficient and the nature of the material that accumulates at various tissues, the MPS is divided into 8 types (MPS I to MPS VIII). In MP...

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Bibliographic Details
Published in:Annals of diagnostic pathology 2013-02, Vol.17 (1), p.137-139
Main Authors: Krishnagiri, Chaitra, MBBS DCP, Ajanahalli, Raghupathi R., MBBS MD, Kashyap, Suma, MBBS DCP, Anegundi, Reshma, MBBS DCP, Boranaik, Latha, MBBS MD
Format: Article
Language:English
Subjects:
Abnormal red violet granules
Blood granulocytes
Child, Preschool
Cytoplasmic Granules - pathology
Enzyme Replacement Therapy
Female
Granulocytes - pathology
Humans
Leukocytes - pathology
Metachromatic granules
Mucopolysaccharidosis VI
Mucopolysaccharidosis VI - diagnosis
Mucopolysaccharidosis VI - drug therapy
Mucopolysaccharidosis VI - pathology
N-Acetylgalactosamine-4-Sulfatase - therapeutic use
Pathology
Recombinant Proteins - therapeutic use
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Summary:Abstract Mucopolysaccharidosis (MPS) is a group of lysosomal storage disorders in which there is deficiency of specific enzymes. Depending upon the enzyme which is deficient and the nature of the material that accumulates at various tissues, the MPS is divided into 8 types (MPS I to MPS VIII). In MPS VI, deficiency of aryl B sulfatase leads to the accumulation of dermatan sulfate. Mucopolysaccharidosis VI, also called as Maroteaux-Lamy syndrome, in its severe form presents with bony lesions, corneal clouding, hepatosplenomegaly, cardiovascular abnormalities, and central nervous system deterioration. This form of MPS features the most striking abnormal granulation in the circulating white blood cells. Mucopolysaccharidosis VI has an estimated global incidence of 1 in 340 000. The number of cases showing abnormal granules in the cytoplasm of leucocytes is still rarer. We report a case of MPS VI with abnormal granules in the circulating blood leukocytes.
ISSN:1092-9134
1532-8198
DOI:10.1016/j.anndiagpath.2011.07.009