title: 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 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.
authors: Bangalore Medical College and Research Institute, Bangalore, Karnataka, India. chaitra.krishnagiri@gmail.com
authors: Chaitra
authors: C
authors: Krishnagiri
authors: Raghupathi R
authors: RR
authors: Ajanahalli
authors: Suma
authors: S
authors: Kashyap
authors: Reshma
authors: R
authors: Anegundi
authors: Latha
authors: L
authors: Boranaik
mesh_terms: D002675:Child, Preschool; D003594:Cytoplasmic Granules / Q000473:pathology; D056947:Enzyme Replacement Therapy; D005260:Female; D006098:Granulocytes / Q000473:pathology*; D006801:Humans; D007962:Leukocytes / Q000473:pathology; D009087:Mucopolysaccharidosis VI / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology*; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000627:therapeutic use; D011994:Recombinant Proteins / Q000627:therapeutic use
chemical_list: D011994:Recombinant Proteins; D020051:N-Acetylgalactosamine-4-Sulfatase; C508864:galsulfase