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

Chaitra Krishnagiri1, Raghupathi R Ajanahalli, Suma Kashyap

  • 1Bangalore Medical College and Research Institute, Bangalore, Karnataka, India. chaitra.krishnagiri@gmail.com

Annals of Diagnostic Pathology
|November 8, 2011
PubMed

Insights

Mucopolysaccharidosis VI (MPS VI), a rare lysosomal storage disorder, involves dermatan sulfate accumulation due to aryl B sulfatase deficiency. This case highlights MPS VI presenting with rare abnormal granules in circulating leukocytes.

Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Mucopolysaccharidosis (MPS) encompasses a group of inherited lysosomal storage disorders.
  • These disorders result from deficiencies in specific lysosomal enzymes, leading to the accumulation of glycosaminoglycans.
  • MPS is classified into eight types (MPS I-VIII) based on the deficient enzyme and accumulating substrate.

Observation:

  • Mucopolysaccharidosis VI (MPS VI), also known as Maroteaux-Lamy syndrome, is caused by a deficiency in the enzyme aryl B sulfatase.
  • This deficiency leads to the accumulation of dermatan sulfate.
  • Severe MPS VI manifestations include skeletal deformities, corneal clouding, enlarged liver and spleen, cardiac issues, and neurological decline.

Findings:

  • MPS VI is characterized by distinctive abnormal granulation in circulating white blood cells.
  • The global incidence of MPS VI is approximately 1 in 340,000 births.
  • Cases with abnormal leukocyte cytoplasmic granules are exceptionally rare.

Implications:

  • This case report documents a rare presentation of MPS VI with abnormal leukocyte granules.
  • Understanding these rare presentations aids in early diagnosis and management of MPS VI.
  • Further research into the pathobiology of leukocyte abnormalities in MPS VI may reveal novel diagnostic markers.

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