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CC BY-NC-ND 4.0 · J Lab Physicians 2019; 11(01): 097-099
DOI: 10.4103/JLP.JLP_126_18
Case Report

Mucopolysaccharidosis: A case report highlighting hematological aspects of the disease

Rubal Jain
Department of Pathology and Lab Medicine, All India Institute of Medical Sciences, Bhopal, Madhya Pradesh, India
,
Ujjawal Khurana
Department of Pathology and Lab Medicine, All India Institute of Medical Sciences, Bhopal, Madhya Pradesh, India
,
Bhavna Dhingra Bhan
Department of Paediatrics, All India Institute of Medical Sciences, Bhopal, Madhya Pradesh, India
,
Garima Goel
Department of Pathology and Lab Medicine, All India Institute of Medical Sciences, Bhopal, Madhya Pradesh, India
,
Neelkamal Kapoor
Department of Pathology and Lab Medicine, All India Institute of Medical Sciences, Bhopal, Madhya Pradesh, India
› Author Affiliations Financial support and sponsorship: Nil
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Abstract

A 1½-year-old female child presented with swelling in thoracolumbar region and delayed developmental milestones. The routine hemogram analysis on Sysmex XN 1000 showed flags of white blood cell (WBC) abnormal scattergram and lymphocytosis. The peripheral smear examination showed Alder–Reilly (AR) granules leading to a suspicion of underlying Mucopolysaccharidosis (MPS). Further clinical workup, radiographic studies, chemical test lead to the confirmatory diagnosis of MPS. A flag of abnormal WBC scattergram and AR anomaly are the hematological findings that can be seen in a case of MPS.

Key words

Alder-Reilly anomaly - automated blood counters - mucopolysaccharidosis - Morquio syndrome


Publication History

Received: 28 September 2018

Accepted: 12 December 2018

Article published online:
06 April 2020

© 2019.

Thieme Medical and Scientific Publishers Private Ltd.
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  • References

  • 1 Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver C, Beaudet AL, Valle D, Sly W, editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001. p. 3421.
  • 2 AlMozain N, Bakshi NA. A case of hunter syndrome and Alder-Reilly anomaly. J Appl Hematol 2017;8:33-5.
  • 3 Bhuyan P, Singh B, Chakrabarty S, Mohanty N, Agarwal M, Satpathy S, et al. Alder-Reilly anomaly in Hurler’s syndrome in a neonate: A Rare case report. Indian J Hematol Blood Transfus 2013;29:184-6.
  • 4 Sharma S, Sethi N, Pujani M, Kushwaha S, Sehgal S. Abnormal WBC scattergram: A clue to the diagnosis of malaria. Hematology 2013;18:101-5.
  • 5 Gupta M, Chauhan K, Singhvi T, Kumari M, Grover RK. Useful information provided by graphic displays of automated cell counter in hematological malignancies. J Clin Lab Anal 2018;32:e22392.
  • 6 Briggs C, Longair I, Kumar P, Singh D, Machin SJ. Performance evaluation of the sysmex haematology XN modular system. J Clin Pathol 2012;65:1024-30.
  • 7 Straussberg R, Weitz R, Bessler H. A juvenile ceroid lipofuscinosis-like disease associated with Alder’s anomaly: An ultrastructural study. Haema 1999;2:206-10.
  • 8 Ghandi MK, Howard MR, Hamilton PJ. The Alder-Reilly anomaly in association with the myelodysplastic syndrome. Clin Lab Haematol 1996;18:39-40.
  • 9 Bain BJ. Blood cell morphology in health and disease. In: Bain BJ, Bates I, Laffan MA, Lewis SM, editors. Dacie and Lewis Practical Hematology. 11th ed. China: Churchill Livingstone Elsevier; 2012. p. 90-2.