Mucopolysaccharidosis: A case report highlighting hematological aspects of the disease

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) gr...

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Autores principales: Jain, Rubal, Khurana, Ujjawal, Bhan, Bhavna Dhingra, Goel, Garima, Kapoor, Neelkamal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6437814/
https://www.ncbi.nlm.nih.gov/pubmed/30983812
http://dx.doi.org/10.4103/JLP.JLP_126_18
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author Jain, Rubal
Khurana, Ujjawal
Bhan, Bhavna Dhingra
Goel, Garima
Kapoor, Neelkamal
author_facet Jain, Rubal
Khurana, Ujjawal
Bhan, Bhavna Dhingra
Goel, Garima
Kapoor, Neelkamal
author_sort Jain, Rubal
collection PubMed
description 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.
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spelling pubmed-64378142019-04-12 Mucopolysaccharidosis: A case report highlighting hematological aspects of the disease Jain, Rubal Khurana, Ujjawal Bhan, Bhavna Dhingra Goel, Garima Kapoor, Neelkamal J Lab Physicians Case Report 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. Wolters Kluwer - Medknow 2019 /pmc/articles/PMC6437814/ /pubmed/30983812 http://dx.doi.org/10.4103/JLP.JLP_126_18 Text en Copyright: © 2019 Journal of Laboratory Physicians http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Jain, Rubal
Khurana, Ujjawal
Bhan, Bhavna Dhingra
Goel, Garima
Kapoor, Neelkamal
Mucopolysaccharidosis: A case report highlighting hematological aspects of the disease
title Mucopolysaccharidosis: A case report highlighting hematological aspects of the disease
title_full Mucopolysaccharidosis: A case report highlighting hematological aspects of the disease
title_fullStr Mucopolysaccharidosis: A case report highlighting hematological aspects of the disease
title_full_unstemmed Mucopolysaccharidosis: A case report highlighting hematological aspects of the disease
title_short Mucopolysaccharidosis: A case report highlighting hematological aspects of the disease
title_sort mucopolysaccharidosis: a case report highlighting hematological aspects of the disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6437814/
https://www.ncbi.nlm.nih.gov/pubmed/30983812
http://dx.doi.org/10.4103/JLP.JLP_126_18
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AT kapoorneelkamal mucopolysaccharidosisacasereporthighlightinghematologicalaspectsofthedisease

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