Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report-Reference-Cited by-同舟云学术

Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report

Published:2024-02-05 Issue:2 Volume:5 Page:221-225
ISSN:2628-491X
Container-title:Advances in Laboratory Medicine / Avances en Medicina de Laboratorio
language:en
Short-container-title:

Author:

Saiz-Sierra Leire¹,Marull Arnall Anna¹²^ORCID,Nieto-Moragas Javier¹³²,Deulofeu Meritxell¹²,Jiménez Romero Orlando¹²,Mademont Irene¹,Obón Ferrer María¹,Serrando Querol María Teresa¹³²⁴

Affiliation:

1. Laboratori Territorial ICS-IAS Girona, Hospital Universitari Doctor Josep Trueta , Girona , Spain

2. Department of Medical Sciences , Research Group of Clinical Anatomy, Embryology and Neuroscience (NEOMA), University of Girona , Girona, Catalonia , Spain

3. Comisión de Biología Hematológica de la SEQC , Girona , Spain

4. Laboratori Territorial ICS-IAS Girona, Hospital, Parc Hospitalari Martí i Julià , Salt, Girona, Catalunya , Spain

Abstract

Abstract Objectives Giant inclusions in leukocytes is a common feature that can be observed in some infections but can be also related to rare genetic disorders such as Chédiak-Higashi syndrome (CHS). A differential diagnosis between these groups of diseases has to be performed using specific genetic tests. Clinical and pathological history is relevant for a diagnostic orientation due to the difficulty and specificity of the diagnostic confirmation. Case presenation We present the case of a 3-years-old male patient with recurrent respiratory infections. It is important to highlight the presence of a lock of white hair on the front of the head and some hypopigmentation of the skin. In the blood smear, the presence of big cytoplasm granules in all the leukocytes, especially in neutrophils. Conclusions CHS is an uncommon genetic disorder caused by the mutation in the LYST gene situated in chromosome 1q42.3 which codified for LYST protein. Molecular genetic testing also can be done to detect the biallelic variants in the LYST gene. It is essential to perform peripheral blood smears in the presence of changes in quantitative and/or qualitative values in the complete blood count as a first step in the diagnosis algorithm.

Publisher

Walter de Gruyter GmbH

Link

https://www.degruyter.com/document/doi/10.1515/almed-2023-0136/pdf

Reference15 articles.

1. Picard, C, Bobby Gaspar, H, Al-Herz, W, Bousfiha, A, Casanova, JL, Chatila, T, et al.. International Union of Immunological Societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity. J Clin Immunol 2018;38:96–128. https://doi.org/10.1007/s10875-017-0464-9.

2. Ward, DM, Shiflett, SL, Kaplan, J. Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder. Curr Mol Med 2002;2:469–77. https://doi.org/10.2174/1566524023362339.

3. Barbosa, MD, Nguyen, QA, Tchernev, VT, Ashley, JA, Detter, JC, Blaydes, SM, et al.. Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 1996;382:262–5. https://doi.org/10.1038/382262a0. Erratum in: Nature 1997;385:97.

4. Lozano, ML, Rivera, J, Sánchez-Guiu, I, Vicente, V. Towards the targeted management of Chediak-Higashi syndrome. Orphanet J Rare Dis 2014;9:132. https://doi.org/10.1186/s13023-014-0132-6.

5. Maaloul, I, Talmoudi, J, Chabchoub, I, Ayadi, L, Kamoun, TH, Boudawara, T, et al.. Chediak-Higashi syndrome presenting in accelerated phase: a case report and literature review. Hematol Oncol Stem Cel Ther 2016;9:71–5. https://doi.org/10.1016/j.hemonc.2015.07.002.