HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS – A PRESENTATION OF ACCELERATED PHASE OF CHEDIAK HIGASHI SYNDROME; CASE REPORT AND CLINICOPATHOLOGICAL REVIEW
DOI:
https://doi.org/10.55519/JAMC-02-12731Keywords:
chediak higashi, hemophagocytosis, albinism, photosensitivity, intra cytoplasmic granulesAbstract
Chediak Higashi syndrome (CHS), a rare form of autosomal recessive disorder has been reported globally in less than 500 cases over the past two decades. It clinically manifests as repeated episodes of infection, haemorrhagic sequelae, partial albinism, photosensitivity and late neurological signs (neuropathy, cognitive impairment etc). The pathognomonic morphological finding is the presence of abnormally large intra-cytoplasmic granules, particularly in leucocytes. Almost 85% of CHS cases advance into an accelerated phase, characterized by cytopenias and hemophagocytosis, leading to multi-organ failure. Case presentation: The child in the present case had consanguinity and a positive family history of recurrent infections. She had repeated episodes of bacterial infections. She also had a history of photosensitivity. CBC reported cytopenias. Peripheral smear showed neutrophils with characteristic large sized abnormal intra-cytoplasmic granules. Bone marrow biopsy was performed which also showed similar granules in leucocytes along with hemophagocytosis. Other clinical and biochemical markers also pointed towards hemophagocytic lymphohistiocytosis (HLH), thus patient was diagnosed as CHS in an accelerated phase. She received eight doses of chemotherapy but eventually expired. Conclusion: The definitive treatment is hematopoietic stem cell transplantation which improves the hematological and immune aspects of CHS but not the neurological. Steps should be taken for early diagnosis and to prevent advancement into the accelerated phase.References
Baguez-Cesar A. Neutoropenia cronica maligna familiar con granulaciones atipicas de los leucocitos. Bol Soc Cubbana Pediatr 1943;15:900–22.
Chediak M. Nouvelle anomalie leucocytaire de caractère constitutionnel et familial. Rev Hematol 1952;7:362–7.
Higashi O. Congenital gigantism of peroxidase granules; the first case ever reported of qualitative abnormity of peroxidase. Tohoku J Exp Med 1954;59(3):315–32.
Toro C, Nicoli E, Malicdan M, Adams D, Introne W. Chediak-Higashi syndrome-GeneReviews®. Adam M, Ardinger H, Pagon R. editors. University of Washington, Seattle: NCBI Bookshelf; 2018.
Gajendra S, Das RR, Chopra A, Singh A, Seth R. Accelerated phase at initial presentation in Chédiak-Higashi syndrome: is it really uncommon? Pediatr Hematol Oncol 2014;31:382–5.
Imran T, Zafar L, Rehan M, Nasir A, Tariq PA, Batool I. Chediak-Higashi syndrome presenting in accelerated phase. J Coll Physicians Surg Pak 2012;22(8):539–41.
Henter JI, Horne A, Aricó M, Egeler RM, Filipovich AH, Imashuku S, et al. HLH- 2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 2007;48(2):124–31.
Nagai K, Ochi F, Terui K, Maeda M, Ohga S, Kanegane H, et al. Clinical characteristics and outcomes of chédiak-Higashi syndrome: A nationwide survey of Japan. Pediatr Blood Cancer 2013;60(10):1582–6.
Sharma P, Nicoli ER, Serra-Vinardell J, Morimoto M, Toro C, Malicdan MCV, et al. Chediak-Higashi syndrome: a review of the past, present, and future. Drug Discov Today Dis Models 2020;31:31–6.
Kaplan J, De Domenico I, Ward DM. Chediak-Higashi syndrome. Curr Opin Hematol 2008;15(1):22–9.
Shirazi TN, Snow J, Ham L, Raglan GB, Wiggs EA, Summers AC, et al. The neuropsychological phenotype of Chediak-Higashi disease. Orphanet J Rare Dis 2019;14(1):101.
Lehky T, Groden C, Lear B, Toro C, Introne W. Peripheral nervous system manifestations of Chediak-Higashi disease. Muscle Nerve 2017;55(3):359–65.
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(5):469–77.
Dotta L, Parolini S, Prandini A, Tabellini G, Antolini M, Kingsmore SF, et al. Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism. Orphanet J Rare Dis 2013;17:168.
Pujani M, Agarwal K, Bansal S, Ahmad I, Puri V, Verma D, et al. Chediak-Higashi syndrome - a report of two cases with unusual hyperpigmentation of the face. Turk Patoloji Derg 2011;27(3):246–8.
Usha HN, Prabhu PD, Sridevi M, Baindur K, Balakrishnan CM. Chediak-Higashi syndrome. Indian Pediatr 1994;31(9):1115–9.
Kumar A, Skubitz K. Qualitative disorders of leucocytes: Wintrobe’s Clinical Hematology. 14 ed. Philadelphia. Wolters Kluwer Health: 2018; p.1316–28.
Roy A, Kar R, Basu D, Srivani S, Badhe BA. Clinico-hematological profile of Chediak-Higashi syndrome: experience from a tertiary care center in south India. Indian J Pathol Microbiol 2011;54(3):547–51.
Farhoudi A, Chavoshzadeh Z, Pourpak Z, Izadyar M, Gharagozlou M, Movahedi M, et al. Report of six cases of chediak-higashi syndrome with regard to clinical and laboratory findings. Iran J Allergy Asthma Immunol 2003;2(4):189–92.
Otrock Z, Eby C. Clinical characteristics, prognostic factors, and outcomes of adult patients with hemophagocytic lymphohistiocytosis. Am J Hematol 2015;90(3):220–4.
Downloads
Published
Issue
Section
License
Copyright (c) 2024 Omer Javed, Bushra Kaleem, Sana Naveed, Anila Aali, Hamza Khan
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.
Journal of Ayub Medical College, Abbottabad is an OPEN ACCESS JOURNAL which means that all content is FREELY available without charge to all users whether registered with the journal or not. The work published by J Ayub Med Coll Abbottabad is licensed and distributed under the creative commons License CC BY ND Attribution-NoDerivs. Material printed in this journal is OPEN to access, and are FREE for use in academic and research work with proper citation. J Ayub Med Coll Abbottabad accepts only original material for publication with the understanding that except for abstracts, no part of the data has been published or will be submitted for publication elsewhere before appearing in J Ayub Med Coll Abbottabad. The Editorial Board of J Ayub Med Coll Abbottabad makes every effort to ensure the accuracy and authenticity of material printed in J Ayub Med Coll Abbottabad. However, conclusions and statements expressed are views of the authors and do not reflect the opinion/policy of J Ayub Med Coll Abbottabad or the Editorial Board.
USERS are allowed to read, download, copy, distribute, print, search, or link to the full texts of the articles, or use them for any other lawful purpose, without asking prior permission from the publisher or the author. This is in accordance with the BOAI definition of open access.
AUTHORS retain the rights of free downloading/unlimited e-print of full text and sharing/disseminating the article without any restriction, by any means including twitter, scholarly collaboration networks such as ResearchGate, Academia.eu, and social media sites such as Twitter, LinkedIn, Google Scholar and any other professional or academic networking site.