Successful rescue of a child with Griscelli syndrome type 2 from lethal respiratory distress

Rubi Zined; Bhavna Rani; Aditya K. Gupta; Poonam Joshi

doi:10.18203/2349-3291.ijcp20261556

Authors

Rubi Zined National Institute of Nursing Education, Post Graduation Institute of Medical Education and Research, Chandigarh, India
Bhavna Rani Baba Farid University of Health Sciences, Faridkot, Punjab, India
Aditya K. Gupta Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, Delhi, India
Poonam Joshi College of Nursing, All India Institute of Medical Sciences, Kalyani, West Bengal, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20261556

Keywords:

Griscelli syndrome, Hemophagocytic lymphohistiocytosis, Bone marrow transplantation, Packed red blood cells

Abstract

In this study, we report a known case of GS type 2, in a four-year-old male child. The child initially presented with fever, tachypnea, severe anemia, massive hepatosplenomegaly, wheezing on auscultation. A chest x- ray revealed bilateral perihilar infiltrates. The child was managed with high flow, heated and humidified oxygen support at 20 liters/min, inhaled corticosteroids, salbutamol nebulization and antibiotics. A respiratory viral panel PCR sent to rule out viral pathogens. There was gradual improvement, and the child was tapered off oxygen within one week. The hepatosplenomegaly gradually regressed after receiving the HLH protocol. At the time of discharge, the child was maintaining saturation on room air without any distress, had no hepatomegaly and spleen had regressed to 5 cm under right costal margin. Work up for Bone marrow transplantation (BMT), was simultaneously started. GS2 can have heterogenous clinical manifestations. Early diagnosis and rapid control of HLH by using the HLH-1994 regimen along with supportive care for the complications is the key to successful treatment.

Metrics

Metrics Loading ...

References

Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Prunieras M. A syndrome associating partial albinism and immunodeficiency. Am J Med. 1978;65(4):691-702. DOI: https://doi.org/10.1016/0002-9343(78)90858-6

Griscelli syndrome: background, pathophysiology, etiology. In: Medscape Drugs and Diseases. WebMD LLC. 2023.

Griscelli syndrome: MedlinePlus Genetics. Bethesda (MD): National Library of Medicine (US). 2023.

Durmaz A, Özkinay F, Onay H, Tombuloğlu M, Atay A, Gürsel O, et al. Molecular analysis and clinical findings of Griscelli syndrome patients. J Pediatr Hematol Oncol. 2012;34(7):541-4. DOI: https://doi.org/10.1097/MPH.0b013e31826781ad

Pastural E, Ersoy F, Yalman N, Wulffraat N, Grillo E, Ozkinay F, et al. Two Genes Are Responsible for Griscelli Syndrome at the Same 15q21 Locus. Genomics. 2000;63(3):299-306. DOI: https://doi.org/10.1006/geno.1999.6081

Singh A, Garg A, Kapoor S, Khurana N, Entesarian M, Tesi B. An Indian boy with Griscelli syndrome type 2: case report and review of literature. Indian J Dermatol. 2014;59(4):394. DOI: https://doi.org/10.4103/0019-5154.135494

Minocha P, Choudhary R, Agrawal A, Sitaraman S. Griscelli syndrome subtype 2 with hemophagocytic lymphohistiocytosis: a case report and review of literature. Int J Res Dermatol. 2017;6(1):76-9. DOI: https://doi.org/10.5582/irdr.2016.01084

Bahrami A, Nateghian A, Salehi S, Bahoush G, Talebi S, Ghasemi S, et al. Griscelli syndrome type 2: a rare case with apparently normal skin and hair pigmentation. Acta Med Iran. 2020. DOI: https://doi.org/10.18502/acta.v58i1.3706

Klein C, Philippe N, Deist FL, Fraitag S, Prost C, Durandy A, et al. Partial albinism with immunodeficiency (Griscelli syndrome). J Pediatr. 1994;125(6):886-95. DOI: https://doi.org/10.1016/S0022-3476(05)82003-7