Moreno-Solano HG, Toledo-Nuñez C, Navar-Mendiola CA, Mares-Gil JE, Uribe-Ortiz LV, Ancona-Lezama DA

Language: Spanish
References: 12
Page: 235-238
PDF size: 884.12 Kb.

ABSTRACT

Introduction: we present a case of Erdheim-Chester disease, which is a type of histiocytosis that rarely occurs in children. Case presentation: a seven-year-old male was referred to Ophthalmology for a persistent right supratemporal orbital mass of four months' duration, accompanied by edema, erythema, and temporal ptosis. The patient maintained 20/20 visual acuity. Complete resection of the mass was performed. The diagnosis of this disease was established by histopathological study. Conclusions: this case underscores the need to consider Erdheim-Chester disease in the differential diagnosis of orbital lesions in children.

REFERENCES

1. Histiocytosis syndromes in children. Writing Group of the Histiocyte Society. Lancet. 1987; 1(8526): 208-209.

2. Chester W. Über Lipoidgranulomatose. Virchows Arch. 1930; 279(2): 561–602. doi: 10.1007/bf01942684

3. Goyal G, Heaney ML, Collin M, Cohen-Aubart F, Vaglio A, Durham BH et al. Erdheim-Chester disease: Consensus recommendations for evaluation, diagnosis, and treatment in the molecular era. Blood. 2020; 135(22): 1929-1945. doi: 10.1182/blood.2019003507.

4. Diamond EL, Dagna L, Hyman DM, Cavalli G, Janku F, Estrada-Veras J et al. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood. 2014; 124(4): 483-492. doi: 10.1182/blood-2014-03-561381.

5. Cives M, Simone V, Rizzo FM, Dicuonzo F, Lacalamita MC, Ingravallo G et al. Erdheim-Chester disease: a systematic review. Crit Rev Oncol Hematol. 2015; 95(1): 1-11. doi: 10.1016/j.critrevonc.2015.02.004.

6. Weitzman S, Jaffe R. Uncommon histiocytic disorders: the non-Langerhans cell histiocytoses. Pediatr Blood Cancer. 2005; 45(3): 256-264. doi: 10.1002/pbc.20246.

7. Cavalli G, Guglielmi B, Berti A, Campochiaro C, Sabbadini MG, Dagna L. The multifaceted clinical presentations and manifestations of Erdheim-Chester disease: comprehensive review of the literature and of 10 new cases. Ann Rheum Dis. 2013; 72(10): 1691-1695. doi: 10.1136/annrheumdis-2012-202542.

8. Drier A, Haroche J, Savatovsky J, Godenèche G, Dormont D, Chiras J,et al. Cerebral, facial, and orbital involvement in Erdheim-Chester disease: CT and MR imaging findings. Radiology. 2010;255(2):586-94. doi: 10.1148/radiol.10090320.

9. Aziz SN, Proano L, Cruz C, Tenemaza MG, Monteros G, Hassen G et al. Vemurafenib in the treatment of Erdheim-Chester disease: a systematic review. Cureus. 2022; 14(6): e25935. doi: 10.7759/cureus.25935.

10. Tran TA, Fabre M, Pariente D, Craiu I, Haroche J, Charlotte F et al. Erdheim-Chester disease in childhood: a challenging diagnosis and treatment. J Pediatr Hematol Oncol. 2009; 31(10): 782-786. doi: 10.1097/MPH.0b013e3181b76827.

11. Brodie J, Zhou S, Makkuni D, Beadsmoore C, Mukhtyar C, Saada J et al. Erdheim-Chester disease: two cases from an ophthalmic perspective. Am J Ophthalmol Case Rep. 2020; 20: 100984. doi: 10.1016/j.ajoc.2020.100984.

12. González-Gomar MA, Tovilla-Canales JL, Villalvazo-Cordero L, Hernández-Robledo FM. Tumores orbitarios, frecuencia, distribución por edad y correlación clínica-histopatológica durante un periodo de cinco años en un centro de referencia. Rev Mex Oftalmol. 2012; 86(3): 171-176.