Cerebral Infiltrative Lesion and Chronic Clinical Course of the Rosai-Dorfman Disease: Case Report
Iranian Journal of Child Neurology,
Vol. 15 No. 2 (2021),
8 March 2021
Rosai-Dorfman disease (RDD) is a rare disorder of an unknown etiology, characterized by a benign histiocytic proliferation in the lymph nodes, as well as the extranodal sites. Painless bilateral lymphadenopathy is the classic presentation of RDD in the majorityof patients. The exteranodal disease involves the skin, soft tissues, bones, the genitourinary system, the lower respiratory tract, and the central nervous system. A seven-year-old boy was referred to our hospital with left parietal swelling, headache, fever, imbalance, weight loss, and speech and walking impairments. In early examinations, he showed a hyposignal infiltrative lesion in the lateral ventricle and the choroid plexus, expanding to the subcortical white matter of the bilateral temporooccipital areas. After surgery and sampling, he was diagnosed with cerebral RDD.
According to his history, he had bilateral cervical lymphadenopathy at the age of two years, femoral soft tissueinvolvement at the age of three, and a skin disorder that improved with local treatments at the age of five. However, at the time of referral to the hospital, there were no other symptoms in other areas, except for brain symptoms. In the differential diagnosis of brain lesions with specific borders in high-contrast radiological views, the probability of RDD should be considered, similar to meningioma.
The presence of painless and extensive bilateral cervical lymphadenopathy can improve the diagnosis of this disease. Isolated brain involvement in RDD is very rare, and it can be seen in less than 5% of cases. Nevertheless, by early diagnosis and intervention, the risk of complications is reduced, and the prognosis is improved.
- cerebral lesion
- histiocytic proliferation
- Rosai-Dorfman disease
How to Cite
Destombes P. Adenitis with lipid excess, in children or young adults, seen in the Antilles and in Mali. Four cases. Bull SocPatholExot Fil .1965; 58:1169–1175, French.
Foucar E, Rosai J, Dorfman RF, Brynes RK. The neurologic manifestations of sinus histiocytosis with massivelymphadenopathy.Neurology.1982; 32:365–372.
Delacretaz F, Meugé-Moraw C, Anwar D, Borisch B, Chave JP. Sinus histiocytosis with massivelymphadenopathy (RosaiDorfman disease) in an HIV-positive patient. Virchows Arch A PatholAnatHistopathol. 1991; 419 (3):251-254.
Haroche J, Charlotte F, Arnaud L, von Deimling A, Hélias-Rodzewicz Z, Hervier B, et al. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood. 2012 Sep 27; 120(13):2700-3.
Chakraborty R, Hampton OA, Shen X, Simko SJ, Shih A, Abhyankar H, et al. Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis. Blood. 2014 Nov 6; 124(19):3007-15. doi: 10.1182/blood-2014-05-577825.
Diamond EL, Durham BH, Haroche J, Yao Z, Ma J, Parikh SA, et al. Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms. Cancer Discov. 2016; 6(2):154-65. doi: 10.1158/2159-8290.CD-15-0913.
Shanmugam V, Margolskee E, Kluk M, Giorgadze T, Orazi A. Rosai-Dorfman Disease Harboring an Activating KRAS K117N Missense Mutation. Head Neck Pathol. 2016; 10: 394-399.
Lee LH, Gasilina A, Roychoudhury J, Clark J, McCormack FX, Pressey J, et al. Real-time genomic profiling of histiocytoses identifies early-kinase domain BRAF alterations while improving treatment outcomes. JCI Insight. 2017 Feb 9; 2(3):e89473. doi: 10.1172/jci.insight.89473.
Garces S, Medeiros LJ, Patel KP, Li S, Pina-Oviedo S, et al. Mutually exclusive recurrent KRAS and MAP2K1 mutations in RosaiDorfman disease. Mod Pathol. 2017 Oct; 30(10):1367-1377. doi: 10.1038
Matter MS, Bihl M, Juskevicius D, Tzankov A. Is Rosai-Dorfman disease a reactiveprocess? Detection of a MAP2K1 L115V mutation in a case of Rosai-Dorfmandisease.VirchowsArchiv: an international journal of pathology. 2017; 471:545-7.
Foucar E, Rosai J, Dorfman R. Sinus hisitocytosis with massive lymphadenopathy (Rosai- Dorfman disease): review of the entity. SeminDiagnPathol. 1990; 7(1):19-73.
Patel MH, Jambhekar KR, Pandey T, Ram R. A rare case of extranodalRosai-Dorfman disease with isolated multifocal osseous manifestation. Indian J Radiol Imaging. 2015; 25(3):284-7.
Foucar E, Rosai J, Dorfman R. Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorman disease: review of the entity). SeminDiagnPathol .1990; 7:19–73.
Pulsoni A, Anghel G, Falcucci P, Matera R, Pescarmona E, Ribersani M, Villivà N, et al. Treatment of sinus histiocytosis with massive lymphadenopathy (RosaiDorfman disease): report of a case and literature review Am J Hematol. 2002 Jan; 69(1):67-71.
Lima FB, Barcelos PS, Constancio AP, Nogueira CD, Melo-Filho AA.Rosai-Dorfman disease with spontaneous resolution: case report of a child. Rev Bras HematolHemoter.2011; 33(4):312-4.
- Goyal G, Ravindran A, Patnaik MM, Nowakowski GS, Thanarajasingam G, Habermann TM, Sher T, Rech KL,nwards DJ, Johnston PB, Vassallo R. Clinical Features and Treatment Approaches in Patients with Rosai-Dorfman Disease: The Mayo Clinic Experience.2017;130(1):3573.
O. Raslan, L. M. Ketonen, G. N. Fuller, and D. Schellingerhout, “Intracranial Rosai-Dorfman disease with relapsing spinal lesions,” Journal of Clinical Oncology, vol. 26, no. 18, pp. 3087– 3089, 2008.
E. Konishi, N. Ibayashi, S. Yamamoto, and B. W. Scheithauer, “Isolated intracranial Rosai-Dorfman disease (sinus histiocytosis with massive lymphadenopathy),” American Journal of Neuroradiology, vol. 24, no. 3, pp. 515–518, 2003.
J. Rosai, Rosai and Ackerman’s Surgical Pathology, Mosby, New York, NY, USA, 10th edition, 2011.
X. Y. Cao, S. H. Luan, W. M. Bao, C. Shen, and B. J. Yang, “Solitary intracranial Rosai-Dorfman disease: case
J.-A. W. Andriko, A. Morrison, C. H. Colegial, B. J. Davis, and R. V. Jones, “Rosai-Dorfman disease isolated to the central nervous system: a report of 11 cases, ” Modern Pathology.2001: 14(3). 172–178.
V. Krishnamoorthy, C. F. Parmar, and D. Panikar, “Isolated intracranial Rosai Dorfman disease, ” Neurology India.2011; 59(3). 443– 446.
Fukushima, T, Yachi, K., Ogino, A., Ohta, T., Watanabe, T., Yoshino, A, et al.“Isolated intracranial Rosai-Dorfman disease withoutdural attachment, ” Neurologia Medico- Chirurgica.2011; 51(2). 136–140
Zhao M, Li C, Zheng J, et al. ExtranodalRosai- Dorfman disease involving appendix and mesenteric nodes with protracted course: a
report of a rare case lacking relationship toIgG4- related disease and review of the literature. Int J.ClinExpPathol. 2013; 6(11):2569-77.
A. A. Ramos, M. A. A. Vega, J. V. D. Alles, M. J. A. Garcia, and A. M. Mart´ınez, “Multiple involvement of the central nervous system in Rosai-Dorfman disease, ” Pediatric Neurology, 2012;46(1). 54–56,
- Abstract Viewed: 32 times
- pdf Downloaded: 0 times