Childs Nerv Syst DOI 10.1007/s00381-015-2629-2
CASE-BASED UPDATE
Cerebral Rosai–Dorfman disease Wolf Lüdemann & Rouzbeh Banan & Amir Samii & Michalis Koutzoglou & Concezio Di Rocco
Received: 3 January 2015 / Accepted: 3 February 2015 # Springer-Verlag Berlin Heidelberg 2015
Abstract Background Sinus histiocytosis (Rosai–Dorfman disease) with massive lymphadenopathy is a rare nonneoplastic and nonlangerhans cell proliferation disorder of the histiocytes. Extranodal location with or without lymphadenopathy occurs in about 40 % of the cases. Intracranial location is rare in children often mimicking meningiomas. The parasphenoidal region is more frequently involved though intraxial or intraventricular locations were described as well. Rarely, the surgical treatment allows the complete excision of the lesion; however, in symptomatic cases, partial resections of the tumor allow to counteract its mass effect. Long survivals are possible, even without radiotherapy or chemotherapy, due to the frequent spontaneous benign evolution of the lesions. Case report A 2-year-10-month-old girl presented with high fever and vomiting. One year ago, she had a period of muscular weakness in both legs that recovered completely. MRI of the brain revealed an axial enhancing lesion with ventricular spreading mainly to the left occipital horn and bilateral frontal periventricular infiltration. After steroid therapy, all the symptoms recovered. Partial removal of the occipital intraventricular lesion was performed and the diagnosis of Rosai– Dorfman disease was established and confirmed by the reference center. At the latest follow-up (16 months),
W. Lüdemann (*) : R. Banan : A. Samii : C. Di Rocco Pediatric Neurosurgery, International Neuroscience Institute, Rudolf Pichlmayrstr. 4, 30625 Hannover, Germany e-mail: [email protected] M. Koutzoglou Department of Neurosurgery, Aglaia Kyriakou National Hospital for Children, 11527 Athens, Greece
the girl is without any neurological symptoms and without any treatment. Keywords Brain . Child . Histiocytosis . Sinus histiocytosis . Histiocytic proliferative disorder . Magnetic resonance imaging . Surgical treatment
Introduction Histiocytic disorders are classified as malignant/neoplastic types or as nonmalignant types. Lange rhans cell histiocytosis belongs to the malignant/neoplastic type. Rosai–Dorfmann disease (RDD) on the other hand is a rare disorder of unknown etiology characterized by a nonmalignant proliferation of histiocytes that can be located in the lymph nodes or extranodal. Painless bilateral lymphadenopathy is the classical presentation in the majority of the patients [8].
Historical background In 1965, Destombes reported on a form of adenitis with lipid excess occurring in children or young adults in the Antilles and Mali population [4]. The nodal disease, also referred to as sinus histiocytosis with massive lymphadenopathy (SHML), was first described with this name in 1969 [8]. Thanks to the pioneering work of the pathologists Juan Rosai and Ronald Dorfman, who established the clinicopathological entity as well as a worldwide registry to catalogue cases of SHML, the disease was named after them as Rosai–
Childs Nerv Syst
Dorfman disease, especially when referring to the extranodal type [8].
Clinical presentation Painless bilateral lymphadenopathy is the classical presentation in 83 % of the patients [8]. The disease occurs worldwide without any specific gender or socioeconomic predilection; it is reported to be less common in Asian descent, if compared with Caucasians and African descents. Rarely, familiar cases have been reported. The involved lymph nodes are most frequently the cervical ones followed by axillary, para-aortic, inguinal, and mediastinal [14]. Nonspecific fevers as well as pharyngitis, malaise, pain, night sweat, or weight loss may herald the onset of SHML. Table 1
Extranodal disease is found in 43 % of the cases sometimes associated with lymphadenopathy. The extranodal form of the disease is referred to the name RDD and can be found in the skin, soft tissue, bone followed be genitourinary tract, lower respiratory tract, and the oral cavity. Cerebral or spinal cord involvement is rare. The clinical presentation of cerebral RDD in children varies and depends on the location. Symptoms related to elevated intracranial pressure are the most frequent, followed by exophthalmus (Table 1).
Diagnosis Histologically, emperipolesis (lymphophagocytosis) is a characterizing feature in the diagnosis of SHML and RDD [14]. It means the finding of intact lymphocytes in histiocytes. Plasma
Comparison of 18 reported cases of intracranial RDD in children in chronological order
Age/gender
Symptoms
Location
Therapy
Course
Follow-up Year/author
13 years/f
Vomiting, fever
Left frontal dural based
Death
10 years
1982/[2]
5 years/m
Surgical partial removal steroids Biopsy chemotherapy Biopsy steroids
Asymptomatic
1 month
1993/[17]
nk Asymptomatic
nk 9 months
1999/[19] 1999 [18]
6 years/f
Cavernous sinus syndrome Exophthalmus ICP elevation amenorrhea Exophthalmus
Skull base Submandibular gland, trachea, eye, spinal cord Left cavernous sinus
Asymptomatic, in remission Death
12 months 1965/[5]
13 years/m
Surgical removal after progression autopsy
Skull base
Remission
30 month
2004/[16]
15 years/f
Exophthalmus
Skull base Falx
nk
nk
2004/[16]
9 years/f 9 years/m 15 years/m
Swelling Grand mal seizure ICP elevation, Visual deterioration ICP elevation
Left frontal bone meninx Right frontal dural based Bilateral petroclival
Asymptomatic Asymptomatic In remission
12 months 2004/[16] 18 months 2004/[9] 12 months 2006/[10]
Asymptomatic remission Asymptomatic nk
36 months 2008/[15]
Asymptomatic remission nk
49 months 2009/[6] nk
2011/[1]
nk nk Asymptomatic
nk nk 3 months
2011 [11] 2013/[3] 2015/presented case
10 years/m 15 years/f
8 years 14 years/m 2 years, 4 months/f 10 years/f
ICP elevation, ICP elevation ICP elevation
10 years/f
Pain in lower limbs
14 years/m 13 years/m 2 years, 10 months/f
Visual loss Ataxia Vomiting, fever
Skull base Suprasellar
Left hemisphere white matter cerebellar Dural based bifrontal, bony erosion Left white matter Spinal, right frontal brain stem, cerebellar Skull base Cerebellar, pontine Axial, ventricular
Surgical partial removal steroids chemotherapy irradiation Surgical partial removal steroids chemotherapy Surgical removal Surgical removal Surgical removal biopsy Surgical removal Surgical partial removal Interstitial irradiation Surgical partial removal Surgical partial removal no Surgical partial removal
The appearance of the disease shows little similarities. The mean age is 10 years f female, nk not known
12 months 2009/[12] nk 2009/[13]
Childs Nerv Syst
cells, neutrophils, and red blood cells may also be found in this unique location in the cytoplasm of histiocytes. Eosinophils are not a typical morphological finding of SHML, as compared with Langerhans cell histiocytosis, classical Hodgkin or T cell lymphoma. Immunohistochemistry of the histiocytes shows high positivity of S 100, CD68, HAM 56, CD14, CD46, and CD 15. In contrast to Langerhans cell histiocytosis, the staining is rarely positive for CD1a in SHML [14]. RDD manifests only in 7 % of the reported cases in the central nervous system [4]. The risk period is between the second and the sixth decade with a mean age at presentation of 39.4 years [7]. Most of the reported lesions are radiologically similar to meningiomas. They are described as hypointense in T2-weighted images and contrast-enhancing well-circumscribed lesion. Only two cases in children are described as deep-seated white matter lesions (Table 1). Only few cases of CNS–RDD are reported in children (Table 1), whereas the RDD in general is reported to be frequent in children [4]. Eighteen cases of intracranial RDD were found including the presented one. Mean age was 10 years. Most lesions were similar to meningiomas and found on the convexity or at the skull base.
Treatment and results The outcome was benign in most of the cases, but one death was reported [2]. The course of SHML is characterized by spontaneous resolution in most cases. Some patients may have episodes of exacerbation alternating with periods of remission that continue for many years, where timing and duration of each phase is entirely unpredictable. Seventeen out of 423 cases in a registry died of the disease or with the disease. Associated immune dysfunction leads to unfavorable outcome. Different treatment options were tried and only 50 % of the patients needed treatment at all [14]. Steroid therapy results in reduction of fever and lymphadenopathy. Antibiotic as well as anti-tuberculotic therapy is not effective. Radiation as well as different chemotherapeutic regimens have been tried with little response rates [14].
Fig. 1 Preoperative axial T1-weighted imaging with contrast enhancement. The lesion is axial and extends into the occipital horn of the left ventricle (star). Both frontal lobes are infiltrated around the frontal horn of the ventricles (arrows)
lift an object lying on the floor because she was not able to bend down. She had difficulties standing up after a fall. Neurological examination revealed absent patellar tendon reflexes and weakness in both legs. After 4 months, the child recovered without any treatment. Two weeks prior to our admission, the girl presented with high fever of up to 40 °C for 4 days and was admitted to another hospital because of episodes of vomiting. The situation worsened until the girl laid down and refused food and developed a deviated gaze and nystagmus. Lumbar tap disclosed 500 cells/μl with 88 % lymphocytes and 9 % monocytes and a glucose of 26 mg/ml. MRI studies of the head revealed a midline lesion, more extended to the left with invasion of the ventricular system from frontal to the occipital horn (Figs. 1 and 2). The lesion was homogenously contrast enhancing and isointense in T2weighted imaging. Spinal MRI was uneventful.
Exemplary case A 2-year and 10-month-old girl came to admission with the diagnosis of a bilateral brain tumor. The child was delivered 2 weeks before term because of maternal diabetes mellitus. The family history was uneventful. The child had a normal psychomotor development until 1 year and 10 months. At that time, the girl started complaining of difficulties in walking and easy fatigability. The parents described that she was unable to
Fig. 2 Preoperative sagittal T1-weighted MR imaging with contrast enhancement. The distribution of the lesion is clearly to be seen. On the right side, the close connection to the inner cerebral veins is visible (arrowheads). The lesion with its distribution along the frontal horns of the ventricles is marked with arrows. The star indicates the axial main lesion
Childs Nerv Syst
Dexamethasone treatment was initiated and resulted in a complete recovery of the girl. She was admitted to our hospital without any focal neurological deficit but an insecure gait. Lumbar puncture resulted in a white cell count of 39/μl with reactive cells and an elevated protein level of 79.5 mg/ dl. Leucocytes were elevated in the blood to a level of 52.030 cells/μl with a normal differentiation and an increase in immature granulocytes. Thrombocytes were elevated up to 664.000/μl. Hormones and β-HCG as well as α-fetoprotein were in normal limits. Bone marrow examination ruled out leukemia. A parieto-occiptal craniotomy was performed, and a partial excision of the ventricular part in the left occipital horn was performed. During surgery, a solid lesion could be resected. Fresh frozen section suggested a nonneoplastic disease. Final histology confirmed by the reference center, the Neuropathology of the University Hospital in Muenster/Germany, documented emperipolesis and staining for S-100 and CD68 and absent staining for CD1a. Thus, the diagnosis Rosai–Dorfman disease was stated. This child is among the youngest cases described until now (Table 1). The course was completely uneventful with a follow-up of 16 months and a normal development without any neurological deficits.
Summary and management recommendation RDD is rare as an intracranial disease in children and was described to be radiologically similar to meningiomas. The presented cases demonstrate that it can be very different in radiological appearance. Histological examination as well as confirmation of a reference pathological center is mandatory in the establishment of the diagnosis of Rosai–Dorfman disease. Due to the commonly benign course and the possible spontaneous remission, postoperative medical treatment should only be initiated if symptomatic. The first choice is a shortcourse steroid treatment, followed by oncological treatment modalities, of which none is proven to be 100 % effective. Rosai–Dorfman disease must be considered as a differential diagnosis in parenchymal, axial, and ventricular as well as dural-based lesions.
References 1. Antuna Ramos A, Alvarez Vega MA, Alles JV, Antuna Garcia MJ, Meilan Martinez A (2011) Multiple involvement of the
central nervous system in Rosai-Dorfman disease. Pediatr Neurol 46:54–56 2. Buchino JJ, Byrd RP, Kmetz DR (1982) Disseminated sinus histiocytosis with massive lymphadenopathy: its pathologic aspects. Arch Pathol Lab Med 106:13–16 3. Candeias da Silva C, Pedroso JL, Moraes FM, Rivero RL, Callegari FM, Araujo F Jr, Toso FF, Stavale JN, Barsottini OG (2013) Teaching neuro images: Rosai-Dorfman disease presenting with progressive early-onset cerebellar ataxia. Neurology 81:e27–e28 4. Destombes P (1965) Adenitis with lipid excess, in children or young adults, seen in the Antilles and in Mali. Four cases. Bull Soc Pathol Exot Fil 58:1169–1175, French 5. Di Rocco F, Garnett MR, Puget S, Pueyerredon F, Roujeau T, Jaubert F, Sainte-Rose C (2007) Cerebral localization of Rosai-Dorfman disease in a child. Case report. J Neurosurg 107:147–151 6. El Majdoub F, Brunn A, Berthold F, Sturm V, Maarouf M (2009) Stereotactic interstitial radiosurgery for intracranial Rosai-Dorfman disease. A novel therapeutic approach. Strahlenther Onkol 185:109– 112 7. Foucar E, Rosai J, Dorfman R (1990) Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorman disease: review of the entity). Semin Diagn Pathol 7:19–73 8. Foucar E, Rosai J, Dorfman RF, Brynes RK (1982) The neurologic manifestations of sinus histiocytosis with massive lymphadenopathy. Neurology 32:365–372 9. Griffiths SJ, Tang W, Parameswaran R, Kelsey A, West CG (2004) Isolated intracranial Rosai-Dorfman disease mimicking meningioma in a child. Br J Neurosurg 18:293–297 10. Gupta DK, Suri A, Mahapatra AK, Mehta VS, Garg A, Sarkar C, Ahmad FU (2006) Intracranial Rosai-Dorfman disease in a child mimicking bilateral giant petroclival meningiomas: a case report and review of literature. Childs Nerv Syst 22:1194–1200 11. Gupta K, Bagdi N, Sunitha P, Ghosal N (2011) Isolated intracranial Rosai-Dorfman disease mimicking meningioma in a child: a case report and review of the literature. Br J Radiol 84:e138–e141 12. Johnston JM, Limbrick DD, Ray WZ, Brown S, Shimony J, Park TS (2009) Isolated cerebellar Rosai-Dorfman granuloma mimicking Lhermitte-Duclos disease. Case report. J Neurosurg Pediatr 4:118– 120 13. Lungren MP, Petrella JR, Cummings TJ, Grant GA (2009) Isolated intracranial Rosai-Dorfman disease in a child. AJNR Am J Neuroradiol 30:E148–E149 14. McClain KL, Natkunam Y, Swerdlow SH (2004) Atypical cellular disorders. Hematol Am Soc Hematol Educ Program: 283–296 15. Miletic H, Rohling R, Stenzel W, Deckert M, Benz-Bohm G, Berthold F, Voges J (2008) 8-year-old child with a lesion in the left nucleus lentiformis. Brain Pathol 18:598–601 16. Rodriguez-Galindo C, Helton KJ, Sanchez ND, Rieman M, Jeng M, Wang W (2004) Extranodal Rosai-Dorfman disease in children. J Pediatr Hematol Oncol 26:19–24 17. Shaver EG, Rebsamen SL, Yachnis AT, Sutton LN (1993) Isolated extranodal intracranial sinus histiocytosis in a 5-year-old boy. Case report. J Neurosurg 79:769–773 18. Woodcock RJ Jr, Mandell JW, Lipper MH (1999) Sinus histiocytosis (Rosai-Dorfman disease) of the suprasellar region: MR imaging findings—a case report. Radiology 213:808–810 19. Zannolli R, Acquaviva A, Polito E, Galluzzi P, Ferrari F, Leoncini L, Luzi P, Morgese G (1999) Pathological case of the month. Multifocal Rosai-Dorfman disease of soft tissue. Arch Pediatr Adolesc Med 153: 1199–1200
CASE-BASED UPDATE
Cerebral Rosai–Dorfman disease Wolf Lüdemann & Rouzbeh Banan & Amir Samii & Michalis Koutzoglou & Concezio Di Rocco
Received: 3 January 2015 / Accepted: 3 February 2015 # Springer-Verlag Berlin Heidelberg 2015
Abstract Background Sinus histiocytosis (Rosai–Dorfman disease) with massive lymphadenopathy is a rare nonneoplastic and nonlangerhans cell proliferation disorder of the histiocytes. Extranodal location with or without lymphadenopathy occurs in about 40 % of the cases. Intracranial location is rare in children often mimicking meningiomas. The parasphenoidal region is more frequently involved though intraxial or intraventricular locations were described as well. Rarely, the surgical treatment allows the complete excision of the lesion; however, in symptomatic cases, partial resections of the tumor allow to counteract its mass effect. Long survivals are possible, even without radiotherapy or chemotherapy, due to the frequent spontaneous benign evolution of the lesions. Case report A 2-year-10-month-old girl presented with high fever and vomiting. One year ago, she had a period of muscular weakness in both legs that recovered completely. MRI of the brain revealed an axial enhancing lesion with ventricular spreading mainly to the left occipital horn and bilateral frontal periventricular infiltration. After steroid therapy, all the symptoms recovered. Partial removal of the occipital intraventricular lesion was performed and the diagnosis of Rosai– Dorfman disease was established and confirmed by the reference center. At the latest follow-up (16 months),
W. Lüdemann (*) : R. Banan : A. Samii : C. Di Rocco Pediatric Neurosurgery, International Neuroscience Institute, Rudolf Pichlmayrstr. 4, 30625 Hannover, Germany e-mail: [email protected] M. Koutzoglou Department of Neurosurgery, Aglaia Kyriakou National Hospital for Children, 11527 Athens, Greece
the girl is without any neurological symptoms and without any treatment. Keywords Brain . Child . Histiocytosis . Sinus histiocytosis . Histiocytic proliferative disorder . Magnetic resonance imaging . Surgical treatment
Introduction Histiocytic disorders are classified as malignant/neoplastic types or as nonmalignant types. Lange rhans cell histiocytosis belongs to the malignant/neoplastic type. Rosai–Dorfmann disease (RDD) on the other hand is a rare disorder of unknown etiology characterized by a nonmalignant proliferation of histiocytes that can be located in the lymph nodes or extranodal. Painless bilateral lymphadenopathy is the classical presentation in the majority of the patients [8].
Historical background In 1965, Destombes reported on a form of adenitis with lipid excess occurring in children or young adults in the Antilles and Mali population [4]. The nodal disease, also referred to as sinus histiocytosis with massive lymphadenopathy (SHML), was first described with this name in 1969 [8]. Thanks to the pioneering work of the pathologists Juan Rosai and Ronald Dorfman, who established the clinicopathological entity as well as a worldwide registry to catalogue cases of SHML, the disease was named after them as Rosai–
Childs Nerv Syst
Dorfman disease, especially when referring to the extranodal type [8].
Clinical presentation Painless bilateral lymphadenopathy is the classical presentation in 83 % of the patients [8]. The disease occurs worldwide without any specific gender or socioeconomic predilection; it is reported to be less common in Asian descent, if compared with Caucasians and African descents. Rarely, familiar cases have been reported. The involved lymph nodes are most frequently the cervical ones followed by axillary, para-aortic, inguinal, and mediastinal [14]. Nonspecific fevers as well as pharyngitis, malaise, pain, night sweat, or weight loss may herald the onset of SHML. Table 1
Extranodal disease is found in 43 % of the cases sometimes associated with lymphadenopathy. The extranodal form of the disease is referred to the name RDD and can be found in the skin, soft tissue, bone followed be genitourinary tract, lower respiratory tract, and the oral cavity. Cerebral or spinal cord involvement is rare. The clinical presentation of cerebral RDD in children varies and depends on the location. Symptoms related to elevated intracranial pressure are the most frequent, followed by exophthalmus (Table 1).
Diagnosis Histologically, emperipolesis (lymphophagocytosis) is a characterizing feature in the diagnosis of SHML and RDD [14]. It means the finding of intact lymphocytes in histiocytes. Plasma
Comparison of 18 reported cases of intracranial RDD in children in chronological order
Age/gender
Symptoms
Location
Therapy
Course
Follow-up Year/author
13 years/f
Vomiting, fever
Left frontal dural based
Death
10 years
1982/[2]
5 years/m
Surgical partial removal steroids Biopsy chemotherapy Biopsy steroids
Asymptomatic
1 month
1993/[17]
nk Asymptomatic
nk 9 months
1999/[19] 1999 [18]
6 years/f
Cavernous sinus syndrome Exophthalmus ICP elevation amenorrhea Exophthalmus
Skull base Submandibular gland, trachea, eye, spinal cord Left cavernous sinus
Asymptomatic, in remission Death
12 months 1965/[5]
13 years/m
Surgical removal after progression autopsy
Skull base
Remission
30 month
2004/[16]
15 years/f
Exophthalmus
Skull base Falx
nk
nk
2004/[16]
9 years/f 9 years/m 15 years/m
Swelling Grand mal seizure ICP elevation, Visual deterioration ICP elevation
Left frontal bone meninx Right frontal dural based Bilateral petroclival
Asymptomatic Asymptomatic In remission
12 months 2004/[16] 18 months 2004/[9] 12 months 2006/[10]
Asymptomatic remission Asymptomatic nk
36 months 2008/[15]
Asymptomatic remission nk
49 months 2009/[6] nk
2011/[1]
nk nk Asymptomatic
nk nk 3 months
2011 [11] 2013/[3] 2015/presented case
10 years/m 15 years/f
8 years 14 years/m 2 years, 4 months/f 10 years/f
ICP elevation, ICP elevation ICP elevation
10 years/f
Pain in lower limbs
14 years/m 13 years/m 2 years, 10 months/f
Visual loss Ataxia Vomiting, fever
Skull base Suprasellar
Left hemisphere white matter cerebellar Dural based bifrontal, bony erosion Left white matter Spinal, right frontal brain stem, cerebellar Skull base Cerebellar, pontine Axial, ventricular
Surgical partial removal steroids chemotherapy irradiation Surgical partial removal steroids chemotherapy Surgical removal Surgical removal Surgical removal biopsy Surgical removal Surgical partial removal Interstitial irradiation Surgical partial removal Surgical partial removal no Surgical partial removal
The appearance of the disease shows little similarities. The mean age is 10 years f female, nk not known
12 months 2009/[12] nk 2009/[13]
Childs Nerv Syst
cells, neutrophils, and red blood cells may also be found in this unique location in the cytoplasm of histiocytes. Eosinophils are not a typical morphological finding of SHML, as compared with Langerhans cell histiocytosis, classical Hodgkin or T cell lymphoma. Immunohistochemistry of the histiocytes shows high positivity of S 100, CD68, HAM 56, CD14, CD46, and CD 15. In contrast to Langerhans cell histiocytosis, the staining is rarely positive for CD1a in SHML [14]. RDD manifests only in 7 % of the reported cases in the central nervous system [4]. The risk period is between the second and the sixth decade with a mean age at presentation of 39.4 years [7]. Most of the reported lesions are radiologically similar to meningiomas. They are described as hypointense in T2-weighted images and contrast-enhancing well-circumscribed lesion. Only two cases in children are described as deep-seated white matter lesions (Table 1). Only few cases of CNS–RDD are reported in children (Table 1), whereas the RDD in general is reported to be frequent in children [4]. Eighteen cases of intracranial RDD were found including the presented one. Mean age was 10 years. Most lesions were similar to meningiomas and found on the convexity or at the skull base.
Treatment and results The outcome was benign in most of the cases, but one death was reported [2]. The course of SHML is characterized by spontaneous resolution in most cases. Some patients may have episodes of exacerbation alternating with periods of remission that continue for many years, where timing and duration of each phase is entirely unpredictable. Seventeen out of 423 cases in a registry died of the disease or with the disease. Associated immune dysfunction leads to unfavorable outcome. Different treatment options were tried and only 50 % of the patients needed treatment at all [14]. Steroid therapy results in reduction of fever and lymphadenopathy. Antibiotic as well as anti-tuberculotic therapy is not effective. Radiation as well as different chemotherapeutic regimens have been tried with little response rates [14].
Fig. 1 Preoperative axial T1-weighted imaging with contrast enhancement. The lesion is axial and extends into the occipital horn of the left ventricle (star). Both frontal lobes are infiltrated around the frontal horn of the ventricles (arrows)
lift an object lying on the floor because she was not able to bend down. She had difficulties standing up after a fall. Neurological examination revealed absent patellar tendon reflexes and weakness in both legs. After 4 months, the child recovered without any treatment. Two weeks prior to our admission, the girl presented with high fever of up to 40 °C for 4 days and was admitted to another hospital because of episodes of vomiting. The situation worsened until the girl laid down and refused food and developed a deviated gaze and nystagmus. Lumbar tap disclosed 500 cells/μl with 88 % lymphocytes and 9 % monocytes and a glucose of 26 mg/ml. MRI studies of the head revealed a midline lesion, more extended to the left with invasion of the ventricular system from frontal to the occipital horn (Figs. 1 and 2). The lesion was homogenously contrast enhancing and isointense in T2weighted imaging. Spinal MRI was uneventful.
Exemplary case A 2-year and 10-month-old girl came to admission with the diagnosis of a bilateral brain tumor. The child was delivered 2 weeks before term because of maternal diabetes mellitus. The family history was uneventful. The child had a normal psychomotor development until 1 year and 10 months. At that time, the girl started complaining of difficulties in walking and easy fatigability. The parents described that she was unable to
Fig. 2 Preoperative sagittal T1-weighted MR imaging with contrast enhancement. The distribution of the lesion is clearly to be seen. On the right side, the close connection to the inner cerebral veins is visible (arrowheads). The lesion with its distribution along the frontal horns of the ventricles is marked with arrows. The star indicates the axial main lesion
Childs Nerv Syst
Dexamethasone treatment was initiated and resulted in a complete recovery of the girl. She was admitted to our hospital without any focal neurological deficit but an insecure gait. Lumbar puncture resulted in a white cell count of 39/μl with reactive cells and an elevated protein level of 79.5 mg/ dl. Leucocytes were elevated in the blood to a level of 52.030 cells/μl with a normal differentiation and an increase in immature granulocytes. Thrombocytes were elevated up to 664.000/μl. Hormones and β-HCG as well as α-fetoprotein were in normal limits. Bone marrow examination ruled out leukemia. A parieto-occiptal craniotomy was performed, and a partial excision of the ventricular part in the left occipital horn was performed. During surgery, a solid lesion could be resected. Fresh frozen section suggested a nonneoplastic disease. Final histology confirmed by the reference center, the Neuropathology of the University Hospital in Muenster/Germany, documented emperipolesis and staining for S-100 and CD68 and absent staining for CD1a. Thus, the diagnosis Rosai–Dorfman disease was stated. This child is among the youngest cases described until now (Table 1). The course was completely uneventful with a follow-up of 16 months and a normal development without any neurological deficits.
Summary and management recommendation RDD is rare as an intracranial disease in children and was described to be radiologically similar to meningiomas. The presented cases demonstrate that it can be very different in radiological appearance. Histological examination as well as confirmation of a reference pathological center is mandatory in the establishment of the diagnosis of Rosai–Dorfman disease. Due to the commonly benign course and the possible spontaneous remission, postoperative medical treatment should only be initiated if symptomatic. The first choice is a shortcourse steroid treatment, followed by oncological treatment modalities, of which none is proven to be 100 % effective. Rosai–Dorfman disease must be considered as a differential diagnosis in parenchymal, axial, and ventricular as well as dural-based lesions.
References 1. Antuna Ramos A, Alvarez Vega MA, Alles JV, Antuna Garcia MJ, Meilan Martinez A (2011) Multiple involvement of the
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