Brain Pathology Case of the Month - August 2008

DIAGNOSIS

Non-Langerhans cell histiocytosis corresponding to Erdheim-Chester Disease (ECD). The patient was discharged home without further deficit. Follow-up MRI displayed no evidence of tumor recurrence. The patient remains under clinical observation for systemic lesions with periodic Technetium99 bone scan.

DISCUSSION

Erdheim-Chester Disease (ECD) is a member of the group of diseases known as Histiocytosis, encompassing a broad spectrum of mainly systemic diseases (bone and visceral) whose features depend mainly on the presence or absence of dendritic Langerhans cells. ECD lacks systemic symptoms (as do Rosai-Dorfman disease (RDD), Hemophagocytic lymphohistiocytosis, Juvenile xanthogranuloma and choroid plexus xanthogranuloma) and can present as a tumor -or tumor-like mass- in the central nervous system (CNS). (10)

Systemic (15,1), skeletal (9, 5, 14) or extraskeletal involvement,(7, 13) may be present. More rarely the disease is initially diagnosed as a solitary mass in the CNS (16) , and later on when the patient is usually fully scanned, systemic involvement is detected.(3) In our case, the patient presented a solitary CNS mass, and has remained under follow up for other lesions since the neurosurgical resection.

In terms of the histological assessment, this case showed typical features as described in other reports. (16, 14) However, two issues merit further discussion: first, although occasional multinucleated cells were observed, no typical Touton giant cells were detected as previously reported by other authors.(16, 15, 3) This is in agreement with other series describing complete absence of Touton giant cells (12), or the presence in some cases of only a single cell (9). Second, although the lesion was CD68 positive and CD1a negative, i.e. presented the expected immunophenotype- (12, 3, 16, 1); occasional cells were S100 positive, demonstrating once again the controversy surrounding use of this immunostain for histiocytosis characterization.(9) In most reports S100 was negative,(16, 15, 3) however, a few articles have been published in which it was weakly or occasionally positive.(1, 14, 17)

With reference to differential diagnoses, two important neoplastic proliferations must be considered: Langerhans Cell Histiocytosis (LCH) and Rosai-Dorfman Disease (RDD); even though the former can also present as a solitary CNS mass (4), it usually shows different immunophenotype from ECD (namely CD1a+, S100- and CD68-); the latter shows strong CD68 and S100 positivity, can clinically affect the CNS but usually presents with lymphadenopathy, fever and hypergammaglobulinemia,(16) and although isolated intracranial cases without systemic involvement have been also reported (11, 8, 2, 6), the lack of emperipolesis in our case, as well as the absence of common clinical features such as lymphadenopathy or fever, and the presence of only isolated positive S100 cells allowed us to rule out RDD.

REFERENCES

  1. Adle-Biassette H, Chetritt J, Bergemer-Fouquet AM, Wechsler J, Mussini JM, Gray F (1997) Pathology of the Central Nervous System in Chester-Erdheim Disease: Report of Three Cases. J Neuropathol Exp Neurol.56:1207-16.
  2. Andriko J, Morrison A, Colegial CH, Davis BJ, Jones RV (2001) Rosai-Dorfman disease isolated to the central nervous system: a report of 11 cases. Mod Pathol.14:172-8.
  3. Babu RP LT, Chadburn A, Kasoff SS (1997) Erdheim-Chester disease of the central nervous system. Report of two cases. J Neurosurg.86:888-92.
  4. Bergmann M, Yuan Y, Brück W, Palm KV, Rohkamm R. (1997) Solitary Langerhans cell histiocytosis lesion of the parieto-occipital lobe: a case report and review of the literature. Clin Neurol and Neurosurg; 99:50-5.
  5. Bohlega S, Alwatban J, Tulbah A, Bakheet SM, Powe J (1997) Cerebral manifestation of Erdheim-Chester disease: Clinical and radiologic findings. Neurology.49:1702-5.
  6. Deodhare S, Ang LC, Bilbao JM (1998) Isolated intracranial involvement in Rosai-Dorfman disease: a report of two cases and review of the literature. Arch Pathol Lab Med.122:161-5.
  7. Fink M, Levinson DJ, Brown NL, Sreekanth S, Sobel GW (1991) Erdheim-Chester disease. Case report with autopsy findings. Arch Pathol Lab Med.115(6):619-23.
  8. Huang H, Huang CC, Lui CC, Chen HJ, Chen WJ (1998) Isolated intracranial Rosai-Dorfman disease: case report and literature review. Pathol Int.48:396-402.
  9. Kenn W, Eck M, Allolio B, Jakob F, Illga A, Marx A, Mueller-Hermelink HK, Hahn D (2000) Erdheim-Chester Disease: Evidence for a Disease Entity Different From Langerhans Cell Histiocytosis? Three Cases With Detailed Radiological and Immunohistochemical Analysis. Hum Pathol.31(6): 734-739.
  10. Kleihues P, Cavenee WK (2000) Pathology and Genetics of Tumours of the Nervous System, IARC Press: Lyon: pp 193-196.
  11. Konishi E, Ibayashi N, Yamamoto S, Scheithauer BW (2003) Isolated Intracranial Rosai-Dorfman Disease (Sinus Histiocytosis with Massive Lymphadenopathy). AJNR Am J Neuroradiol.24:515-8.
  12. Lachenal F, Cotton F, Desmurs-Clavel H, Haroche J, Taillia H, Magy N, Hamidou M, Salvatierra J, Piette JC, Vital-Durand D, Rousset H (2006) Neurological manifestations and neuroradiological presentation of Erdheim-Chester disease: report of 6 cases and systematic review of the literature. J Neurol.253(10):1267-77.
  13. Miller R, Sheeler LR, Bauer TW, Bukowski RM (1986) Erdheim-Chester disease. Case report and review of the literature. Am J Med.80(6):1230-6.
  14. Ono K, Oshiro M, Uemura K, Ota H, Matsushita Y, Ijima S, Iwase T, Uchida M, Katsuyama T. (1996) Erdheim-Chester disease: a case report with immunohistochemical and biochemical examination. Hum Pathol.27:91-5.
  15. Oweity T, Scheithauer BW, Ching HS, Lei CMC, Wong KP. (2002) Multiple system Erdheim-Chester disease with massive hypothalamic-sellar involvement and hypopituitarism. Case report and review of the literature. J Neurosurg.96:344-51.
  16. Rushing E, Bouffard JP, Neal CJ, Koeller K, Martin J, Ozdemirli M, Mena H, Ecklund JM (2004) Erdheim-Chester disease mimicking a primary brain tumor. Case report. J Neurosurg.100(6):1115-8.
  17. Shimada A, Ono K, Hashizume Y, Nakaguro M, Mori N. (2007) Intracranial lesion of Erdheim-Chester disease. Hum Pathol.38:950-4.

Contributed by Naomi Arakaki, MD; Miguel A. Riudavets, MD; Andrés Cervio, MD; Marcelo Ferreira, MD; Gustavo Sevlever, MD, PhD.

International Society of Neuropathology