NR8

1. NR8 Neurological Manifestations Of THE Erdheim Chester Disease: MRI FeaturesS Bouabidi, S Jerbi Omezzine, Z KhadimallahK Mraidha, B Zantour* , HA HamzaDepartement of medicalimaging Tahar SfarUniversityHospital Center, Mahdia,Tunisia *Departement of internalMedicine Tahar SfarUniversityHospitalCenter,MAHDIA,TUNISIA

2. INTRODUCTION • A rare multisystem non Langerhans cell histiocytosis • First described by JakobErdheim and William Chester in 1930 • Since then less than 100 cases have been reported • Defined by the xanthomatous or xanthogranulomatous infiltration of tissues with foamy histiocytes, surrounded by fibrosis.

3. Clear increase in its incidence due a better understanding of its radiological semiology. • The aetiology remains unknown • The disease can affect multiple organs systems, including musculoskeletal, central nervous, cardiac, pulmonary and renal systems • The most common neurologic manifestation is central diabetes insipidus.

4. We report the case of adult-onset ECD with neurologic involvement • To study the MRI appearance of neurological lesions

5. Materials and methods : • A 50 yearoldwoman • Consulted for a polyuria-polydipsia syndrome • Physicalexaminationwas normal except the presence of a xanthelasmalesions on the eyelids • A water restriction and a DHA test concluded to a central diabetesinsipidus • X -Rays , Brain MRI centered on the hypothalamic-pituitary axis wereperformed

6. Femur X –rays: Symmetric metaphyseal osteosclerosis • MRI brainshowed: • Diffuse infiltration of the pituitarystalkmassivelyenhancedafter gadolinium injection • Disappearance of the normal T1 hyperintensity of the post hypophysis

7. Pituitary MRI, coronal T1:Homogeneous diffuse thickening of the pituitary stalk Normal cavernous sinus ( )

8. Pituitary MRI, coronal T1 GADO:Diffuse intense enhancement of the pituitary stalk( )

9. Pituitary MRI, sagittal T1GADO:Diffuse thickening of the pituitary stalk massively enhanced with gadolinium Homogeneous enhancement of the posterior hypophysis

10. Characteresticradiologicalfindings • + • Histologicalfeatures (a skin biopsy ) with a proliferation of foamy histiocytes thatstain for CD68 but not CD1a • Confirmed the diagnosis

11. Discussion • ECD is a rare disease • A non-Langerhans' cell histiocytosis • Defined by infiltration of foamy lipid-laden histiocytesthatstainpositively for CD68 • With characteristicradiological and histologicalfeatures

12. Discussion • Extraskeletal manifestations includinginvolvement of: • Hypothalamus-pituitary axis: diabetes insipidus • Lung :diffuse pulmonary fibrosis • Heart • Retroperitoneum • Skin • Orbit • Liver, Kidneys, Spleen

13. Discussion • Characterized by a bilateral symmetric sclerosis of the diametaphyseal regions of long bones • Radiographic studies reveal: • Bilateral, patchy or diffuse increase in density • Sclerosis, and cortical thickening • Mainly in the metaphyses • Minor changes or sparing of the epiphyses

14. Discussion • Neurologic Manifestations: • The most common neurologic manifestation is a central diabetes insipidus • The hypothalamic location was found in 40% of intracranial locations • Next in frequency is cerebellar symptoms, usually ataxia of gait.

15. MRI of the brain in patients with neurologic symptoms demonstrates: • Intra-axial lesions with T2 hyperintensity • Often intense gadolinium enhancement • The MRI findings mimic a demyelinating process and are often confused with multiple sclerosis

16. The MRI findings in patients with diabetes insipidus vary: • Often no structural changes are seen • Loss of the normal T1 hyperintensity of the posterior pituitary • Pituitary enhancement • Enlargement of the infundibulum

17. Orbital Manifestations • Infiltration of the retroconal fat • Optic nerve sheath • Retrobulbar, intraconal masses Retroperitoneal Manifestations • Fat stranding • Soft tissue masses • Hydronephrosis leading to renal failure and hypertension • Periaortic fibrosis

18. Pulmonary Manifestations: • The most common symptom is progressive dyspnea • Chest X-Rays :diffuse interstitial prominence and pleural thickening • CT typically shows: • interlobular septal • pleural thickening • patchy centrilobular ground glass opacities

19. Prognosis and Therapy: • Related to the extent of visceral involvement • Most patients die within two to three years after diagnosis congestive heart failure, lung fibrosis or renal insufficiency • Treatment options: corticosteroids, radiotherapy, combination therapy • None have been highly effective • The disease is typically relentless in its course

20. Conclusion: • Erdheim Chester disease is a rare non-Langerhans Histiocytosis • Characterized by a bilateral symmetric sclerosis of the diametaphyseal regions of long bones • With variousextraskeletal manifestations • The hypothalamic location was found in 40% of intracranial locations • The typical features on imaging are often the basis of diagnosis, and should be well known • The disease is typically relentless in its course.

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