NEUROLOGICAL MANIFESTATIONS OF THE ERDHEIM CHESTER DISEASE:

MRI FEATURES

S BOUABIDI, S JERBI OMEZZINE, Z KHADIMALLAH K MRAIDHA, B ZANTOUR* , HA HAMZA

DEPARTEMENT OF MEDICAL IMAGING TAHAR SFAR UNIVERSITY HOSPITAL CENTER, MAHDIA,TUNISIA

*DEPARTEMENT OF INTERNAL MEDICINE TAHAR SFAR UNIVERSITY HOSPITAL CENTER,MAHDIA,TUNISIA

NR8

INTRODUCTION

A rare multisystem non Langerhans cell histiocytosis

First described by Jakob Erdheim 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.

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.

We report the case of adult-onset ECD with neurologic involvement

To study the MRI appearance of neurological lesions

Materials and methods :

A 50 year old woman Consulted for a polyuria-polydipsia syndrome Physical examination was normal except the presence of a xanthelasma lesions on the eyelidsA water restriction and a DHA test concluded to a central diabetes insipidus X -Rays , Brain MRI centered on the hypothalamic-pituitary axis were performed

Femur X –rays: Symmetric metaphyseal osteosclerosis

MRI brain showed:

Diffuse infiltration of the pituitary stalk massively enhanced after gadolinium injection

Disappearance of the normal T1 hyperintensity of the post hypophysis

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

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

Pituitary MRI, sagittal T1GADO:Diffuse thickening of the pituitary stalk massively enhanced with gadolinium

Homogeneous enhancement of the posterior hypophysis

Characterestic radiological findings

+Histological features (a skin biopsy ) with a proliferation of foamy histiocytes that stain for CD68 but not CD1a

Confirmed the diagnosis

Discussion

ECD is a rare disease

A non-Langerhans' cell histiocytosis Defined by infiltration of foamy lipid-laden histiocytes that stain positively for CD68

With characteristic radiological and

histological features

Discussion

Extraskeletal manifestations including involvement of:

Hypothalamus-pituitary axis: diabetes insipidus Lung :diffuse pulmonary fibrosis Heart Retroperitoneum Skin Orbit Liver, Kidneys, Spleen

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

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.

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

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

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

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

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

Conclusion:

Erdheim Chester disease is a rare non-Langerhans Histiocytosis Characterized by a bilateral symmetric sclerosis of the diametaphyseal regions of long bones

With various extraskeletal manifestationsThe hypothalamic location was found in 40% of intracranial locationsThe typical features on imaging are often the basis of diagnosis, and should be well knownThe disease is typically relentless in its course.

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