IMAGING FINDINGS OF GAUCHER DISEASE IN ALL OVER THE BODY
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1 IMAGING FINDINGS OF GAUCHER DISEASE IN ALL OVER THE BODY V. Katsaros 1, P. Lampropoulou 2, M. Mitropoulou 1, A. Nikolaou 1, C. Drossos 2 Departments of CT and MRI 1 IKA Oncology Hospital and 2 Athens General Hospital, Greece
2 PURPOSE The review of imaging findings especially of Computerized Tomography (CT) and Magnetic Resonance Imaging (MRI) in Gaucher s disease all over the body. The presentation of volumetric imaging and evaluation of the spleen by multi slice CT, as a diagnostic tool in the follow up of Gaucher s disease after therapeutic interventions.
3 INTRODUCTION 1) Gaucher s disease is a lysosomal storage disease of glucosylceramidase (glucocerebroside), due to inherited defect of acid betaglucosidase activity, which is necessary for decomposition of this substance. 2) It emerges with three different phaenotypic types: a) Type 1 (classic Gaucher s disease) b) Type 2 (infantile form with bad prognosis) c) Type 3 (intermediate form)
4 INTRODUCTION 3) It is peculiar prevalent in the race of Ashkenazi Jews (1/2500 births) and less prevalent in the rest of population (0,005% of births). 4) The life expectancy of the disease is variable, depending on the disease s type and visceral involvement (liver spleen lungs heart). 5) Treatment is either symptomatic or etiologic (enzyme replacement therapy or bone marrow transplantation).
5 CLINICAL SIGNS AND SYMPTOMS Skeletal : Acute bone pain, pathological fractures, fever, regional lymphadenopathy, which are conjugated by imaging findings of osteoporosis, widening of tubular bones, regional osteolytic lesions, aseptic necrosis and osteoarthritic type epiphyseal lesions.
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8 CLINICAL SIGNS AND SYMPTOMS Visceral : Hepatomegaly in the order of % of the normal liver size (it has been described in extraordinary cases proliferation to 10 times of the liver volume). Splenomegaly with subsequent anemia and thrombopenia Cardiac features as cardiomyopathy Pulmonary features as pulmonary hypertension and Pericarditis
9 Hepatomegaly
10 Splenomegaly
11 Cardiomyopathy
12 Reticulonodular Pattern throughout the lung fields
13 Diffuse, coarse, reticulonodular pattern throughout the lung fields
14 Pericarditis
15 CLINICAL SIGNS AND SYMPTOMS Dermatologic features as melanchrosis and ichthyosis. Increased occurrence of neoplasms as multiple myeloma, chronic lympogenic leukemia, Hodgkin and non-hodgkin lymphoma. CNS features, as thickening of the meninges The clinical picture of the disease is mainly due to accumulation of many enlarged macrophages, in which the undestructed material of sphingolipids is deposited (Gaucher s cells) in the liver, the spleen, the bone marrow and the skeleton of the patients.
16 Multiple Myeloma STIR T1-W T1-W Fs +Gd
17 Thickening of the left side of the tentorium Normal white matter myelination for 6-month old
18 SPLEEN AND GAUCHER S S DISEASE Splenomegaly is a constant finding of Gaucher s disease and the degree of it os proportional of the degree of splenic hyperfunction. The enlargement of the organ is commonly 20 times the normal splenic size (and can in extreme case reach 75 times of the normal splenic volume) Frequently splenomegaly is associated by hypocapsular infarcts, fibrotic areas in the splenic parenchyma, as well as regions of accumulated Gaucher s cells.
19 PATIENTS AND METHODS The last 10 years in our institutions were examined 35 patients with Gaucher s disease either by CT, MRI, or both methods. The routine protocol of abdomen MRI includes transverse Τ1-weighted, Τ2-weighted HASTE, T1- weighted fat-saturation, T2* weighted fat-saturation, coronal Τ2-HASTE images, as well as contrast enhanced Τ1-weighted sequences (Gd- 0.2 ml/kg body weight). The multi-slice CT protocol includes axial slices of 5 mm thickness, followed by 3-D reconstruction and volumetric evaluation of the spleen.
20 CT AND MRI FINDINGS CΤ : a) Splenomegaly of various degree b) Multiple hypoattenuating, nodular lesions in the splenic parenchyma, which do not enhance after intravenous administration of contrast agent. MRI: a) Multiple nodular lesions in the splenic parenchyma or in the periphery of the organ hypointense in Τ1 weighted sequences and of various pathologic intensity in Τ2 weighted sequences b) They do not enhance after intravenous administration of gadolinium chelates.
21 IMAGING FINDINGS OF SPLENIC LESIONS IN Τ2 WEIGHTED IMAGES Normally hypointense with small central regions (accumulation of Gaucher s cells). A small number of lesions show hyperintensity (enlarged colpoids). Frequently lesions show low signal intensity centrally surrounded by a hyperintense ring (accumulation of Gaucher s cells in combination with enlarged colpoids and fibrotic regions)
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26 VOLUMETRIC EVALUATION OF THE SPLEEN a) Appearance of workstation b) The images of one patient are uploaded (constant parameters: slice thickness,gantry height, Bed height, Magnification level and Reconstruction center).
27 VOLUMETRIC EVALUATION OF THE SPLEEN c) The system is reconstructing in coronal, sagittal and axial plane, MPR/MIP images are also available d) At last we proceed to the Planning, either free-hand or elliptical, of the contour of the region or volume of interest
28 e) Choosing Start Evaluation button the system calculates the volume showing us the table of results.
29 The volumetric evaluation of the spleen in Gaucher s is an important diagnostic tool in the follow-up of patients treated by enzyme replacement therapy, as the splenic volume is proportional to the severity of the disease
30 CONCLUSIONS -Gaucher s disease can be imaged in all over the body. -Splenomegaly and focal abnormalities of the spleen are due to Gaucher cells accumulation in combination with infarcts, enlarged colpoids and fibrotic regions. - Imaging findings of Gaucher s disease are characteristic, especially in MRI. - The volumetric evaluation of the spleen is considered as necessary in every imaging control of patients with Gaucher s disease, as there is a proportional relationship between the volume of the organ and the disease severity.
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