Suvimol Adrian

C. Hill, MD M. Di Bisceglie,

Gaucher Findings

Bonita MD

M. Damaska, RT Roscoe 0. Brady,

#{149}

Disease: Abdominal in 40 Patients’

Abdominal magnetic resonance imaging findings were reviewed in 46 patients with Gaucher disease. All patients had hepatosplenomegaly at the time of initial imaging. Splenic nodules were present in 14 patients (30%) and varied in signal intensity. These nodules were isointense on Ti-weighted and hypointense on T2weighted images. Splenic infarcts were seen in 15 patients (33%), and four of these patients (9%) also had subcapsular fluid collections. Both nodules and infarcts were present in the spleen in four patients (9%). Pathologic correlation was performed with specimens from two patients who underwent partial splenectomy. Focal areas of abnormal signal intensity were noted in the liver in nine patients (20%). They were either stellate or segmental, and may represent fibrotic septa with ischemic changes associated with aggregates of Gaucher cells. No changes were noted in the kidneys or abdominal lymph nodes. Index

terms:

Liver, Spleen,

diseases, diseases,

Radiology

I

From

Gaucher 761.67 775.67

disease,

775.67, 761.67 Liver, MR, 761.1214 #{149} Spleen, MR. 775.1214

#{149}

1992; 184:561-566

the

Department

of Diagnostic

Radiol-

AL.);

and Department

of Pathology,

Children’s Hospital National Medical Center, Washington, DC (K.P.). Received December 6, 1991; revision requested January 6, 1992; revision received March 24; accepted April 6. Address reprint requests to S.C.H. C RSNA, 1992

MD

MR

Imaging

8 7 a)

0 0 0)

E z 1

0 2000

2500

3000 Repetition

Figure

1.

Gaucher

G

Distribution

of TRs

used

in transaxial

3500

Time,

4000

Tr (msec)

T2-weighted

imaging

of 46 patients

with

disease.

disease is a multisystem hereditary disorder caused by the accumulation of a glycolipid called glucocerebroside within the

and the Gaucher

bone marrow cells, leading

disordered graphic

coagulation findings in the

lysosomes

patients with Gaucher disease have been described (4,5), as have the computed tomographic and sonographic findings in the liver and spleen (6,7). There has been only one case report, to our knowledge, of the magnetic resonance (MR) imaging appearance

AUCHER

of macrophages

in systemic

organs. The illness is due to deficient activity of the enzyme glucocerebrosidase (1). Patients with type 1 Gaucher disease

ogy (S.C.H., B.M.D., AL.), Liver Diseases Section, National Institute of Diabetes and Digestive and Kidney Diseases (A.M.D.B.), and Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke (ROB., N.W.B.), Bldg 10, Rm 1C-660, Clinical Center, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892; Department of Radiology, Georgetown University Medical Center, Washington, DC

(S.C.H.,

Alexander Ling, MD #{149}Kathleen Patterson, MD #{149}Norman W. Barton, MD, PhD #{149}

#{149}

exhibit

progressive

anemia,

thrombocytopenia, hepatosplenomegaly, skeletal damage, and occasionally pulmonary and renal difficulties. The nervous system is not involved in this phenotype. Patients with type 2 Gaucher disease (acute neuronopathic form) exhibit hepatosplenomegaly

within

the

first

6

months of life. In addition, they have severe progressive neurologic deterioration and die between 1 and 2 years of age. Patients with type 3 Gaucher disease may have many if not all of the signs of type 1 patients and also have neurologic involvement, including horizontal gaze paresis, myoclonic seizures, and progressive dementia. The liver and spleen in patients with Gaucher disease are enlarged

of the

with

liver

this

study,

and

by and

(2,3). Radioskeleton in

spleen

disorder

we

is infiltrated to anemia

in patients

(8). In the present

describe

the

MR

imaging

findings in the liver and spleen in 46 patients with Gaucher disease and report the frequency of focal abnormalities

within

these

MATERIALS Forty-six

male), (mean

Abbreviation:

AND

patients

ranging age, 23

organs.

(22 male

in age from years)

TR

METhODS

and

=

repetition

and

24 fe-

2 to 51 years with a diagnosis

time.

561

Table MR

1 Imaging

Findings

Liver

in

Spleen

and

in Pediatric

Patients

with

1 or 3 Gaudier

Type

Disease

Organ

Volume Patient!

(cm3)

Weight

Age (y)/Sex 1/2/Mt 2/3/M 3/6/Ft 4/6/M 5/6/M 6/7/F 7/7/M 8/7/M 9/8/F 10/8/F 11/8/F 12/9/F 13/10/F 14/10/F 15/10/F 16/11/M 17/11/M 18/13/F 19/15/M

(kg)

Liver

Spleen

16.0 12.5 16.9 19.5

1,188 1,333

2,017 618 1,893

1,156 1,045 883

1,986 1,253 680

1,179

2,108

24.0

1,265

1,899

19.9 23.9 28.0

1,713 1,594 1,182 935 1,583

3,333 2,079

788

22.4

16.5 18.5

23.0

21/16/M 22/17/F

55.2

2,616

4,023 4,546 3,267

23/18/M

49.5

2,499

6,378

20/15/F

1,499

1,497 1,911 1,981 1,515 1,925 1,952

1,172 5,562 3,539 592 1,050

3,005

* Numbers in parentheses are sizes of nodules. t These two patients had type 3 disease; the remaining

Table 2 MR Imaging

Findings

in

Yes No No No No No Yes No No No No No No No No No Yes

316

Liver and

Spleen

pediatric

in Adult

patients

Patients

Size (cm) Nodules*

Other Several

None None None None None None None None None None None None None None None None None None None None None 2 (< 2) 2 (3), 40 (