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Gaucher’s disease in a patient presenting with hip and abdominal pain
Rev Assoc Med B ras 2017; 63(12):1025-1027 1025
IMAGING IN MEDICINE
Gaucher’s disease in a patient presenting with hip and
abdominal pain
Mustafa Resorlu1*, Nilufer Aylanc1, Ozan Karatag1, Canan Akgun Toprak1
1Department of Radiology, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey
Summary
Study conducted at the Department of
Radiology, Canakkale Onsekiz Mart
University, Canakkale, Turkey
Article received: 3/27/2017
Accepted for publication: 4/3/2017
*Correspondence:
Canakkale Onsekiz Mart University
Terzioglu Yerleskesi, Barbaros Mh
Canakkale – Turkey
Postal code: 17100
Gaucher’s disease is characterized by glucocerebroside accumulation in the
cells of the reticuloendothelial system. There are three subtypes. The most
common is type 1, known as the non-neuropathic form. Pancytopenia, hepa-
tosplenomegaly and bone lesions occur as a result of glucocerebroside accu-
mulation in the liver, lung, spleen and bone marrow in these patients. Findings
associated with liver, spleen or bone involvement may be seen at radiological
analysis. Improvement in extraskeletal system findings is seen with enzyme
replacement therapy. Support therapy is added in patients developing infection,
anemia or pain. We describe a case of hepatosplenomegaly, splenic infarction,
splenic nodules and femur fracture determined at radiological imaging in a
patient under monitoring due to Gaucher’s disease.
Keywords: Gaucher’s disease, tomography, sphingolipidoses.
Introduction
Gaucher’s disease is an autosomal recessive lipid storage
disorder. The beta-glucocerebrosidase enzyme is coded
in chromosome 1q21, and the disease results frommuta-
tion in this gene. In this lipid storage disease, glucocer-
ebroside is stored in the cells of the reticuloendothelial
systems as a result of beta-glucocerebrosidase deficiency.1
There are three subtypes of Gaucher’s disease, the princi-
pal determining characteristic of which is the presence
or absence of neurological involvement. Type 1 is the
chronic non-neuropathic form, seen in the adult age group.
Type 2 is the acute neuropathic form, which is character-
ized by progressive neurological involvement in addition
to hepatosplenomegaly.2 Type 3, the subacute neuro-
pathic form, is seen in children aged between 2 and 6, and
involves mild neurological findings and hepatospleno-
megaly. Beta-glucocerebrosidase enzyme deficiency is the
common feature of all three subtypes.1,2 Glucocerebroside
particularly accumulates in the liver, lung, spleen and
bone marrow. The clinical manifestations of this accu-
mulation are pancytopenia, hepatosplenomegaly, pulmo-
nary involvement, bone lesions and renal injury.3
Case report
A 56-year-old woman presented to our hospital with he-
maturia during the previous week and persistent pain in
the right hip region during the previous 6 months. She
stated that the hip pain began after a minor trauma and
persisted despite use of analgesics. Her medical history
revealed that she had been diagnosed with Gaucher’s
disease at the age of 38 and had two siblings with the
same condition. She described having anemia since her
youth, and reported that bleeding occurred with mild
traumas, causing occasional hematuria. Radiography and
magnetic resonance imaging (MRI) of the right hip joint
revealed edema and fracture in the femoral neck, and
decreased convexity, irregularity and osteonecrosis in the
femoral head (Figures 1 and 2). Inhomogeneity in bone
marrow and focal hypointense areas were also observed
in the pelvic bones on T1 weighted series. Abdominal
computerized tomography (CT) findings were hepato-
splenomegaly, splenic infarction and hypodense nodules
in the splenic parenchyma (Figure 3). At laboratory ex-
amination, hemoglobin was 9.6 mg/dL and platelet count,
16,000. The platelet count failed to increase sufficiently
despite transfusion, fracture surgery was postponed at
the patient’s request, and she was referred to the internal
diseases clinic.
Discussion
Gaucher’s disease was first described by Gaucher in 1882.
This lipid storage disease results from mutation in the