Tc-99m MDP Bone Scintigraphy in A Patient with Camurati

OLGU SUNUMU
Tc-99m MDP Bone Scintigraphy in
A Patient with
Camurati-Engelmann Disease
Pelin ÖZCAN KARA, MD,a
Gonca KARA GEDİK, MD,a
Oktay SARI, MDa
a
Department of Nuclear Medicine,
Selçuk University,
Meram Medical Faculty, Konya
Geliş Tarihi/Received: 10.07.2009
Kabul Tarihi/Accepted: 05.10.2009
Yazışma Adresi/Correspondence:
Pelin ÖZCAN KARA, MD
Selcuk University,
Meram Medical Faculty,
Department of Nuclear Medicine, Konya,
TÜRKİYE/TURKEY
[email protected]
ABSTRACT Camurati-Engelmann Disease (CED) or progressive diaphyseal dysplasia (PDD) is a
rare autosomal dominant type of bone dysplasia belonging to the group of craniotubular hyperostoses. It is characterized by progressive new bone formation along both the periosteal and endoosteal
surfaces of the long tubuler bones. The patient underwent bone scintigraphy with Tc-99m Methylene diphosphonate (MDP) for evaluating disease activity and uptake localizations. In this case
report, we presented the interesting bone scan findings of a patient with CED.
Key Words: Camurati-Engelmann Syndrome; developmental; bone diseases,
Technetium Tc 99m Medronate
ÖZET Camurati-Engelmann Hastalığı veya progresif diafizyel displazi kranyotübüler hiperostoz
grubuna bağlı nadir bir otozomal dominant tip kemik displazisidir. Uzun tübüler kemiklerin
periostal ve endoostal yüzeyleri boyunca progresif yeni kemik oluşumu ile karekterizedir. Tutulum
lokalizasyonları ve hastalık aktivitesini değerlendirmek amacıyla hastaya Tc-99m Metilen Difosfanat
kemik sintigrafisi yapılmıştır. Bu olgu sunumunda Camurati-Engelmann hastalığı olan bir hastanın
ilginç kemik sintigrafi görüntüleri sunulmuştur.
Anahtar Kelimeler: Kamurati-EngelmanSendromu; gelişimsel; kemik hastalıkları,
Teknesyum Tc 99m Medronat
Turk J Nucl Med 2009;18(3):92-4
ngelmann’s Disease, or progressive diaphyseal dysplasia, is an uncommon condition characterized radiographically by symmetrical diaphyseal sclerosis involving the tubular bones. The onset of the disease
is usually during childhood. Most patients present with limb pain, musculer weakness, a waddling gate, and easy fatigability. Systemic manifestations-such as anaemia, leukopenia, and hepatosplenomegalyoccur
occationally. Abnormal values for several markers of bone formation and resorption have been reported in a few patients.
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92
In differential diagnosis, Paget’s disease, infantile cortical hyperostosis,
syphillitic periostitis, hypervitaminosis A, hypertrophic osteoarthropathy,
and venous stasis with periostitis can all be ruled out by clinical or laboratory
tests and/or radiographic distribution. Chronic sclerosing osteomyelitis can
be excluded by the bilaterality of involvement.1 Diaphyseal bone infarcts of
Turk J Nucl Med 2009;18(3)
Tc-99m MDP BONE SCINTIGRAPHY IN A PATIENT WITH CAMURATI-ENGELMANN DISEASE
sickle cell disease are excluded clinically. Van Buchem’s disease,2 a disease involving epiphyses as well
as diaphyses of tubuler bones with characteristic
mandible involvement should be ruled out.
Pelin ÖZCAN KARA et al
Bone scintigraphy shows areas of increased osteoblastic activity in the skull and diaphyseal parts of
the long bones. Bone scan is usefull in demonstrating disease activity diffusivenly to all bones.
CASE REPORT
A 52 year old female with CED, first seen at another institution, complaining intermittent severe bilateral leg pain, fatigue and muscle weakness was
refered for Tc-99m MDP bone scintigraphy to detect the skeletal uptake localizations. She first became symptomatic when she developed mild,
intermittent leg pain. Enlargement of the mandible and legs was evident at physical examination.
Medical history in the past was unremarkable. Radiographs of the extremities demonstrated cortical
thickening in the long bones. Bone imaging was
performed three hours after intravenous administration of Tc-99m MDP (740 MBq). On whole body
imaging, performed with a gamma camera (Siemens, ECAM) equipped with low energy high resolution collimator, the anterior and posterior
planar views demonstrated bilaterally, symmetrical tracer uptake of the femora, lower legs, humeri and forearms, clavicles, pelvic bones, ribs,
mandible, frontal, parietal and occipital bones (Figure 1a). Diffusely increased activity was present
in the distal halves of the femora, the proximal halves of the tibiae, along the humeri and proximal forearms. Lesser patchy radionuclide accumulation
as present in distal radii, pelvic bones, claviculas,
ribs, mandible, and skull. Figure 1b shows mandible involvement. Vertebrae, hands, feet and distal
lower extremity were normal. The patient is being treated symptomatically.
DISCUSSION
The syndrome was first described by Cockayne3 in
1920 and further defined by Camurati4 in 1922. In
1929, Engelmann5 reported a patient with diaphyseal sclerosis associated with abnormal gait, neurological disturbances, growth retardation and poor
Turk J Nucl Med 2009;18(3)
FIGURE 1a: Whole body bone scintigraphy of a patient showing the symmetrical distribution of the disease. Increased tracer uptake is visible in the
diaphyseal portion of the long bones of the femora, lower legs, humeri and
forearms, clavicles, pelvic bones, ribs, mandible and frontal, parietal and occipital bones. There is valgus deformity of the knees.
FIGURE 1b: Anterior and posterior spot view of head. Increased patchy tracer
uptake seen in mandible.
muscular development. The name “progressive diaphyseal dysplasia” emphasises the progressive nature of the hyperostosis and the ever present
involvement of the diaphyses,6 but currently, the
eponym Camurati-Engelmann disease is widely accepted. In 1949, Ribbing7 described very mild form
of diaphyseal sclerosis of the femora and tibiae
which was not always symmetric.
The cortical thickening of the diaphyses of the
long bones is charecteristic for the disorder. Hype93
Pelin ÖZCAN KARA et al
Tc-99m MDP BONE SCINTIGRAPHY IN A PATIENT WITH CAMURATI-ENGELMANN DISEASE
rostosis is bilateral, symmetrical and usually starts
at the diaphyses of the femora and tibiae, expanding to the fibulae, humeri, ulnae and radii. As the
disease progresses, metaphyses may become affected as well, but the epiphyses are spared.8 Involvement of the mandible is less common but can occur
in more severe instances as in our case.
In a review by Janssens K et al., clinical, radiological, and molecular data on 24 CED families
were collected.9 This review was based on the unpublished and detailed clinical, radiological, and
molecular findings in 14 CED families, comprising
41 patients, combined with data from 10 other previously reported CED families. For all 100 cases,
molecular evidence for CED was available, as a mutation was detected in TGFB1, the gene encoding
transforming growth factor (TGF) β1. Pain in the
extremities was the most common clinical symptom, present in 68% of the patients. A waddling gait (48%), fatigue (44%), and muscle weakness (39%)
were other important features. Radiological symptoms were not fully penetrant, with 94% of the patients showing the typical long bone involvement.
A large percentage of the patients also showed involvement of the skull (54%) and pelvis (63%).
Scintigraphy detected increased osteoblastic activity in the affected regions (limbs, pelvis, skull, spine) in 74% of the investigated patients (17/22). As
increased tracer uptake can be perceived even before sclerosis becomes radiologically visible, scintigraphy is a valuable technique for diagnosing
CED in an early stage of disease.
Bone sintigrams and radiographs display diffe-
1.
2.
3.
4.
94
Shier CK, Krasicky GA, Ellis BI, Kottamasu
SR. Ribbing's Disease: Radiographic Scintigraphic Correlation and Comparative Analysis
with Engelmann's Disease. J Nucl Med
1987;28:244-8.
Van Buchem ES, Hadders HN, Ubbens R. An
uncommon familial systemic disease of the
skeleton: hyperostosis corticalis generalisata
familiaris. Acta Radiol 1955;44:109-20.
Cockayne EA. Casefor diagnosis. Proc Roy
Soc Med (ChildSect1.9)20;13:132-6.
Camurati M. Di un raro caso di osteite sim-
rent aspects of skeletal function. Radiography is primarily an anatomic study reflecting structural change that has occurred or is occurring; it cannot
accurately indicate duration or intensity of disease
activity. By comparison, skeletal scintigraphy is primarily a physiological test that reflects alterations
in bone blood flow and/or mineral metabolism. In a
report by Kumar B. et al., the authors claimed that
bone scintigraphy, however, is not specific for any
disease process. Therefore, the combination of radiography with radionuclide bone imaging permits
a survey of disease distribution and activity that could not be accompushed by either study alone. Regions that are radiographically and scintigraphically
normal are, indeed, normal. Similarly, where both
imaging techniques show focal abnormalities, a disease process is likely. There are, however, two other
important combinations. First, a positive radiograph
and normal scintigram appear to indicate a quiescent or “mature” lesion. Second, a normal radiograph coupled with a positive scintigram probably
indicates an early lesion, or one with activity insufficient to affect a structural change that is radiographically apparent.10 In another report by Shier C
et al., their cases of Ribbing’s disease illustrated the
advantage of isotope bone scanning in assessing the
degree of activity and distribution of the disease.1
In this case report, a rare case of CamuratiEngelmann Disease with a rare mandible involvement was reported. Bone scintigraphy with
Tc-99m Methylene diphosphonate (MDP) was effective for evaluating disease activity and uptake
localizations.
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Turk J Nucl Med 2009;18(3)