Erdheim-Chester disease: a rare syndrome with a characteristic bone scintigraphy pattern

Abstract

Erdheim-Chester disease is a rare noninherited, non-Langerhans' cell histiocytosis, with multiorgan involvement. The skeleton is frequently involved in as many as 70-80% of all cases. In nearly half of the cases, there is an involvement of other organs such as the cardiovascular system, lung, kidneys, brain, and orbits. Extra-skeletal involvement is correlated with increased morbidity and mortality. In recent years, the disease is being described with increasing frequency although fewer than 200 cases have been identified worldwide. Besides its rarity, the disease has a characteristic almost pathognomonic bone scan appearance, which in some cases facilitates diagnosis of the syndrome. Bone scans also contribute to the qualitative assessment of skeletal involvement.

Recurrent and rapidly occurring pericardial tamponade in Erdheim Chester disease

“…There is also a characteristically abnormal increased uptake of technetium-99 in the long bones of the lower limbs. 7 Cardiovascular involvement is one of the most common causes of death and morbidity in these patients. Periaortic fibrosis and pericardial involvement are the two most common cardiovascular pathologies.…”

Immunopathological Analysis of Erdheim-Chester Disease with Massive Ascites

“…The "hairy kidney" appearance of the kidneys caused by bilateral infiltration of the perirenal and posterior pararenal spaces was highly indicative of the disease (6), while bone scintigraphy showed the pathognomonic appearance of ECD skeletal involvement (2). Osteosclerotic lesions detected on X-rays and bone cyst-like lesions detected on MR imaging were also compatible with a diagnosis of ECD (7).…”

“…It remains unclear whether ECD is a malignant or reactive inflammatory disease. Since the first report in 1930, less than 200 cases of ECD had been reported as of the end of 2007 (2). Since then, however, more than 200 cases have been reported in less than four years (1).…”

Erdheim-Chester disease detected with 99MTC MDP bone SPECT/CT

“…In order of frequency of occurrence these comprehend retroperitoneal fibrosis, diabetes insipidus, exophalmia, xanthomas, neurologic signs (ataxia), dyspnea, kidney failure, hypopituitarism, liver failure. Of all cases 70-80% have skeletal involvement and more than 50% have visceral involvement (4).…”

“…Mild permanent juxtaarticular bone pain is the most frequent symptom and mainly affects the lower limbs. Other symp- A B osteosclerosis of the diaphysis and metaphysis of the long bones with epiphyseal sparing (4,5). Bone scintigraphy shows a corresponding symmetric increased tracer uptake in the diaphysis and metaphysis of primarily the long bones (6,7).…”