A Rare Case of Erdheim-Chester Disease and Langerhans Cell Histiocytosis Overlap Syndrome

Abstract

A 48-year-old woman with a past medical history of seizures and end-stage renal disease secondary to obstructive uropathy from retroperitoneal fibrosis presented to the emergency department with seizures and altered mental status. A Glasgow Coma Scale of 4 prompted intubation, and she was subsequently admitted to the intensive care unit. Magnetic resonance imaging of the brain performed to elucidate the aetiology of her seizure showed a dural-based mass within the left temporoparietal lobe as well as mass lesions within the orbits. Further imaging showed extensive retroperitoneal fibrosis extending to the mediastinum with involvement of aorta and posterior pleural space. Imaging of the long bones showed bilateral sclerosis and cortical thickening of the diaphyses. Imaging of the maxillofacial structures showed osseous destructive lesions involving the mandible. These clinical and radiological features were consistent with a diagnosis of Erdheim-Chester disease; however, the patient's skin biopsy was consistent with Langerhans cell histiocytosis.

Erdheim-Chester disease: a rare cause of bilateral renal artery stenosis, mimicking large vessel vasculitis

“…First identified by Jakob Erdheim, an Austrian pathologist, and William Chester, an American cardiologist, in 1930, they referred to it as ‘lipoid granulomatosis’. Dr Ronald Jaffe reported a third case in 1972, naming the condition Erdheim-Chester disease (ECD) 4. The current prevalence of ECD is unknown.…”

“…Our patient has evidence of LCH on histology, accompanied by imaging findings pathognomonic of ECD. Coexistence of both conditions is rare but some cases have been reported 4. It has been suggested that overlap cases typically present with LCH and later progress to ECD 5.…”

Serial assessments of anterior pituitary hormones in a case of mixed histiocytosis representing Langerhans cell histiocytosis overlapping with Erdheim–Chester disease

“…The concomitant occurrence of two distinct histiocytoses in the same patient is exceptional, but the association of LCH with ECD seems to be the most frequent ( 2 ). Both LCH and ECD share common clinical manifestations, such as CDI, and nearly 20% of patients with ECD also display LCH lesions ( 2 , 3 ). The present patient was first diagnosed with ECD based on the clinical, radiological, and histopathological context.…”