Erdheim–Chester disease: with neurological manifestation and multisystem involvement: case report and radiological review

Abstract

Background: Erdheim–Chester disease (ECD) is a rarely encountered idiopathic systemic form of non-Langerhans cell histiocytosis. The clinical manifestations of ECD are highly heterogeneous, ranging from unifocal forms to life-threatening multisystem involvement. Patients with CNS involvement often do not show clinical remission. Case presentation: We present a case of a 60-year-old male patient with worsening complaints of loss of balance, involuntary jerky movements, emotional lability and scanning speech developing over a period of 5 years. Magnetic resonance imaging of the brain at present institute revealed signal abnormalities in the midbrain, pons, cerebellar peduncles and cerebellar white matter with mineral deposition and volume loss in the bilateral basal ganglia and midbrain. Positron emission tomography–computed tomography of chest and abdomen revealed 18-fluorodeoxyglucose avid soft tissues lesion in the retroperitoneum involving bilateral perinephric spaces with intra-renal sinus extension, in pre- and paraaortic regions with enlargement of both adrenal glands. The radiographs of the long bones revealed multiple areas of sclerosis. The suspected diagnosis of ECD was confirmed on histopathology. ECD is a rare disease and has a predilection towards middle-aged males and is usually diagnosed late after the onset of initial symptoms. Conclusions: Our case was an atypical presentation of an extremely rare disease, presenting with ataxia and choreoathetoid movements linked to ferromagnetic deposition on brain scans. Multiple other imaging feature characteristics of the disease like the hairy kidney sign, coated aorta sign, skeletal, extra-skeletal and central nervous system manifestations were noted in this single patient.