Erdheim Chester disease with isolated involvement of CNS

Case contributed by Dr Kasturibai Dharman

Presentation

One month of symptoms including increased thirst, feeling cold, and increasing drowsiness.

Patient Data

Age: 60 years
Gender: Female

Axial non-contrast CT shows a hypodense mass in the suprasellar cistern with bilateral symmetrical hypodensities in midbrain, basal ganglia, and thalamus

Axial T2, T1, FLAIR MR shows T1 iso -hypointense, T2 hypointense, FLAIR hyperintense mass in the suprasellar cistern and in the region of the hypothalamus with bilateral symmetrical hyperintensities in the basal ganglia, thalamus, midbrain. DW/ADC images show no restricted diffusion.No features to suggest hemorrhage on gradient sequence.MR Intracranial angiography shows intracranial peri arterial abnormal signal intensities seen in the region of Circle Of Willis.CEMR MPR images show thick and nodular enhancement of the hypothalamic-pituitary axis along with pachymeningeal thickening and enhancement in the suprasellar and perimesencephalic cisterns with obstructive hydrocephalus of the lateral ventricles.

Case Discussion

The patient was drowsy, dysarthric and confused. She had panhypopituitarism including low cortisol and cranial diabetes insipidus. A Contrast-enhanced CT study of the chest, abdomen, and pelvis was unremarkable. Negative Bone scan.Bilateral external ventricular drains were placed to treat the hydrocephalus with a concurrent brain and dural biopsy.

Erdheim-Chester disease or Non-Langerhan's cell histiocytosis confirmed by foci of small foamy macrophage infiltrates in the parenchyma and dura on pathology in correlation with the clinical context.

Tuberculosis was ruled out by multiple repeated negative cultures. Neurosarcoidosis was eliminated due to normal Angiotensin Converting Enzyme and negative CT chest, abdomen and pelvis study.There were no oral ulcers and the brain biopsy was negative for NeuroBehcet's which is an idiopathic chronic inflammatory vasculitis.Central Nervous System lymphoma and Gliomatosis cerebri were also ruled out on cranial biopsy.

Isolated involvement of the neuroparenchyma is rare in Erdheim-Chester disease.The key MR diagnostic features in the brain are involvement of the hypothalamic-pituitary axis hypointense on T2 with nodular thickening and enhancement post contrast, pachymeningeal thickening, and enhancement. Intra axial involvement with abnormal signal intensities is very rarely noticed in the midbrain and pons.

 

 

 

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Case information

rID: 58077
Case created: 30th Jan 2018
Last edited: 11th Feb 2018
Inclusion in quiz mode: Excluded
Institution: Glangwili General Hospital, Carmarthen,West Wales

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