Intracranial Erdheim-Chester disease

Case contributed by Dr Rajalakshmi Ramesh

Presentation

Four week history of confusion, nausea, disorientation, personality change and right sided weakness.

Patient Data

Age: 62
Gender: Male
Modality: CT

Extensive vasogenic oedema throughout the left occipitoparietal region, extending across the splenium of the corpus callosum into the periventricular white matter of the right parietal lobe. No enhancing focus is identifiable in the post-contrast images.

Modality: MRI

There is an ill-defined lesion within the left parietal and occipital lobe. This extends across the splenium of the corpus callosum in the deep periventricular right parietal lobe. Anteriorly, it also involves the left cerebral peduncle of the midbrain and the thalamus. It is hypointense on T1 and hyperintense on T2/FLAIR. Enhancement is demonstrated in the periventricular region, adjacent to the occipital horn with further enhancement extending anteriorly adjacent to the left temporal horn and the midbrain. Enhancement is also demonstrated involving the corpus callosum and in the right periventricular white matter. There is associated extensive vasogenic oedema with minimal mid-line shift.

The patient underwent a burr hole biopsy of the left occipitoparietal lesion.

Histology:

MACROSCOPIC DESCRIPTION:

Multiple fragments of soft pale fawn tissue up to 4mm in maximum dimension taken from periventricular area lesion. Reactive changes demonstrated. No tumour. 

MICROSCOPIC DESCRIPTION:

Paraffin sections show fragments of cerebral white matter. These show predominantly perivascular collections of mononuclear cells with reniform vesicular nuclei. The cytoplasm of these cells is distended by granular eosinophilic material which is strongly PAS +ve and also shows uptake of methenamine-silver. These cells show strong CD68 immunoreactivity and are admixed with small mature CD3+ T lymphocytes, CD20+/CD79a+ B lymphocytes and microglial cells. No S-100 reactivity is seen in the mononuclear cells. The perivascular collections of these cells are sharply demarcated from surrounding white matter. No atypical oligodendrocytes or "ground glass" cells are seen and there is no evidence of emperipolesis of either erythrocytes or lymphocytes. No evidence of tumour is seen and no organisms or viral inclusion bodies are identified. Paraffin sections had been sent for Tropheryma Whippelii PCR and Polyomavirus DNA PCR, the results of which were both negative.

DIAGNOSIS: "Periventricular lesion":  Non-Langerhans cell histiocytic proliferation consistent with Erdheim-Chester Disease. No evidence of tumour seen.

The patient was commenced on alpha interferon therapy which was initially well tolerated. However, within weeks of therapy, he developed increasing right-sided upper and lower limb weakness and spasticity, necessitating urgent re-imaging querying progression of disease. However, CT imaging demonstrated an acute subdural haemorrhage, thought to be likely (on retrospective history taking) secondary to an un-witnessed fall with head strike.

Modality: CT

Hyperdense left parietooccipitofrontal subdural collection demonstrated measuring up to 20 mm in maximal depth, with resultant mass effect: sulcal effacement and partial effacement of the left lateral ventricle. White matter low attenuation in the left occipital, parietal and superior temporal lobes corresponds to the area of T2/FLAIR hyperintensity. Hypodensity also demonstrated within the posterior limb of the left internal capsule extending to the cerebral peduncle and pons. The extent of white matter hypodensity is stable in comparison to previous imaging.

The patient underwent a left parietal craniotomy and evacuation of the acute subdural bleed. Two months following evacuation of the subdural hemorrhage, the patient was commenced on chemotherapy with cladribine. The patient’s disease has remained stable over the past seven years, with his most recent imaging below.

Modality: MRI

Original imaging had demonstrated a large enhancing mass lesion in in the left hemisphere more than the right, crossing the midline, with enhancing mass lesions extending along the corticospinal track into the midbrain. Over time, this area has become quiescent, the enhancement having largely resolved, leaving an extensive area of encephalomalacia, and with volume loss along the signal abnormality in the left corticospinal tract. On the current examination, there remains extensive cerebral atrophy, ventriculomegaly and dilated sulci. The very extensive left hemispheric encephalomalacia (involving the left frontal parietal and occipital lobes) with resulting wallerian degeneration related atrophy of the midbrain and pons are again demonstrated. No new findings are seen in the cerebellar hemispheres. No abnormal contrast enhancement. No evidence of interval activity. Stable disease appearance.

Case Discussion

Rare case of intraparenchymal Erdheim-Chester disease.

 

Case courtesy of Associate Professor Pramit Phal

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Case Information

rID: 34080
Case created: 4th Feb 2015
Last edited: 15th Feb 2016
Inclusion in quiz mode: Included

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