# Jan 2023

- Link: https://isnr.in/jan-2023/
- Published: 2023-01-02T19:35:47+05:30
- Author: ISNR

## Dec 2022

**CASE HISTORY**:

39 years , male, presented with progressive gait disturbance and speech difficulty
since 11 months. Associated with headache, giddiness and vomiting since 3-4 months.

**CASE CONTRIBUTED BY**

Department of Diagnostic and Interventional Radiology, AIIMS Jodhpur

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| [](https://isnr.in/wp-content/uploads/2023/01/15janA.jpg) | [](https://isnr.in/wp-content/uploads/2023/01/15janB.jpg) | [](https://isnr.in/wp-content/uploads/2023/01/15janC.jpg) | [](https://isnr.in/wp-content/uploads/2023/01/15janD.jpg) | 
| [](https://isnr.in/wp-content/uploads/2023/01/15janE.jpg) | [](https://isnr.in/wp-content/uploads/2023/01/15janF.jpg) | [](https://isnr.in/wp-content/uploads/2023/01/15janGG.png) | [](https://isnr.in/wp-content/uploads/2023/01/15janH.jpg) |

| [](https://isnr.in/wp-content/uploads/2023/01/15janI.jpg) |  |  |  |

Image A & B – Axial T2 weighted images at the level midbrain and pons respectively
shows ill defined T2 hypointense lesion with associated edema causing diffuse expansion
of the brainstem.

Image C & D – The trace and ADC images of Diffusion weighted imaging shows patchy
areas of restricted diffusion.

Image E – T2 sagittal images shows diffusion involvement of the brainstem and the
hypothalamic region ( black arrow).

Image F-H :  The post contrast T1MPRAGE images shows ill defined nodular enhancing
lesions in random distribution in brainstem, hypothalamus and the superior vermis.

Image I : Multiple ill defined small thin walled variable shaped cysts seen distributed
throughout all lobes in both lungs along with interstitial septal thickening.

## Discussion

•Erdheim-Chester disease (ECD) is a rare non–Langerhans cell histiocytosis. Typically
affects middle-aged patients and is slightly more common in men (1).

•Multiple somatic mutations are implicated in ECD, most commonly BRAF V600E.

•ECD is a multisystem disorder commonly involving perinephric fat (68%), the periaortic
region (66%), lungs (43%), pericardium (42%), orbits (25%), and the neuroaxis (51%);
25% have diabetes insipidus (DI) (2).

•C/F :

•Diabetes insipidus- secondary to involvement of the hypothalamic-pituitary axis(
HPA)

•Ataxia – owing to involvement of posterior fossa structures, particularly the cerebellar
dentate nuclei (3).

•Exophthalmos, retroorbital pain, extraocular muscle palsies, and progressive vision
loss – Orbits are involved in 1/4^(th) of patients/

•Additional common symptoms include bone pain, weakness and fatigue, cough and progressive
respiratory failure, ureteral obstruction, renal impairment, cardiac dysfunction
and tamponade, and xanthelasmas and xanthomas.

## Discussion: Key Diagnostic Features:

•Intracranial disease may be intra-axial and/or extra-axial and is commonly multifocal.

•Extra-axial lesions may present as a plaque like thickening of dura.

•Intra-axial lesions are often FLAIR hyperintense with predilection for the pons,
brachium pontis and the hypothalamic pituitary axis.

•Avid postcontrast enhancement is typical. Both diffuse and nodular enhancement 
is possible. 

•CNS findings are generally nonspecific, but the additional findings of sclerotic
bone lesions and pericardial, pulmonary interstitial, and retroperitoneal infiltrative
soft tissue thickening should raise suspicion for this disease (3).

**References**

•1. Verdalles U, Goicoechea M, García de Vinuesa S et-al. Erdheim-Chester disease:
a rare cause of renal failure. Nephrol. Dial. Transplant. 2007;22 (6): 1776-7. 

•2. Myra C, Sloper L, Tighe PJ et-al. Treatment of Erdheim-Chester disease with 
cladribine: a rational approach. Br J Ophthalmol. 2004;88 (6): 844-7. 

•3. Johnson MD, Aulino JP, Jagasia M et-al. Erdheim-chester disease mimicking multiple
meningiomas syndrome. AJNR Am J Neuroradiol. 2004;25 (1): 134-7.