Subacute diencephalic angioencephalopathy: biopsy diagnosis and radiological features of a rare entity

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Abstract

Subacute diencephalic angioencephalopathy (SDAE) is a rare and fatal disease of unknown etiology that involves the thalami bilaterally. To date, there have been four cases reported, in which the diagnosis was established only after post mortem examination of the brain. We report two male patients, ages 69 and 41 years, who presented with progressive dementia and somnolence. Radiological evaluation revealed enhancing lesions involving both thalami. The differential diagnosis included a number of neoplastic, inflammatory and vascular processes. In both cases, pathological evaluation of biopsy specimens suggested the diagnosis of SDAE. Despite supportive care, the disease progressed rapidly and both patients died within weeks after initial presentation. The diagnosis was confirmed at autopsy in both cases. SDAE is a rare cause of bithalamic disease that can be mistaken for a neoplasm as well as a number of conditions that necessitate different treatment choices. The histopathological findings can establish the diagnosis when combined with radiological and clinical information. This report emphasizes the utility of stereotactic biopsy in early diagnosis of SDAE.

Introduction

Bithalamic pathological processes are often characterized by significant impairment of awareness and intellect, leading to profound dementia [1]. The differential diagnosis of dementia with associated bilateral thalamic lesions includes infarctions [2], [3], vascular malformations [4], [5], tumors [6], [7], infections [8], fatal familial insomnia [9], [10] and conditions concurrently affecting the cerebral cortex, such as Creutzfeldt–Jakob disease [11]. In addition, there are reports of bilateral thalamic disease resulting in dementia that cannot be classified under any of the above categories [12]. The pathological features of this ‘primary’ thalamic dementia include neuronal loss and gliosis without evidence of parenchymal necrosis and a normal cerebral vasculature [13].

DeGirolami et al. described a 60 year old male with exclusively bilateral thalamic involvement, fatal outcome and pathological characteristics consisting of vascular thickening, parenchymal necrosis and gliosis. They suggested the term ‘subacute diencephalic angioencephalopathy’ (SDAE) for this hitherto undescribed entity [1]. We were able to identify three subsequent reports that are consistent with their original description [14], [15], [16]. The diagnosis of SDAE was established post-mortem in all three of these cases. The radiological features of SDAE are unclear, since only one of the previous studies included a brief description of the computerized tomographic findings [15].

We report two patients with SDAE who presented with dementia and died within months after admission to the hospital. In both cases, the diagnosis was suggested by the pathological findings in stereotactic biopsy specimens and was confirmed at autopsy. The pathological features as well as MRI findings of these unusual cases are presented.

Section snippets

Case 1

A 69 year old, right-handed male was admitted to the emergency room after a motor vehicle accident. He had sustained sternal and lumbar fractures, but there was no direct injury to the head. He was hospitalized for 12 days after which he was discharged home in a stable condition. A few days after discharge he began complaining of somnolence, followed by urinary incontinence and confusion. There was significant weight loss and change in his personality, but he did not suffer from weakness or

Discussion

This study describes the radiological and pathological features of two patients with SDAE, a rare disorder of unknown etiology. The features in both cases were progressive mental deterioration, occurrence in adult males, bilateral parenchymal and vascular changes within the diencephalon. The disease has proven fatal in all cases (Table 1) [1], [14], [15], [16], [17]. Radiologically, lesions in both of our patients were bilateral, irregular, low-density areas on CT scan and variable contrast

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