Serial magnetic resonance imaging changes of pseudotumor lesions in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a case report

Abstract

Background Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is an adult-onset rare monogenic microvasculopathy. Its typical neuroimaging features are punctate white matter lesions or pseudotumor alterations. RVCL-S is often under-recognized and misdiagnosed because of its rarity and similar imaging manifestations to multiple sclerosis or brain malignant mass. Case presentation Here we report a case of a 36-year-old Chinese man who developed multiple tumefactive brain lesions spanning over two years leading to motor aphasia, cognitive decline, and limb weakness. He also presented with slight vision loss, and fundus fluorescein angiography indicated retinal vasculopathy. He underwent brain biopsies twice and showed no evidence of malignancy. Given the family history that his father died of a brain mass of unclear etiology, RVCL-S was suspected, and genetic analysis confirmed the diagnosis with a heterozygous insertion mutation in the three-prime repair exonuclease 1 gene. He was given courses of corticosteroids and cyclophosphamide but received little response. Conclusions The present case is one of the few published reports of RVCL-S with two-year detailed imaging data. Serial magnetic resonance images showed the progression pattern of the lesions. Our experience emphasizes that a better understanding of RVCL-S and considering it as a differential diagnosis in patients with tumefactive brain lesions may help avoid unnecessary invasive examinations and make an earlier diagnosis.

Monogenic Causes of Strokes

“…Thus, due to the rare occurrence of RVCL-S, MR imaging studies were limited to small case series and showed small/medium punctate T2 hyperintense white matter lesions, some associated with diffusion restriction or nodular enhancement, and annular (rim- enhancing) pseudotumor lesions, often seen in advanced disease and causing life-threatening mass effect due to angioedema. Yan et al presented a case report of a patient with RVCL-S who underwent follow-up magnetic resonance imaging at two-year follow-up, revealing a pattern of progression of brain lesions [ 23 ]. Sequential MR neuroimages showed small punctuate lesions with or without nodular enhancement and pseudotumor lesions enhancing the periphery.…”

Tumor-Like Brain Lesions Associated With Variants of Uncertain Significance Compared to Previous Studies: A Case Report

“…Mutation of this gene has been consistently linked to a wide range of acronyms for several similar pathologic phenotypes (Table 2 ) [ 3 ]. The cause of vascular retinopathy with cerebral leukodystrophy is mainly associated with a C-terminal frameshift mutation [ 5 , 6 ]. It is therefore a poorly known genetic disease.…”

“…Patients with RVCL exhibit a central constellation of neurological and visual symptoms [ 4 ]. Clinically, the disease presents in patients aged 35 to 40 years and is characterized by vascular retinopathy, Raynaud's phenomenon, migraine, and multiple internal organ dysfunction including renal disease, liver disease, gastrointestinal bleeding, anemia, and subclinical hypothyroidism [ 5 , 6 ].…”

“…In the most severe cases, patients present with vision loss, seizures, hemiparesis, apraxia, dysarthria, or memory loss. There can be progression to blindness, a neurovegetative state and death within 5 to 10 years after the onset of symptoms [ 6 ]. In this article, we present a clinical picture of cerebral leukodystrophy associated with a new variant of TREX1 never described before.…”

Determining the etiology of cerebral stroke: from the most prevalent to rare causes

“…копичення контрастної речовини у вигляді стрічки по краю, мікрокрововиливи і масивний набряк навколо вогнища, що зберігався протягом декількох місяців, справляли враження агресивного ураження паренхіми мозку [61]. Результати МРТ надають деяке уявлення про патогенетичні механізми РВЦЛ: точкові вогнища з обмеженням дифузії свідчать про мікросудинну ішемію, тоді як вузлові вогнища з кільцевим накопиченням контрасту -про порушення цілісності гематоенцефалічного бар'єра [54].…”