Asymptomatic Familial Multiple Cerebral Cavernous Malformation in a 73-Year-Old Woman

Klenam Dzefi-Tettey,Philip Narteh Gorleku,Emmanuel Kobina Mesi Edzie,Henry Kusodzi,Abdul Raman Asemah,Fumiyuki Yamasaki

doi:10.1155/2021/9974776

Abstract

Cerebral cavernous malformations (CCMs) are dilated blood vessels which can develop sporadically or in familial form and are the commonest malformations of blood vessels in the spinal cord and brain. The familial form is an autosomal dominant gene mutation disorder. This condition can be diagnosed with magnetic resonance imaging (MRI) and computed tomography (CT) scan, but the modality of choice is MRI because of its high sensitivity. We report a case of a 73-year-old woman with an asymptomatic multiple familial cerebral cavernous malformation (FCCM) which was previously misdiagnosed as multiple cerebral metastases on CT scan. A brain MRI performed correctly diagnosed her condition as FCCM based on the typical MRI appearances. In order not to misdiagnose brain lesions like CCM on CT scan, for cerebral metastases in resource-poor settings, radiologists must recommend advanced imaging modalities like MRI for further evaluation, thereby avoiding unnecessary invasive surgical biopsies.

Highlights

Cerebral cavernous malformations (CCMs) are the most common malformations of blood vessels and can be seen in various parts of the brain and the spinal cord
The advancement in the central nervous system (CNS) imaging has led to the incidental diagnosis of CCMs with the use of modalities such as computed tomography (CT) scan and magnetic resonance imaging (MRI), with the latter being the more effective imaging modality for detecting CCMs, especially the T2
The sporadic form is often associated with a single isolated lesion whilst the familial form is associated with multiple lesions and mutations in three genes, namely, K-Rev Interaction Trapped 1 (KRIT1)/CCM1, CCM2, and Programmed Cell Death 10 (PCD10) known as CCM3

Summary

Introduction

Cerebral cavernous malformations (CCMs) are the most common malformations of blood vessels and can be seen in various parts of the brain and the spinal cord. Many patients with CCMs are asymptomatic; its real prevalence is unknown [4]. CCMs are classified into two forms, namely, sporadic and familial forms. CCM is often asymptomatic, people with this condition may present with clinical complaints such as seizures, headaches, deficits in neurological function, and cerebral hemorrhage [10]. CCMs ranges between 9% and 88% in patients presenting with no history of hemorrhage. In familial CCMs, 6.5% and 13% per patient-year have been reported as symptomatic and asymptomatic hemorrhage rates, respectively, with 1.1% per lesion per year, causing FCCM to occur in multiples [1, 11]. The multiple nature of this condition can be misdiagnosed as brain metastasis if the appropriate imaging modality is not used and the radiologist interpreting the images is not experienced, this case report

Case Report

Discussion

Conclusion

Findings

Conflicts of Interest