Case report

Familial cavernous angiomatosis: case report of a family with multiple intracranial lesions

Radisav Mitić ; Clinical Center of Niš, Serbia
Nebojša Stojanović ; Clinical Center of Niš, Serbia
Zoran Radovanović ; Clinical Center of Niš, Serbia
Lukas Rasulić ; Clinical Center of Serbia, Serbia

Abstract

Cavernous angiomas of the brain belong to a group of occult vascular malformations of the central nervous system, i.e. to changes not evident on conventional angiographic examinations. Intraoperatively or at autopsy, they represent raspberry-like clusters of veins. Magnetic resonance (MR) imaging of the brain is the diagnostic method of choice, where cavernomas typically appear as zones of mixed-signal intensity due to the presence of hemosiderin in the surrounding brain parenchyma. Familial form of cavernous angiomatosis is an autosomal dominant disorder which occurs as a result of the mutations in one of the three different genes, and is most often present in the Hyspanic-American population. Familial form of the disease is characterized by the presence of two or more lesions in the brain tissue, in two or more members of the same family. In 2008, three patients in close blood relation were hospitalized within a short period of time at the Neurosurgery Clinic Niš for multiple cavernous angiomas of the brain, as confirmed by MR imaging and a histopathologic finding in one surgically treated family member. Three other family members were subsequently examined and familial cavernous angiomatosis was confirmed in two additional members who were asymptomatic. MR imaging was performed using T1- and T2-weighted SE sequences and T2-weighted GRE sequence. The number of lesions seen in T2 SE (60) and T2 GRE (406) sequences was analyzed, and a discrepancy in the number of found cavernomas was displayed. The number of cavernomas by brain regions, the number of cavernomas in asymptomatic and symptomatic patients as well as their distribution, were also analyzed.
The obtained data show superiority of the T2 GRE sequence over T2 SE sequence in terms of sensitivity. Type IV cavernoma is detected only on T2 GRE images, according to Zabramski. Type IV cavernoma is one of the features of familial cavernous angiomatosis.

Keywords

familial cavernous angiomatosis; cavernoma; cavernous angioma; gradient recalled ECHO

Hrčak ID:

175426

URI

https://hrcak.srce.hr/175426

Publication date:

15.12.2016.

Article data in other languages: croatian

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