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. 2016 Mar 21;100(1):51.
doi: 10.5334/jbr-btr.938.

Familial Multiple Cavernous Malformation Syndrome: MR Features in This Uncommon but Silent Threat

Marc Mespreuve  1   2 , Filip Vanhoenacker  1   2 , Marc Lemmerling  2   3
Affiliations

Familial Multiple Cavernous Malformation Syndrome: MR Features in This Uncommon but Silent Threat

Marc Mespreuve et al. J Belg Soc Radiol. .

Abstract

Cerebral cavernous malformations (CCM) are vascular malformations in the brain and spinal cord. The familial form of cerebral cavernous malformation (FCCM) is uncommon. This autosomal dominant pathology mostly presents with seizures and focal neurological symptoms. Many persons affected by FCCM remain asymptomatic. However, acute hemorrhages may appear over time. MRI demonstrates multiple focal regions of susceptibility induced signal loss, well seen on gradient-echo sequences (GRE) or even better on susceptibility-weighted imaging (SWI). The presence of a single CCM - especially in young persons - without history of FCCM does not exclude this diagnosis. Some clinicians also advise an MRI of the spinal cord at the time of diagnosis to serve as a baseline and a control MRI of the brain every one to two years. MRI is certainly indicated in individuals with obvious new neurologic symptoms. Symptomatic siblings should also undergo an MRI of the brain to determine presence, size, and location of the lesions. Even in asymptomatic siblings, a screening MRI may be considered, as there may be an increased risk of hemorrhage, spontaneous or due to the use of certain medications; the knowledge of the presence and the type of these lesions are important. Surgical removal of a CCM may be justified to prevent a life-threatening hemorrhage. Control MRI may reveal the postoperative outcome.

Keywords: Cerebral cavernous malformation; Familial cerebral cavernous malformation syndrome; MRI.

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Figures

Figure 1
Figure 1
FCCM. Axial SWI. Bilateral diffuse presence of multiple focal regions of susceptibility-induced signal loss of variable size. Blooming is most obvious around the two larger lesions.
Figure 2
Figure 2
FCCM Type 1 lesion. Axial SE T1-WI (A), TSE T2-WI (B), and FLAIR (C). Hyperintense core on SE T1-WI (A) and SE T2-WI (B) suggests recent hemorrhage. Peripheral oedema is best seen on FLAIR image (C).
Figure 3
Figure 3
FCCM Type 2 lesion located in the brainstem. Axial SE T1-WI (A) and TSE T2-WI (B), sagittal SE T1-WI before (C) and after gadolinium contrast (D). Twenty-year-old patient with known FCCM (daughter of a Krit-I positive patient with FCCM), who presented with only two CCM, of whom one large lesion was located in the brainstem. The lesion shows a reticulated mixed signal core on SE T1-WI and reticulated mixed signal core with surrounding hypointense rim on SE T2-WI.
Figure 4
Figure 4
FCCM Type 3 lesion (arrows). Axial SE T1-WI (A) and TSE T2-WI (B). Hypointense lesion on SE T1-WI (A) and hypointense lesion with surrounding hypointense rim on TSE T2-WI (B).
Figure 5
Figure 5
FCCM Type 4 lesion. Axial SE T1-WI (A), TSE T2-WI (B) and SWI (C). Multiple punctuate hypointense lesions (arrows) on SWI (C), not seen on SE T1-WI (A), nor on TSE T2-WI (B).
Figure 6
Figure 6
These axial SWI respectively at the level of the brainstem (A), basal ganglia (B), and semioval center (C), performed on the occasion of a familial screening in a 29-year-old daughter of a patient (figure 1, Krit-I positive) with FCCM shows already multiple (only the largest lesion at the different levels marked with an arrow) infratentorial and supratentorial cavernomas with typical signal loss.
Figure 7
Figure 7
FCCM location in the brain in two patients ((A) and (B–D)). Axial SWI. Presence of multiple (A) supratentorial and (B–C) infra- and (D) supratentorial lesions.
Figure 8
Figure 8
Evolution of the number of lesions in FCCM. Axial TSE T2-WI (A and C in 2009; B and D in 2013). Appearance of at least four new lesions over time (arrows).
Figure 9
Figure 9
Capillary telangiectasia in the brainstem (arrows) Axial SE T1-WI (A), TSE T2-WI (B), GRE-T2*(C) and SE T1-WI after gadolinium contrast (D). The lesion is not visualized on T1-WI (A). On T2-WI, there is a slightly increased signal intensity (B), whereas the lesion is of low signal on GRE-T2*(C). After gadolinium contrast (D), there is a faint enhancement in a brush-like pattern.
Figure 10
Figure 10
Arteriovenous malformation. Coronal SE T1-WI. Typical arterial (A) and venous component.
Figure 11
Figure 11
Cerebral amyloid angiopathy. Axial SE T1-WI (A), TSE T2-WI (B) and GRE-T2*(C). Numerous small foci of uniform size and susceptibility-induced signal loss with a predilection for the peripheral subcortical white matter, best seen on GRE-T2* (or SWI).
Figure 12
Figure 12
Hypertensive central hemorrhage in patient with severe hypertension. CT (acute fase) (A) and follow-up MRI with SE T1-WI (B), TSE T2-WI (c) and SWI (D). Acute cerebral hemorrhage (A). Parenchymal defect (B) and focus of low signal with susceptibility-induced signal loss (C, D) best seen on SWI.
Figure 13
Figure 13
Diffuse axional injury. CT (A) and GRE-T2*(B, C). Multiple small foci of high density (A) corresponding with (arrows) small foci of low signal intensity (B, C) at the borders between the cortical grey and white matter.
Figure 14
Figure 14
Hemorrhagic metastases. GRE-T2*(A), SE T1-WI (B), and SE T1-WI (C, D) after contrast. Small focus of low signal (A) in the pons (arrow) with faint contrast enhancement (C) (arrow). Presence of multiple, supratentorial, nodular hemorrhagic (B), and enhancing lesions (D).
Figure 15
Figure 15
Resection of a cavernoma: pre- and postoperative MRI. Axial TSE T2-WI. A large cavernoma (A) is present in the vermis of the cerebellum. After resection (B), there is only a minimal loss of brain parenchyma and a small marginal region with susceptibility artifacts.
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