CASE 17359 Published on 23.07.2021

Familial Multiple Cavernous Malformations Syndrome: a Demanding Neuroimaging Diagnosis

Section

Neuroradiology

Case Type

Clinical Cases

Authors

Pedro Neves Paiva de Castro1, Carolina Gianella Cobo Chantong2, Héber Samuel Colares Costa1, Caio Tasso Oliveira1, Raquel da Cruz Bezerra1, Dequitier Carvalho Machado1

1 Radiology department, Hospital das Américas. Américas Serviços Médicos.

Address: Avenida Jorge Curi, 550 - Barra da Tijuca, Rio de Janeiro, RJ. Postal code: 22775-001

 

2 Radiology department, Rio de Janeiro State University. Pedro Ernesto University Hospital.

Address: Boulevard 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro, RJ. Postal code: 20551-030

Patient

68 years, male

Categories
Area of Interest Neuroradiology brain ; Imaging Technique MR
Clinical History

A 68-year-old male presented an episode of holocranial headache and syncope, and neurological evaluation showed language and level of consciousness preserved, without focal deficits.  The patient reported previous intracranial bleedings episodes and that his father was affected by the same condition.  The medical team requested imaging evaluation.

Imaging Findings

Magnetic resonance imaging (MRI) demonstrated countless SWI-hypointense lesions (Figs. 1a, 1b, 1c, 1d), with predominantly isointense signal to the medullary veins on SWI phase map (Fig. 2), indicating haemorrhagic material (hematic lesions against calcifications), diffusely distributed in the cerebral hemispheres and posterior fossa. SWI minimum intensity projection (MinIP) volumetric reconstruction from a 3T MRI demonstrates multiple cerebral bleeding areas (fig 3).

T1 showed some hyperintense signal due to methaemoglobin and subacute haemorrhage (Fig. 4).  There were some lesions with a low-signal halo on T2 and an internal area of ​​hypersignal in this sequence, the largest located in the left lentiform nucleus (Figs. 5a, 5b), configuring a “popcorn” aspect (haemoglobin degradation products). The largest lesions had mild gadolinium enhancement foci; however, they mostly did not enhance (figs. 6a, 6b, 6c).

Discussion

Cavernous malformations (CM) are haemorrhagic vascular malformations established by dilated venous channels contained by a single layer of endothelial cells, without a cover of elastic tissue or smooth muscle [1]. Cases are sporadic or hereditary: the formers being way more frequent. Familial multiple cavernous malformations syndrome (FMCMS) represents about 20% of the cases [2], with numerous lesions in the elderly [3]. MRI enables accurate diagnosis by combining findings in different sequences, providing adequate clinical-surgical management, prognostic definition, and follow-up assessment [4].

The clinical picture is variable, characterized by seizures, focal deficits, and headaches. In FMCMS, repeated intracranial haemorrhages can cause dementia or parkinsonism in the elderly since new haemorrhages appear over the years [3].

SWI is critical in assessing intracranial bleedings and calcifications, exhibiting conspicuously the lesions’ hyposignal [5], whose differential diagnoses include chronic hypertension, amyloid angiopathy, haemorrhagic metastases, coagulopathy, neurocysticercosis, and septicemia [6].

Due to the absence of calcifications on the SWI phase map, the possibility of neurocysticercosis was ruled out. The distribution of lesions, including the nucleus-capsular regions and the posterior fossa, greatly disfavoured the diagnosis of amyloid angiopathy. Furthermore, the absence of significant contrast enhancement ruled out the possibility of secondary implants. Finally, the popcorn appearance of some lesions corroborated the diagnosis of multiple CV. The patient reported intracranial bleeding episodes since youth: currently, SWI reflects the extent and the depth of cerebral haemorrhagic lesions.

In the view of the clinical-radiological context, it became essential to define the lesions’ aetiology (familial vs nonfamilial). When MRI demonstrates countless lesions, the diagnosis of FMCMS should be considered. The diagnostic criteria include (at least one): 1- the occurrence of multiple CM (typically five or more); 2- the incidence of CM in at least two members of a family; 3- the existence of a mutation in one of the three genes related to FMCMS [3].

The genes implicated include the KRIT1, CCM2 or PDCD10, presenting with autosomal dominant inheritance [2]. Due to the genetic inheritance pattern, each child of a patient affected by the syndrome has a 50% chance of acquiring the disease. Since the clinical picture and imaging pattern were compatible, the diagnosis of FMCMS was corroborated [3].

Because there is no lesion with a mass effect that can be surgically intervened, the patient underwent neurological surveillance, with an improvement of symptoms and discharge within 24 hours. The patient was submitted to evolutionary control by MRI.

Differential Diagnosis List
Familial Multiple Cavernous Malformations Syndrome
Chronic hypertension
Septicemia
Coagulopathy
Haemorrhagic metastases
Amyloid angiopathy
Final Diagnosis
Familial Multiple Cavernous Malformations Syndrome
Case information
URL: https://www.eurorad.org/case/17359
DOI: 10.35100/eurorad/case.17359
ISSN: 1563-4086
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