Natural history of cerebral dot-like cavernomas
Introduction
Cerebral cavernous malformations (CCM), also known as cavernomas, are vascular malformations affecting the central nervous system and have a prevalence of 0.3–0.6% and an annual incidence between one and 5.6 new patients per 1,000,000.1, 2, 3 The existence of multiple lesions has been shown in up to 27% of cases.4
Although the imaging appearance of cavernomas may vary, magnetic resonance imaging (MRI) has been proven to be both a highly specific and sensitive tool in the diagnosis of CCM. In summary, the imaging appearances correspond mostly to the pathophysiological hallmark of CCM, which is recurrent thrombosis and haemorrhage.5
Among other manifestations, such as mulberry-like lesions, small T2*-hypointense dots ≤1 mm corresponding to small cavernomas are a typical form of CCM. These small cavernomas are defined as type IV lesions by Zabramski et al.6 and occur in the context of multiple cavernomas (Table 1).6 They correspond to susceptibility artefacts in T2*-weighted gradient-echo (T2*-GRE) sequences caused by haemosiderin depositions in small cavernomas that are not or barely visible in spin-echo (SE) sequences.6
Whereas there are numerous publications dealing with cavernomas,7, 8, 9, 10, 11, 12, 13, 14, 15 little is known about the nature of these dot-like or so-called “black spot” cavernomas and their clinical impact. Thus, the aim of the present study was to analyse the natural history of these cavernomas.
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Materials and methods
Data from the medical files of the Department of Paediatric Neurosurgery of Hôpital Necker Enfants Malades, Paris were assessed between 1 January 1993 and 31 December 2009 to provide results concerning epidemiological aspects, imaging features and clinical considerations. Charts and MRI studies of these patients were analysed retrospectively. Among 70 patients with clear radiological and/or pathological criteria of a cerebral cavernoma, 18 patients (26%) had additional black spot lesions in the
Results
Eighteen children presented 187 black spot cavernomas additionally to other cavernomas during a mean observation period of 5.5 years per child (range: 18 days to 13.1 years). The mean number of black spot lesions was 10.4 ranging from 1 to 24.
Bigger dominant cavernomas initially lead to symptoms (seizures, signs of raised intracranial pressure, or focal neurological deficits) in 16 children, but none of the 187 black spot cavernomas could be related to any given symptoms during the observation
Discussion
Genetic analyses and MRI examinations have fundamentally changed our understanding of the nature of intracranial cavernomas. The discovery of de novo lesions, the link to genetic mutations, and a considerable haemorrhage rate underline the clinical need to better understand the natural history of cavernomas.
A limitation of this work is the diagnostic uncertainty concerning T2*-black spots. Establishing a definite diagnosis of black spot lesions in T2*W- images always poses a dilemma, especially
References (25)
- et al.
Natural history of cavernomas of the central nervous system
Neurochirurgie
(2007) - et al.
Central nervous system cavernomas in children
Neurochirurgie
(2007) - et al.
There are no estrogen and progesterone receptors in cerebral cavernomas: a preliminary immunohistochemical study
Surg Neurol
(2009) - et al.
Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families
Lancet
(1998) - et al.
Deep and brainstem cavernomas: a consecutive 8-year series
J Neurosurg
(2003) - et al.
Prospective, population-based detection of intracranial vascular malformations in adults: the Scottish Intracranial Vascular Malformation Study (SIVMS)
Stroke
(2003) - et al.
Dynamic nature of cavernous malformations: a prospective magnetic resonance imaging study with volumetric analysis
J Neurosurg
(2000) - et al.
Angiographically occult vascular malformations: a correlative study of features on magnetic resonance imaging and histological examination
Neurosurgery
(1994) - et al.
The natural history of familial cavernous malformations: results of an ongoing study
J Neurosurg
(1994) - et al.
Natural history and imaging prevalence of cavernous malformations in children and young adults
J Neurosurg Pediatr
(2012)
Cavernous malformations of the central nervous system in the paediatric age group
Pediatr Neurosurg
Surgical management of brain cavernomas in children
Pediatr Neurosurg
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Pediatric Cerebral Cavernous Malformations
2021, Pediatric NeurologyCitation Excerpt :However, new or progressive symptoms may dictate more frequent imaging follow-up, particularly if intervention is being contemplated. Less frequent follow-up is advised for incidental and tiny dotlike CCMs given their low reported annual hemorrhage rate of 0.3% (over five years of follow-up)7 and 0.7% per lesion-year,76 respectively. Currently, there is no evidence to justify routine spinal imaging in patients with asymptomatic spinal CCMs given that no intervention is recommended in the absence of myelopathic symptoms.8,27
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