Pediatric cerebral cavernous malformations: Genetics, pathogenesis, and management

Ghali, Michael George Zaki; Srinivasan, Visish M.; Mohan, Arvind; Jones, Jeremy; Kan, Peter; Lam, Sandi

doi:10.4103/2152-7806.196921

Cited by 19 publications

(17 citation statements)

References 87 publications

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“…Tordjman et al described comorbid ASD and Williams-Beuren syndrome (WBS) caused by 7q11.23 deletion [8]. Our patient showed no WBS; CCM1 gene was located at 7q21 [1]. To date, at least three genes of CCM1-3 were identified in CCMs, none of which were putative ASD genes [1,9].…”

Section: Discussionmentioning

confidence: 69%

“…Our patient showed no WBS; CCM1 gene was located at 7q21 [1]. To date, at least three genes of CCM1-3 were identified in CCMs, none of which were putative ASD genes [1,9]. The structural MRI findings in young children with ASD are abnormally increased total brain volume, which was not applicable to our patient [10].…”

Section: Discussionmentioning

confidence: 69%

“…Unfortunately, nobody saw the instant of his drowning, leaving open the question of whether he had actually had a seizure, or not. Seizures are a second major presenting symptom of CCMs after hemorrhage in children [1]. Seizures are common in people with ASD [3].…”

Section: Discussionmentioning

confidence: 99%

“…Absence of known clinically affected family members is suggestive of sporadic form. Sporadic cases with multiple lesions might get familial mutations from asymptomatic parents and might show de novo mutation [1]. To confirm the familial type and mutation, genetic analysis was applied, as mandatory in this case.…”

Section: Discussionmentioning

confidence: 99%

“…Cerebral cavernous malformations (CCMs; OMIM#116860) are known to be associated with structural epileptic seizures and epilepsy [1]. Most patients with CCMs remain asymptomatic, with lesions often discovered incidentally during magnetic resonance imaging (MRI) [1]. Early diagnosis of CCMs is extremely difficult especially before the appearance of neurological symptoms.…”

Section: Introductionmentioning

confidence: 99%

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Unintentional Drowning Associated with Multiple Cerebral Cavernous Malformations

Matsukura¹,

Inomata²,

Tanaka³

2019

AJMCR

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Cerebral cavernous malformations (CCMs), which occur in a sporadic or familial form, can predispose a person to seizures, focal neurological impairment, and hemorrhage. Upon discovery floating in a swimming pool, a 3-year-old boy was unresponsive and not breathing, but he achieved uneventful recovery after adequate cardiopulmonary resuscitation. Diagnostic head magnetic resonance imaging confirmed multiple CCMs. Absence of affected family members was indicative of the sporadic form. Subsequently, he developed social communication deficits and restricted and repetitive behaviors, suggestive of autism spectrum disorders (ASD). Comorbidity of CCMs and ASD is rare. Seizure associated with multiple CCMs might precipitate unintentional drowning.

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Section: Discussionmentioning

confidence: 69%

Section: Discussionmentioning

confidence: 69%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Unintentional Drowning Associated with Multiple Cerebral Cavernous Malformations

Matsukura¹,

Inomata²,

Tanaka³

2019

AJMCR

View full text Add to dashboard Cite

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Pediatric Cavernous Malformations

Desai

Britz

2021

Pediatric Vascular Neurosurgery

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Imaging of supratentorial intraventricular masses in children: a pictorial review—part 2

Goncalves,

Mahecha-Carvajal,

Desa

et al. 2023

Neuroradiology

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Purpose This article is the second in a two-part series aimed at exploring the spectrum of supratentorial intraventricular masses in children. In particular, this part delves into masses originating from cells of the ventricular lining, those within the septum pellucidum, and brain parenchyma cells extending into the ventricles. The aim of this series is to offer a comprehensive understanding of these supratentorial intraventricular masses, encompassing their primary clinical findings and histological definitions. Methods We conducted a review and analysis of relevant epidemiological data, the current genetics/molecular classifications as per the fifth edition of the World Health Organization (WHO) Classification of Tumors of the Central Nervous System (WHO CNS5), and imaging findings. Each supratentorial intraventricular mass was individually evaluated, with a detailed discussion on its clinical and histological features. Results This article covers a range of supratentorial intraventricular masses observed in children. These include colloid cysts, subependymal giant cell astrocytomas, ependymomas, gangliogliomas, myxoid glioneuronal tumors, central neurocytomas, high-grade gliomas, pilocytic astrocytomas, cavernous malformations, and other embryonal tumors. Each mass type is characterized both clinically and histologically, offering an in-depth review of their individual imaging characteristics. Conclusion The WHO CNS5 introduces notable changes, emphasizing the vital importance of molecular diagnostics in classifying pediatric central nervous system tumors. These foundational shifts have significant potential to impact management strategies and, as a result, the outcomes of intraventricular masses in children.

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Pediatric cerebral cavernous malformations: Genetics, pathogenesis, and management

Cited by 19 publications

References 87 publications

Unintentional Drowning Associated with Multiple Cerebral Cavernous Malformations

Unintentional Drowning Associated with Multiple Cerebral Cavernous Malformations

Pediatric Cavernous Malformations

Imaging of supratentorial intraventricular masses in children: a pictorial review—part 2

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