Co-occurrence of a cerebral cavernous malformation and an orbital cavernous hemangioma in a patient with seizures and visual symptoms: Rare crossroads for vascular malformations

Choudhri, Omar; Feroze, Abdullah H.; Lad, Eleonora M.; Kim, Jonathan W.; Plowey, Edward D.; Karamchandani, Jason; Chang, Steven D.

doi:10.4103/2152-7806.134810

Cited by 7 publications

(4 citation statements)

References 63 publications

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“…55,61 The bilaterality, the multiplicity, the occasional association with OVMs and LMs, the presence of hybrid orbital lesions, the documented association with local orbital, regional, or systemic tumors, and the documented demonstration of genetic defects in kindred CVM lesions like cerebral CVM conservatively point towards a possible genetic origin. 46,62,[70][71][72][73][74][75][76][77][78] Yet, this alleged genetic association has never been convincingly demonstrated, 79 and most of the above-mentioned evidence is circumstantial at best.…”

Section: Infantile Hemangiomamentioning

confidence: 99%

“…Therefore, a common genetic background cannot be solidly inferred either. 49,52,78 Furthermore, cerebral CVM, which is clinically and histologically distinct from orbital CVM, is the only extraorbital type where multiple genes have been implicated in their pathogenesis, 52,78 while hepatic CVM, which may indeed be more closely related to its orbital counterpart, 49 has no known genetic associations.…”

Section: Infantile Hemangiomamentioning

confidence: 99%

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Orbital Vascular Anomalies: A Nomenclatorial, Etiological, and Nosologic Conundrum

Tawfik

Dutton

2021

Ophthalmic Plastic &Amp; Reconstructive Surgery

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Purpose: Vascular anomalies are a heterogeneous group of disorders that frequently present in the periorbital region. They encompass 2 broad entities: vascular tumors, which possess a proliferative endothelium, and vascular malformations, which are basically localized defects of vascular morphogenesis. The primary goal of this review was to address inaccurate or controversial terminology in the oculoplastic literature concerning orbital and periorbital vascular anomalies and to categorize these lesions in an abridged and simplified hierarchical list that adheres as much as possible to the most recent (2018) iteration for the classification of vascular lesions proposed by the International Society for the Study of Vascular Anomalies (ISSVA). The secondary goal of this review was to review and update information regarding the genetic underpinnings of vascular anomalies and the downstream signaling pathways that are subsequently affected as a result of these genetic errors. Methods: A literature review was conducted in PubMed, MEDLINE, PubMed Central, National Center for Biotechnology Information Bookshelf, and Embase for several related keywords including “vascular anomalies, vascular malformations, vascular tumors, and cavernous venous malformation,” both with and without adding the keywords “eyelid,” “orbital,” and “periorbital.” In addition, a detailed search was conducted for controversial or obsolete keywords like “cavernous hemangioma,” “lymphangioma,” and “varices,” again in their systemic and orbital/periorbital context. Results: Crucial issues in the 2018 ISSVA classification regarding the proper categorization of orbital vascular anomalies, particularly venous lesions, were critically evaluated and revised, and a regional, simplified, and abridged modification of the ISSVA 2018 classification was proposed. Conclusions: Interdisciplinary and intradisciplinary dialogue concerning orbital vascular anomalies is seriously compromised due to the lack of a unanimous agreement on terminology and the absence of a unified classification concept system. The authors recommend that oculoplastic surgeons adopt ISSVA terminology whenever technically possible and scientifically sound. However, they also propose modifying the ISSVA 2018 classification specifically to adapt to the peculiarities of vascular anomalies in the periorbital region. At present, the simplified classification proposed here is a preliminary first step towards managing patients with orbital vascular anomalies with greater diagnostic and therapeutic precision, until such time in the future when the entire genetic makeup of orbital vascular anomalies is more completely elucidated. Optimistically, this could pave the way for a more robust classification and the ultimate therapeutic cure.

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Section: Infantile Hemangiomamentioning

confidence: 99%

Section: Infantile Hemangiomamentioning

confidence: 99%

Orbital Vascular Anomalies: A Nomenclatorial, Etiological, and Nosologic Conundrum

Tawfik

Dutton

2021

Ophthalmic Plastic &Amp; Reconstructive Surgery

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“…Complete surgical removal of a cerebral cavernous malformation (CCM) is mainly influenced by its size and location: lesions located in deep and/or eloquent areas might not be amenable to complete resection, leaving a lesion remnant in the surgical site [6][7][8]. CCM post-surgical remnants may be associated with various complications, including bleeding [9] and seizure [10].…”

Section: Introductionmentioning

confidence: 99%

Cerebral cavernous malformation remnants after surgery: a single-center series with long-term bleeding risk analysis

et al. 2020

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The aim of this work is to investigate the long-term bleeding risk of cerebral cavernous malformation (CCM) remnants. A review of clinical, radiological, operative, and post-operative data of a cerebral cavernous malformation (CCMs) prospective database was performed. Fisher’s exact test and Mann-Whitney U-test were used to assess differences between non-hemorrhagic and hemorrhagic CCM remnants for 14 variables. Recursive partitioning analysis was performed to assess the order of variables most associated with CCM remnant bleeding. Twenty-four patients out of 126 had a CCM post-surgical remnant. Of these, 7 had at least one post-operative hemorrhagic event. The mean follow-up was 80.7 months (range 12–144). CCM post-surgical remnant bleeding presented mostly with acute headache (50%) and focal neurological deficit (25%); in the remaining cases, the hemorrhage was asymptomatic. Retreatment was performed in two patients, with surgery and radiosurgery, respectively; no treatment was performed in the majority of cases. All patients ranked as non-II, according to Zabramski classification, did not show any post-surgical bleeding. The presence of a pre-operative perilesional hemosiderin ring was highly significant in predicting post-surgical bleeding (sensitivity = 0.94, specificity = 0.88) and incorrectly predicted bleeding in only two of the 24 patients. This study provides an evaluation of clinical and radiological factors influencing the bleeding risk of a CCM post-surgical remnant in a homogeneous population. Perilesional hemosiderin ring and Zabramski Type II appear to strongly condition the bleeding risk of a CCM post-surgical remnant.

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“…The prevalence of cavernous hemangioma is estimated to be 0.4%-0.9% in the general population. 1,2 Approximately one-fourth of cavernous hemangiomas are detected in pediatric patients. [3][4][5] Cavernous hemangiomas occur as a sporadic or familial autosomal dominant disorder that is linked to 3 genes: cerebral cavernous malformation 1 (CCM1; KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10).…”

mentioning

confidence: 99%

Pediatric internal auditory canal cavernous hemangioma with rapid progression of sensorineural hearing loss: illustrative case

Hyakusoku¹,

Tanaka

Tsuchiya

et al. 2023

Journal of Neurosurgery: Case Lessons

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BACKGROUND Cavernous hemangioma of the internal auditory canal is extremely rare and is characterized by symptoms such as vertigo, sensorineural hearing loss, and facial nerve dysfunction. OBSERVATIONS A health examination on an 11-year-old female in the fifth grade revealed hearing loss in the left ear. She also had dizziness that had persisted for approximately 1 year. Pure-tone audiometry revealed sensorineural hearing loss in her left ear. Rightward horizontal and rotatory nystagmus was detected. Facial paralysis was not present. Magnetic resonance imaging showed a lesion that was suspected to be hemangioma. The authors selected a left suboccipital retrosigmoid approach. The tumor showed a berry-tufted appearance throughout the cerebellopontine angle. The seventh cranial nerve penetrated the tumor and partly circulated outside the tumor with marked adhesion. The authors partially resected the tumor to avoid damaging the facial nerve. A histological examination identified cavernous hemangioma. LESSONS The fundamental treatment for cavernous hemangioma of the internal auditory canal is complete surgical removal; however, any surgical intervention may result in hearing loss and facial paralysis. The extent of surgery needs to be decided intraoperatively based on the balance between preoperative symptoms and postoperative complications.

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Co-occurrence of a cerebral cavernous malformation and an orbital cavernous hemangioma in a patient with seizures and visual symptoms: Rare crossroads for vascular malformations

Cited by 7 publications

References 63 publications

Orbital Vascular Anomalies: A Nomenclatorial, Etiological, and Nosologic Conundrum

Orbital Vascular Anomalies: A Nomenclatorial, Etiological, and Nosologic Conundrum

Cerebral cavernous malformation remnants after surgery: a single-center series with long-term bleeding risk analysis

Pediatric internal auditory canal cavernous hemangioma with rapid progression of sensorineural hearing loss: illustrative case

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