Familial Occurrence of Multiple Vascular Malformations of the Brain

Takamiya, Yoshiaki; Takayama, Hideichi; Kobayashi, Kazuo; Mine, T; Suzuki, Keiji

doi:10.2176/nmc.24.271

Cited by 16 publications

(3 citation statements)

References 21 publications

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“…Some predominantly Hispanic families have been described with CNS involvement alone excluding the retina [Bicknell et al, 1978;Hayman et al, 1982;Rigmamonti et al, 19881, whereas other families manifest more diffuse involvement including retina and skin [Gass, 1971;Goldberg et al, 1979;Weskamp and Cotlier, 19401. Mixed types of inherited CNS vascular malformations (arteriovenous, capillary and venous malformations) including cavernous angiomas have also been described [Takamiya et al, 1984;Zaremba et al, 19791. Thus, familial cavernous angiomatosis may not be a single disorder with incomplete penetrance and variable expression but may rather represent a heterogeneous group of disorders.…”

Section: Clinical Reportmentioning

confidence: 99%

Terminal transverse limb defects associated with familial cavernous angiomatosis

Filling-Katz¹,

Levin²,

Patronas³

et al. 1992

Am. J. Med. Genet.

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Terminal transverse limb defects rarely are reported as familial. Multiple pathogenetic mechanisms, including vascular disruption, have been proposed to account for these defects. We report on a family followed over the past 6 years known to have familial cavernous angiomatosis in which 2 relatives have similar terminal transverse defects at the mid-forearm. Multiple relatives have had episodic bleeding from intracranial cavernous angiomas, a distinct finding in this disorder. Other findings in this family include retinal cavernous angiomas (2 patients), a high incidence of skin angiomas (12 patients), cavernous angiomas of the soft tissue (2 patients), and a hepatic angioma (one patient). One of the 2 individuals with the limb defect was evaluated extensively. Magnetic resonance imaging of the forearm with the terminal transverse defect using gadolinium-DTPA enhancement showed abrupt termination of all structures distal to the normal radial and ulnar heads. We propose that familial cavernous angiomatosis may be a new cause of vascular disruption resulting in terminal transverse limb defects.

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Section: Clinical Reportmentioning

confidence: 99%

Terminal transverse limb defects associated with familial cavernous angiomatosis

Filling-Katz¹,

Levin²,

Patronas³

et al. 1992

Am. J. Med. Genet.

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“…These came from seven reports from three centers along the US-Mexican border, where MRI is easily available. The fact that FCA occurs in many non-Hispanics in Europe (7, 15,22,24,25,28,30), in Japan (26), and in non-Hispanics from the United States (14,21,32) indicates that FCA is probably distributed worldwide.…”

Section: Discussionmentioning

confidence: 99%

Cavernous angiomatosis of the central nervous system: usefulness of screening the family

Dellemijn

Vanneste

2009

Acta Neurologica Scandinavica

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A 23‐year‐old woman presented with cerebellar hemorrhage from a cavernous angioma (CA). A history of spinal hemorrhage and a supratentorial calcified lesion on CT and MRI suggested cavernous angiomatosis of the CNS. Familial investigation in 20 relatives revealed 4 additional patients with symptomatic CA and one person with asymptomatic CA. In the symptomatic patients, CA had not been recognized as the cause of their neurologic symptoms prior to our investigation. The number of CA lesions in asymptomatic relatives was low. This study shows that, when a patient with cavernous angiomatosis of the CNS is encountered, systematic clinical and MRI investigations in other family members with a history or symptoms of neurologic disorder should be carried out.

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“…Before the introduction of brain CT scan and brain MRI, the association between developmental venous anomaly (DVA) and cavernous malformation (CM) was not well established. The initial report was at 1984 after introduction of CT scan then followed by frequent reports supporting and confirm this association especially when the brain MRI included as a common investigating tool for intracranial vascular lesions (4)(5)(6). Recent reports showed that up to 30% of DVA are associated with CM, and up to 100% of CM are intimately associated with DVA (7-10).…”

Section: Introductionmentioning

confidence: 99%

Microscopic trans-cerebellar approach for infratentorial cavernous malformation near the lateral recess associated with developmental venous anomaly

Hoz¹,

Aktham²,

Bdaiwi³

et al. 2019

roneuro

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Background: Reports showed the intimate association of the developmental venous anomaly with infra-tentorial cavernous malformation. This association has several clinical and surgical implications, sometimes this association will be a surgical challenge and affect the selection of the safest approach to the lesion. Surgery for infratentorial cavernoma is indicated for accessible symptomatic lesion only. Case scenario: we present a case of deep cerebello-pontine CM adjacent to the lateral recess, presented with acute clinical deterioration to the emergency department of the Neurosurgery Teaching Hospital in Baghdad, Iraq, with the only possible approach was Trans-cerebellar approach because of the medial location of the associated DVA. Conclusion: The association of developmental venous anomaly with infratentorial cavernous malformation has a pivotal role in selection the most appropriate and safe surgical approach which should be based upon the individualized patient anatomy and the location of the target lesion.

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Familial Occurrence of Multiple Vascular Malformations of the Brain

Cited by 16 publications

References 21 publications

Terminal transverse limb defects associated with familial cavernous angiomatosis

Terminal transverse limb defects associated with familial cavernous angiomatosis

Cavernous angiomatosis of the central nervous system: usefulness of screening the family

Microscopic trans-cerebellar approach for infratentorial cavernous malformation near the lateral recess associated with developmental venous anomaly

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