Coexistence of intracranial and spinal cavernous malformations: a study of prevalence and natural history

Cohen-Gadol, Aaron; Jacob, Jeffrey T.; Edwards, D; Krauss, William E.

doi:10.3171/jns.2006.104.3.376

Cited by 71 publications

(34 citation statements)

References 32 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In agreement with previously published pediatric series [13, 15, 23, 30], we observed that 83.3% of our 42 pediatric patients had supratentorial lesions, 11.9% infratentorial and 4.76% spinal CMs of the intra- and extradural compartments. We did not observe any cases of coexistent intracranial and spinal cavernomas, although this has been documented [35]. Among the intracranial sites, the frontal region is the most frequent location of cerebral CMs reported in pediatric series [10, 13, 20, 32, 33, 36], while basal ganglia CMs are less commonly reported in children than in adults [4, 13,37,38,39,40].…”

Section: Resultsmentioning

confidence: 72%

“…Furthermore, the functional prognosis in children treated for spinal cord CMs seems better than in adults, although the neurological picture at clinical presentation commonly appears more severe in pediatric patients [10]. Asymptomatic intracranial lesions in children with symptomatic spinal CMs have been reported by Cohen-Gadol et al [35], confirming a higher risk for clinical evolution in patients with multiple CMs along the neuraxis [75]. Multiple spinal cord CMs in children are estimated to account for 16.6% of the published cases [10].…”

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Cavernous Malformations of the Central Nervous System in the Pediatric Age Group

et al. 2009

View full text Add to dashboard Cite

Objective: The main clinico-diagnostic features, risk factors and associated diseases of cavernous malformations (CMs), also called cavernous angiomas or cavernomas, of the central nervous system (CNS) in children are described, and the most relevant differences compared to the affected adult population are pointed out, focusing on the management of pediatric patients harboring cranial and spinal CMs. Materials: This was a retrospective study of a series of 42 children symptomatic for CMs of the cranial and spinal compartments (35 supratentorial brain lesions, 5 infratentorial and 2 in the spinal region) operated on between 1975 and 2005, with a clinical follow-up ranging from 12 to 192 months. The results were compared with those found in the most recent literature dealing with pediatric CMs of the CNS. Results: Surgical treatment produced excellent or good results in 69% of our 42 children. Unchanged neurological deficits were observed in 23.8% of cases, while morbidity from surgical procedures was 7.14%. Mortality was absent in this series. These surgical results are comparable with those found in the literature, where morbidity and mortality rates from surgery are 8.8 and 1.13%, respectively, and are mostly associated with procedures for the excision of deep, critically located cavernomas. Conclusion: CMs represent the most common CNS vascular lesion in children, although their incidence is 4 times lower than that of the adult population. The natural history of pediatric CMs throughout the neuraxis seems to be more aggressive than in adult patients; these lesions have higher rates of growth and hemorrhage, larger dimensions and often atypical radiological pictures at diagnosis. Beside the familial form of the disease, which is more often associated with multiple lesions and an earlier age of clinical presentation, the major risk factor for CMs in children seems to be radiotherapy for CNS tumors. Furthermore, a greater number of CMs coexistent with mixed angiomatous lesions have been reported in children than in adults. Surgical results are related to the preoperative neurological status of the children; symptomatic patients who are operated on early, before they develop severe neurological deficits or long-standing seizures, may achieve the best clinical outcome. Radiosurgery does not seem to be advisable in children as an alternative treatment for deep CMs or those causing epilepsy.

show abstract

Section: Resultsmentioning

confidence: 72%

Section: Resultsmentioning

confidence: 99%

Cavernous Malformations of the Central Nervous System in the Pediatric Age Group

et al. 2009

View full text Add to dashboard Cite

show abstract

“…34,42 Acute neurological decline or recurrent episodes of acute decline with varying degrees of recovery are likely due to frank hemorrhage from the lesion. Our review of natural history studies revealed an overall 2.5% annual hemorrhage rate (range 0-4.5%), 3,10,25,36,38 similar to brainstem cavernomas. 5,8,15,20,27 Prior reviews of primarily case reports and small case series revealed retrospective annual hemorrhage rates of 1.4-1.6%.…”

Section: Natural History and Clinical Presentationmentioning

confidence: 99%

“…This phenomenon was carefully analyzed in 2 series. Cohen-Gadol et al 10 obtained cerebral MR images in 33 of 67 cases of spinal intramedullary CMs at their institution, finding 14 with associated cranial and spinal lesions. The mean age in this patient group was 40 years, 12 of the patients were Caucasian, and 8 of the patients had a family history of CMs.…”

Section: Natural History and Clinical Presentationmentioning

confidence: 99%

Intramedullary spinal cord cavernous malformations

Gross¹,

Du²,

Popp³

et al. 2010

FOC

116

106

View full text Add to dashboard Cite

Although originally the subject of rare case reports, intramedullary spinal cord cavernous malformations (CMs) have recently surfaced in an increasing number of case series and natural history reports in the literature. The authors reviewed 27 publications with 352 patients to consolidate modern epidemiological, natural history, and clinical and surgical data to facilitate decision making when managing these challenging vascular malformations. The mean age at presentation was 42 years without a sex predilection. Thirty-eight percent of the cases were cervical, 57% thoracic, 4% lumbar, and 1% unspecified location. Nine percent of the patients had a family history of CNS CMs. Twenty-seven percent of the patients had an associated cranial CM. On presentation 63% of the patients had motor deficits, 65% had sensory deficits, 27% had pain, and 11% had bowel or bladder dysfunction. Presentation was acute in 30%, recurrent in 16%, and progressive in 54% of cases. An overall annual hemorrhage rate was calculated as 2.5% for 92 patients followed up for a total of 2571 patient-years. Across 24 reviewed surgical series, a 91% complete resection rate was found. Transient morbidity was seen in 36% of cases. Sixty-one percent of patients improved, 27% were unchanged, and 12% were worse at the long-term follow-up. Using this information, the authors review surgical nuances in treating these lesions and propose a management algorithm.

show abstract

“…This fact needs further attention, and there are only limited data on the exact proportion of CCM patients with lesions of the spinal cord available in the literature. The probability that patients with CCM have a spinal cavernous malformation as well has been reported to be as high as 5%, and spinal cavernous malformations may have a higher rate of hemorrhage than CCMs [17,18,19]. …”

Section: Discussionmentioning

confidence: 99%

Novel <i>KRIT1</i> Mutation and No Molecular Evidence of Anticipation in a Family with Cerebral and Spinal Cavernous Malformations

Kuhn¹,

Brümmendorf

Brassat

et al. 2008

Eur Neurol

View full text Add to dashboard Cite

Background: Cerebral cavernous malformations (CCM) are vascular brain anomalies which can result in a variety of neurological symptoms. Familial CCM is inherited as an autosomal-dominant trait. There is one study in the literature which reports statistical evidence for anticipation in familial CCM. Methods: We reevaluated the clinical course of the disease and performed molecular analyses in a previously described three-generation CCM family with apparent anticipation. Results: Disease started at a younger age in each generation, strongly suggesting anticipation. The patient in generation I showed no clinical symptoms by the age of 68, whereas his son became wheelchair-bound at the age of 43 due to an intramedullary cavernous malformation at the thoracolumbar transition of the spinal cord. The patient in generation III had a pons hemorrhage at the age of 11 due to a large brainstem cavernoma. The hemorrhage caused facial palsy and hemiparesis, persisting as Millard-Gubler syndrome. Sequencing of KRIT1 identified a novel frameshift mutation in exon 15 (c.1561delC or p.Leu551X) which cosegregated with the phenotype. Flow-FISH analysis of granulocyte and lymphocyte telomere length showed that telomeres were longest in the youngest affected family member. Conclusions: We could not find any evidence for either of the two currently known molecular mechanisms for genetic anticipation (i.e., expansion of repetitive DNA elements or progressive telomere shortening) in this family. However, the family presented here raises the important question whether surveillance of CCM families with gradient-echo MRI should not only include the cerebrum, but the spinal cord as well.

show abstract

Coexistence of intracranial and spinal cavernous malformations: a study of prevalence and natural history

Cited by 71 publications

References 32 publications

Cavernous Malformations of the Central Nervous System in the Pediatric Age Group

Cavernous Malformations of the Central Nervous System in the Pediatric Age Group

Intramedullary spinal cord cavernous malformations

Novel <i>KRIT1</i> Mutation and No Molecular Evidence of Anticipation in a Family with Cerebral and Spinal Cavernous Malformations

Contact Info

Product

Resources

About