Familial cerebral cavernous haemangioma diagnosed in an infant with a rapidly growing cerebral lesion

Ng, Bernard; Mulyadi, Ellie; Pereira, John; Ghedia, Sondhya; Pinner, Jason; Mowat, David; Vonau, Marianne

doi:10.1111/j.1440-1673.2006.01638.x

Cited by 16 publications

(9 citation statements)

References 51 publications

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“…Since fulminant courses of the disease have only rarely been reported in infants affected with CCM (Ng et al. 2006; Sürüçü et al. 2006; Gianfrancesco et al.…”

Section: Introductionmentioning

confidence: 99%

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors

Spiegler

Najm

Liu

et al. 2014

Molec Gen & Gen Med

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Cerebral cavernous malformations (CCM) are prevalent vascular malformations occurring in familial autosomal dominantly inherited or isolated forms. Once CCM are diagnosed by magnetic resonance imaging, the indication for genetic testing requires either a positive family history of cavernous lesions or clinical symptoms such as chronic headaches, epilepsy, neurological deficits, and hemorrhagic stroke or the occurrence of multiple lesions in an isolated case. Following these inclusion criteria, the mutation detection rates in a consecutive series of 105 probands were 87% for familial and 57% for isolated cases. Thirty-one novel mutations were identified with a slight shift towards proportionally more CCM3 mutations carriers than previously published (CCM1: 60%, CCM2: 18%, CCM3: 22%). In-frame deletions and exonic missense variants requiring functional analyses to establish their pathogenicity were rare: An in-frame deletion within the C-terminal FERM domain of CCM1 resulted in decreased protein expression and impaired binding to the transmembrane protein heart of glass (HEG1). Notably, 20% of index cases carrying a CCM mutation were below age 10 and 33% below age 18 when referred for genetic testing. Since fulminant disease courses during the first years of life were observed in CCM1 and CCM3 mutation carriers, predictive testing of minor siblings became an issue.

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“…Since fulminant courses of the disease have only rarely been reported in infants affected with CCM (Ng et al. 2006; Sürüçü et al. 2006; Gianfrancesco et al.…”

Section: Introductionmentioning

confidence: 99%

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors

Spiegler

Najm

Liu

et al. 2014

Molec Gen & Gen Med

View full text Add to dashboard Cite

show abstract

“…However, these with acute hydrocephalus and brain stem compression needing surgery; which was the case in this child's initial presentation. A few reported cases have described patients who presented with obstructive hydrocephalus secondary to haemorrhage from cavernomas requiring an external ventricular drainage followed by VP shunt and excision of cavernomas 7 8. Several studies have concluded that, in patients with symptomatic lesions abutting the pial surface, those who have had repeated haemorrhages causing progressive neurological deterioration, who have experienced acute haemorrhages outside the lesion's capsule, or who have a significant mass effect after haemorrhage within the lesion itself, should undergo surgical treatment with the goal of cure 9 10.…”

Section: Discussionmentioning

confidence: 99%

Unilateral facial palsy in an infant: an unusual presentation of familial multiple cerebral cavernous malformation

et al. 2012

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SummaryCerebral cavernous malformation (CCM) in infants tends to have genetic predisposition. These cavernomas have a progressive course of events and associated neurological symptoms with increase in age. They most commonly present with seizure and syndrome of increased intracranial pressure comprising of headache, vomiting and focal neurological signs. We describe a case of a 7-month-old infant who presented with an acute onset of right facial paralysis with a background of familial CCM. The CT and MRI scan revealed fresh haemorrhage in the right cerebellar and pontine cavernomas with surrounding oedema and no evidence of obstructive hydrocephalus. These two cavernomas re-bled in a week duration causing episodes of incessant crying and irritability. After discussing the pros and cons of treatment, owing to stable clinical status, the patient is currently been managed conservatively. BACKGROUND

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“…Según Ng y cols. 6 , hasta el año 2006 solo se habían reportado 39 casos de angiomas cavernosos en menores de un año.…”

Section: Discussionunclassified

Angioma cavernoso cerebral gigante en paciente menor de un año: descripción de un caso

2009

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ResumenLos angiomas cavernosos son poco frecuentes en niños, y son menos frecuentes aún los angiomas cavernosos gigantes.Describimos el caso clínico de un niño de 11 meses que consultó por un cuadro de crisis epilépticas de 5 meses de evolución. Los estudios de imagen (IRM) evidenciaron un angioma cavernoso gigante parietal derecho.Se realizó una resección total de la lesión con control de las crisis.Se reporta el caso dado lo excepcional de la lesión descrita en un paciente menor de un año.PALABRAS CLAVE: Angioma cavernoso. Epilepsia secundaria. Cirugía de la epilepsia. Neurocirugía pediátrica.Giant cerebral cavernous malformation in a child less than 1 year old: case report Summary Cerebral cavernous malformations are rarely described in children. Giant cavernous malformations are exceptional in this group of patients.The authors reports a case of an eleven months boy, who begins at the sixth month of life with epilepsy. Medical therapy was advised and imagenological studies were carried out.An IRM was performed, and shows a giant cavernous malformation in the right parietal lobe.Surgery was carried out, with complete resection of the lesion. In the postoperative period and at more than a year of follow up, he was free of crisis.We report the case because of the rarity of a giant cavernous angioma in a patient less than a year old.

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Familial cerebral cavernous haemangioma diagnosed in an infant with a rapidly growing cerebral lesion

Cited by 16 publications

References 51 publications

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors

Unilateral facial palsy in an infant: an unusual presentation of familial multiple cerebral cavernous malformation

Angioma cavernoso cerebral gigante en paciente menor de un año: descripción de un caso

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