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CHLA Case Presentation. History. HPI: 10 year old male with Down syndrome and a 1 week history of headache, nausea, vomiting, dizziness and unsteady gait. PMH: Down syndrome, ASD PSH: PE tubes, orchiopexy Meds: None NKDA. Physical Exam. Awake and alert CN II-XII intact

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CHLA Case Presentation

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Chla case presentation

CHLA Case Presentation


History

History

HPI: 10 year old male with Down syndrome and a 1 week history of headache, nausea, vomiting, dizziness and unsteady gait.

PMH: Down syndrome, ASD

PSH: PE tubes, orchiopexy

Meds: None

NKDA


Physical exam

Physical Exam

Awake and alert

CN II-XII intact

Motor: 5/5 bilaterally

Sensation: Intact bilaterally

Reflexes: Symetric, no Babinski

CBLM: FTN and RAM intact, gait ataxic


Differential diagnosis

Differential Diagnosis

  • Cavernous malformation

  • Teratoma


Procedure

Procedure

Posterior fossa craniotomy with gross total resection of mass


Diagnosis

Diagnosis

Cavernous Malformation


Cavernous malformation

Cavernous Malformation

  • Also known as cavernous angiomas, cavernomas and hemangiomas

  • Gross appearance is red and lobulated, similar to “mulberries”

  • Size is usually 0.5 to 3 cm

  • Adjacent brain is often hemosiderin stained


Cavernous malformation1

Cavernous Malformation

  • No large supplying artery or draining vein

  • Low flow

  • No intervening brain

  • Adjacent brain not ischemic

  • Microscopically have blood containing sinusoidal chambers lined by simple epithelium

  • The vascular spaces are separated by fibrous or collagenous tissue rather than brain

  • Often have a gliotic margin


Cavernous malformation2

Cavernous Malformation

  • 9% of all types of brain vascular malformations

  • Prevalence is 0.4-0.8%

  • M:F ratio is1:1

  • Age at presentation 20-40

  • Present with headache, focal neurological deficit, seizures, hemorrhage


Cavernous malformation3

Cavernous Malformation

  • CM can repetitively hemorrhage resulting in

    • Gliosis

    • Tissue discoloration

    • Hemosiderin-laden macrophages

    • Microcalcification

    • Hyalinization

    • Cysts with blood breakdown products


Cavernous malformation4

Cavernous Malformation

  • Can be familial

    • Hispanic families

      • CCM1, 7q11-21

    • Non-Hispanic families

      • CCM2, 7p13-15

      • CCM3, 3q25.2-27


Risk of hemorrhage

Risk of hemorrhage

  • Cantu, C., L. Murillo-Bonilla, et al. (2005). "Predictive factors for intracerebral hemorrhage in patients with cavernous angiomas." Neurol Res27(3): 314-8.

  • 133 Hispanic patients with 5 year follow-up

  • ICH rate 1.71% per patient per year

    • Lobar 1.22%

    • Brainstem 2.33%

    • Cerebellum 2.39%

    • Deep hemispheric 2.82%

  • Decreased rate of hemorrhage if family history of epilepsy or lobar location of CM


Association with venous malformations

Association with Venous Malformations

  • Abdulrauf, S. I., M. Y. Kaynar, et al. (1999). "A comparison of the clinical profile of cavernous malformations with and without associated venous malformations." Neurosurgery44(1): 41-6; discussion 46-7.

  • 55 patients

  • 24% had CM’s associated with VM’s

    • F>M

    • Greater risk of symptomatic hemorrhage (62% vs. 38%)

    • More likely to have lesions in the posterior fossa (P=0.001)

    • Less likely to present with seizures

    • Less likely to have family history


Association with down syndrome

Association with Down Syndrome

  • There is no known association between Down syndrome and the development of CM

  • Singh et al. (1993) reported on a 30 year-old male with Down sydrome and a cervical intramedullary CM (“chance association”)


Familial cavernomas

Familial Cavernomas

  • Gunel, M., I. A. Awad, et al. (1996). "A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans." N Engl J Med334(15): 946-51.

  • Studied 57 Hispanic patients

    • 47 were from 14 different kindreds with familial CMs

    • 10 were sporadic cases

  • Found that all cases could be attributed to inheritance of the same mutation on 7q from a common ancestor with incomplete penetrance


Familial cavernomas1

Familial Cavernomas

  • Labauge, P., L. Brunereau, et al. (2000). "The natural history of familial cerebral cavernomas: a retrospective MRI study of 40 patients." Neuroradiology42(5): 327-32.

  • 40 patients with 3.2 year follow-up

  • 232 CMs, 5.9 per patient

  • Hemorrhagic risk 2.5% per lesion per year

  • 27.5% developed new CMs

  • Incidence of new lesions 0.2% per patient year

  • 3.9% of lesions in 22.5% of patients changed significantly in size


Familial cavernomas2

Familial Cavernomas

  • Labauge, P., L. Brunereau, et al. (2001). "Prospective follow-up of 33 asymptomatic patients with familial cerebral cavernous malformations." Neurology57(10): 1825-8.

  • Prospectively followed 33 asymptomaitic non-Hispanic patients with familial CMs for 2.1 years

  • Total of 234 CMs, mean 7.1 per subject, range 1-85 CMs per subject

  • 2 subjects became symptomatic (hemorrhage, seizure)

  • 30 new lesions appeared in 10 subjects (46%)

    • 0.4 lesions per year

  • Four lesions (1.7%) increased in size in 3 subjects (9.1%)


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