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CHLA Case Presentation

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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. – PowerPoint PPT presentation

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Title: CHLA Case Presentation


1
CHLA Case Presentation
2
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

3
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

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Differential Diagnosis
  • Cavernous malformation
  • Teratoma

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Procedure
  • Posterior fossa craniotomy with gross total
    resection of mass

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Diagnosis
  • Cavernous Malformation

14
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

15
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

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Cavernous Malformation
  • 9 of all types of brain vascular malformations
  • Prevalence is 0.4-0.8
  • MF ratio is11
  • Age at presentation 20-40
  • Present with headache, focal neurological
    deficit, seizures, hemorrhage

17
Cavernous Malformation
  • CM can repetitively hemorrhage resulting in
  • Gliosis
  • Tissue discoloration
  • Hemosiderin-laden macrophages
  • Microcalcification
  • Hyalinization
  • Cysts with blood breakdown products

18
Cavernous Malformation
  • Can be familial
  • Hispanic families
  • CCM1, 7q11-21
  • Non-Hispanic families
  • CCM2, 7p13-15
  • CCM3, 3q25.2-27

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Risk of hemorrhage
  • Cantu, C., L. Murillo-Bonilla, et al. (2005).
    "Predictive factors for intracerebral hemorrhage
    in patients with cavernous angiomas." Neurol Res
    27(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

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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." Neurosurgery 44(1) 41-6
    discussion 46-7.
  • 55 patients
  • 24 had CMs associated with VMs
  • FgtM
  • Greater risk of symptomatic hemorrhage (62 vs.
    38)
  • More likely to have lesions in the posterior
    fossa (P0.001)
  • Less likely to present with seizures
  • Less likely to have family history

21
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)

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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 Med
    334(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

23
Familial Cavernomas
  • Labauge, P., L. Brunereau, et al. (2000). "The
    natural history of familial cerebral cavernomas
    a retrospective MRI study of 40 patients."
    Neuroradiology 42(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

24
Familial Cavernomas
  • Labauge, P., L. Brunereau, et al. (2001).
    "Prospective follow-up of 33 asymptomatic
    patients with familial cerebral cavernous
    malformations." Neurology 57(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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