1 / 24

CHLA Case Presentation

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

Download Presentation

CHLA Case Presentation

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript


  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

  4. Differential Diagnosis • Cavernous malformation • Teratoma

  5. Procedure Posterior fossa craniotomy with gross total resection of mass

  6. Diagnosis Cavernous Malformation

  7. 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

  8. 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

  9. 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

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

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

  12. 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

  13. 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

  14. 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”)

  15. 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

  16. 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

  17. 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%)

More Related