Answer for BIR CoW 24 Jan 2021
MULTIPLE CAVERNOMA SYNDROME
Findings
• Multiple discrete foci of blooming noted in bilateral cerebral hemispheres predominantly bilateral parieto occipital regions, bilateral thalami and bilateral centrum semiovale.
• Focal large lesion with (popcorn like appearance) and blooming on susceptibility weighted images noted in right anterior aspect of pons.
• On contrast administration lesion shows no enhancement in subtracted images.
• The above features were suggestive of Multiple cavernoma syndrome.
• There was family history of relative having underwent surgery for Cavernoma earlier which supported the diagnosis .
Discussion
• Cerebral cavernous malformations (CCM) are low flow vascular malformations in brain and the spinal cord having haemorrhage in various stages of evolution. They represent 5-13 % of central nervous system vascular malformations .
• These are usually single and asymptomatic, however multiple CCM may occur in familial form associated with CCM genes.
• These CCM may be asymptomatic or may cause headache, epilepsy, intracerebral hemorrhage, and/or focal neurologic deficits .
• Repeated hemorrhages can result in degeneration. Death may occur due to haemorrhage in lesions particularly brainstem lesions.
• CCM can occur anywhere in the brain and the spinal cord, most common location being supratentorial brain parenchyma (75%) CRITERIA FOR FAMILIAL CAVERNOMA SYNDROME
The definition of familial multiple cavernous malformation syndrome is when there is one or more of the following :
• Multiple cerebral cavernous malformations
• five or more cavernomas, or
• one cavernoma and at least one other family member with one or more cavernomas
• Mutations in one of the three genes, KRIT1, CCM2 or PDCD10, which are associated with this disease
IMAGING
• MRI is the imaging modality of choice for diagnosis as well as for monitoring the evolution of lesions.
• Gradient echo sequences/Susceptibility weighted images are highly sensitive to pick up more lesions.
• On T2W sequences, CCM appear as well defined, popcorn like lesions with mixed signal intensity due to haemorrhage in various stages. A peripheral low signal intensity hemosiderin ring is seen on T2W sequences and gradient echo images .
• Contrast MRI is usually not required for diagnosis of CCM, however it helps in characterization of other associated vascular malformations like capillary telangiectasia, aneurysms, and arteriovenous malformations.
• The lesions demonstrating T1W/T2W hyperintense signal and/or perilesional edema are suggestive of recent bleed. It is important to identify these lesions as they are associated with recurrent bleeding.
• Screening MRI of symptomatic as well as asymptomatic siblings should be advised to find out the number, location and size of lesions.
DIFFERENTIAL DIAGNOSIS
• HYPERTENSIVE BLEED –History of Hypertension with typical site involvement
• AMYLOID ANGIOPATHY- Mocrohemorrhages associated with Lobar Hemorrhages
REFERENCES [1] McCormick WF, Hardman JM, Boulter TR (1968) Vascular malformations (“angiomas”) of the brain, with special reference to those occurring in the posterior fossa. J Neurosurg 28(3):241–251 [2] Giombini S, Morello G (1978) Cavernous angiomas of the brain: account of fourteen personal Fact cases and review of the literature. Acta Neurochir (Wien) 40(1–2):61–82 (PMID: 654971) [3] Brunereau L, Labauge P, Tournier-Lasserve, Laberge S, Levy C, Houtteville J (2000) Familial Form of Intracranial Cavernous Angioma: MR Imaging Findings in 51 Families. Radiology 214:209-216 [4] Brunereau, L, Levy, C, Laberge, S, et al (2000) De novo lesions in familial form of cerebral cavernous malformations: clinical and MR features in 29 non-Hispanic families. Surg. Neurol 53: 475–82
Findings
• Multiple discrete foci of blooming noted in bilateral cerebral hemispheres predominantly bilateral parieto occipital regions, bilateral thalami and bilateral centrum semiovale.
• Focal large lesion with (popcorn like appearance) and blooming on susceptibility weighted images noted in right anterior aspect of pons.
• On contrast administration lesion shows no enhancement in subtracted images.
• The above features were suggestive of Multiple cavernoma syndrome.
• There was family history of relative having underwent surgery for Cavernoma earlier which supported the diagnosis .
Discussion
• Cerebral cavernous malformations (CCM) are low flow vascular malformations in brain and the spinal cord having haemorrhage in various stages of evolution. They represent 5-13 % of central nervous system vascular malformations .
• These are usually single and asymptomatic, however multiple CCM may occur in familial form associated with CCM genes.
• These CCM may be asymptomatic or may cause headache, epilepsy, intracerebral hemorrhage, and/or focal neurologic deficits .
• Repeated hemorrhages can result in degeneration. Death may occur due to haemorrhage in lesions particularly brainstem lesions.
• CCM can occur anywhere in the brain and the spinal cord, most common location being supratentorial brain parenchyma (75%) CRITERIA FOR FAMILIAL CAVERNOMA SYNDROME
The definition of familial multiple cavernous malformation syndrome is when there is one or more of the following :
• Multiple cerebral cavernous malformations
• five or more cavernomas, or
• one cavernoma and at least one other family member with one or more cavernomas
• Mutations in one of the three genes, KRIT1, CCM2 or PDCD10, which are associated with this disease
IMAGING
• MRI is the imaging modality of choice for diagnosis as well as for monitoring the evolution of lesions.
• Gradient echo sequences/Susceptibility weighted images are highly sensitive to pick up more lesions.
• On T2W sequences, CCM appear as well defined, popcorn like lesions with mixed signal intensity due to haemorrhage in various stages. A peripheral low signal intensity hemosiderin ring is seen on T2W sequences and gradient echo images .
• Contrast MRI is usually not required for diagnosis of CCM, however it helps in characterization of other associated vascular malformations like capillary telangiectasia, aneurysms, and arteriovenous malformations.
• The lesions demonstrating T1W/T2W hyperintense signal and/or perilesional edema are suggestive of recent bleed. It is important to identify these lesions as they are associated with recurrent bleeding.
• Screening MRI of symptomatic as well as asymptomatic siblings should be advised to find out the number, location and size of lesions.
DIFFERENTIAL DIAGNOSIS
• HYPERTENSIVE BLEED –History of Hypertension with typical site involvement
• AMYLOID ANGIOPATHY- Mocrohemorrhages associated with Lobar Hemorrhages
REFERENCES [1] McCormick WF, Hardman JM, Boulter TR (1968) Vascular malformations (“angiomas”) of the brain, with special reference to those occurring in the posterior fossa. J Neurosurg 28(3):241–251 [2] Giombini S, Morello G (1978) Cavernous angiomas of the brain: account of fourteen personal Fact cases and review of the literature. Acta Neurochir (Wien) 40(1–2):61–82 (PMID: 654971) [3] Brunereau L, Labauge P, Tournier-Lasserve, Laberge S, Levy C, Houtteville J (2000) Familial Form of Intracranial Cavernous Angioma: MR Imaging Findings in 51 Families. Radiology 214:209-216 [4] Brunereau, L, Levy, C, Laberge, S, et al (2000) De novo lesions in familial form of cerebral cavernous malformations: clinical and MR features in 29 non-Hispanic families. Surg. Neurol 53: 475–82
Note:
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!