IllnessZerebrale cavernöse Malformation, Differentialdiagnose

NGS +

Cerebral cavernous malformations (CCMs) in brain or spinal cord stem from enlarged capillaries lacking ordinary vessel walls and/or intervening brain tissues, in size from millimeters to centimeters. They change size and become more numerous. CCMs are usually symptomatic from the 2nd - 5th decade via headache, hemorrhage, seizures, focussed neurologic signs, whereas nearly half remain symptomless throughout life. Cutaneous vascular lesions may rarely be observed as well. For familial CCM, a causative heterozygous pathogenic variant in either KRIT1, CCM2, or PDCD10 gene is detected in at least 75-97% of affected families. Hence the unconspicuous result does not formally exclude the clinical suspicion.

(Basic diagnostic genes: CCM2, KRIT1, PDCD10; additional genes: -).

Referenz: https://www.ncbi.nlm.nih.gov/books/NBK1293/

• Alias: Familial brain cavernous angioma
• Alias: Familial cerebral cavernoma
• Alias: Hereditary brain cavernous angioma
• Alias: Hereditary cerebral cavernoma
• Alias: Hereditary cerebral cavernous malformation
• Allelic: Hyperkeratotic cutaneous capillary-venous + cerebral capillary malformations (KRIT1)
• Aneurysm, intracranial berry, 12 (THSD1)
• Brain aneurysm [MONDO:0005291] (ANGPTL6)
• Cavernous malformations of CNS + retina (KRIT1)
• Cerebral cavernous malformations-1 (KRIT1)
• Cerebral cavernous malformations-2 (CCM2)
• Cerebral cavernous malformations-3 (PDCD10)