A 13-year-old boy with seizure
What is your diagnosis?
A. Germinoma
B. Venous hemorrhagic infarction
C. AVMs
D. Multiple familial cavernoma syndrome
A.
B.
C.
?
?
？
The answer is Multiple Familial Cavernoma Syndrome
Cerebral cavernous malformations are relatively common, slow-flow venous malformations in the brain and spinal cord.
The diagnostic criteria for familial multiple cavernoma syndrome includes presence of multiple cavernomas (at least 5 or more) and their occurrence in at least two family members of a family.
SWI or GRE MRI are the recommended imaging sequences to look for size, number, and location of lesions by demonstrating multiple focal areas of susceptibility induced signal loss (C, arrows).
The signal intensity of the malformations appear varied on T1 and T2WI (A, B, arrows).
Hyperintense T1 components may suggest recent bleeding (A, arrow).
Surgery is indicated to prevent life threatening hemorrhage.
中文版：
男性，13歲，癲癇發作
診斷？
A. 生殖細胞瘤
B. 靜脈出血性梗死
C. 動靜脈畸形
D. 家族性顱內多發海綿狀血管瘤症候群
診斷：家族性顱內多發海綿狀血管瘤症候群
海綿狀血管畸形是一種血流緩慢的靜脈畸形，在腦和脊髓相對常見。
家族性顱內多發海綿狀血管瘤症候群的診斷標準包括：（1）多發海綿狀血管瘤（至少5個）；（2）家族中至少有兩位家庭成員發病。
MRI推薦序列為SWI或GRE，可清晰顯示病變大小、數量及位置，表現為因磁敏感效應而導致的多發局灶性信號減低（C,箭頭）。
該血管畸形在T1WI及T2WI序列信號不定（A,B箭頭）。
T1WI高信號提示近期出血（A,箭頭）。
建議外科手術治療，以防止致死性出血。
From AJNR Classic Case