Neurology病例:脑颅皮肤脂肪瘤病的临床和神经影像学特征

2022-08-06 神经科病例撷英拾粹 神经科病例撷英拾粹

病例:脑颅皮肤脂肪瘤病的临床和神经影像学特征。

60岁认知发育迟缓女性,表现为儿童期起病的癫痫发作和累及左半侧面部和眼睛的皮肤异常。查体可见脱发、脂肪痣(naevus psiloliparus)、皮下脂肪堆积和眼球突出(图1)。脑MRI可见颅内脂肪瘤病和左半侧巨脑畸形(图2),证实为脑颅皮肤脂肪瘤病(encephalocraniocutaneous lipomatosis,ECCL)。

ECCL,也称为Haberland或Fishman综合征,是一种罕见的先天性神经皮肤疾病,其特征是外胚层发育不全伴单侧皮肤、眼和脑受累。神经影像学特点包括颅内脂肪瘤病、软脑膜强化、多小脑回(polymicrogyria)和侧脑室扩大。鉴别诊断包括皮脂腺痣综合征(sebaceous naevus syndrome)、Proteus综合征、眼-脑-皮肤综合征(oculocerebrocutaneous syndrome)、Sturge-Weber综合征和半侧巨脑畸形。

(图1:这种综合征患者表现为皮肤肿瘤、脂肪痣、头皮中大而突起的软组织肿块[脂肪瘤]、脱发、眼球突出和导致面部不对称的下颌骨瘤)

(图2:轴位和冠状位T2WI[A-B]、轴位T2/FLAIR[C]、T1WI[D、E]和压脂矢状位T1WI可见左侧颞区广泛的脂肪瘤肿块[A,C];该图像还显示了其延伸至颞肌和球后脂肪的浸润;左侧额顶区域的颅内脂肪瘤病[B、D、E]延伸至上凸面;脂肪抑制信号的丢失表明其脂肪本质;[F]左侧半球增大和白质信号改变,以半侧巨脑畸形为特征[A-C])

 

[参考文献]

de Moraes MPM, Ferreira de Abrantes F, Tonholo Silva TY, Pedroso JL, Marussi VHR, Meneses A, Barsottini OGP. Clinical and Neuroimaging Features of Encephalocraniocutaneous Lipomatosis. Neurology. 2021 Oct 19;97(16):785-786. 

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