一名患有先天性脑积水的新生儿中与表皮生长因子受体 1 相关的脑颅皮肤脂肪瘤病

Masashi Zuiki , Tomohiro Chiyonobu , Hidechika Morimoto , Hiroko Sawada , Takenori Tozawa , Kanae Hashiguchi , Tatsuji Hasegawa , Takumi Yamanaka , Tetsuya Niihori , Yoko Aoki , Tomoko Iehara
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摘要

背景脑颅皮肤脂肪瘤病(ECCL)是一种镶嵌型RAS病,是一种罕见的神经皮肤综合征,其特征是外胚层和中胚层组织受累,包括皮肤、眼部和神经系统异常。本报告介绍了一例患有 ECCL 的新生儿,其脑积水在出生前迅速发展。病例介绍一名足月女婴出生时出现头围增大、双侧毛发形态异常和脱发。脑成像检查显示侧脑室增大,枕骨大孔内有脂肪团块,提示为脂肪瘤。第 18 天进行了脑室腹腔分流术和头部皮损活检。这些临床、脑部影像学和皮肤病理检查结果导致了 ECCL 的明确诊断。此外,在头皮病变的组织样本中,靶向重测序发现了 FGFR1 的激活镶嵌变体。患者现年 2 岁,迄今健康状况良好,发育正常,无脂肪瘤扩大或异常神经系统体征和症状。在本病例中,早期进行脑室腹腔分流术后患神经系统预后良好,脂肪瘤没有扩大。
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FGFR1 related Encephalocraniocutaneous lipomatosis in a neonate with congenital hydrocephalus

Background

Encephalocraniocutaneous lipomatosis (ECCL), a type of mosaic RASopathy, is a rare neurocutaneous syndrome characterized by the involvement of tissues with ectodermal and mesodermal origins, including cutaneous, ocular, and neurological abnormalities. This report presents a case of a neonate with ECCL showing rapid progression of hydrocephalus prenatally.

Case presentation

A full-term female newborn presented with head circumference enlargement and a bilateral abnormal hair pattern with alopecia at birth. Brain imaging studies showed an enlarged lateral ventricle and fatty mass in the foramen magnum, suggestive of lipomas. Ventriculoperitoneal shunting and a biopsy of the skin lesion on the head were performed on day 18. These clinical, brain imaging, and cutaneous pathological findings led to the definitive diagnosis of ECCL. Furthermore, targeted resequencing revealed an activating mosaic variant of FGFR1 in tissue samples of scalp lesions. The patient is now 2 years old with good health and normal development so far, without lipoma expansion or abnormal neurological signs and symptoms.

Conclusion

Genetic analysis of lesions is important in cases of congenital hydrocephalus with intraspinal lipoma or nevus psiloliparus. In the present case, ventriculoperitoneal shunting early in life resulted in a good neurological prognosis without lipoma expansion.

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