Encephalocraniocutaneous Lipomatosis Without Ocular Malformations

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• 作者：Jelena Radić Ni&scaron ; ević ; MD^a ; ^{jelaradi@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Igor Prpić ; MD ; PhD^a ; Ronald Antulov ; MD ; PhD^b ; Antun Sasso ; MD ; PhD^a ; Izidora Holjar Erlić ; MD^b
• 关键词：encephalocraniocutaneous lipomatosis ; neurocutaneous syndrome ; diagnostic criteria ; differential diagnosis
• 刊名：Pediatric Neurology
• 出版年：2016
• 出版时间：July 2016
• 年：2016
• 卷：60
• 期：Complete
• 页码：71-74
• 全文大小：707 K

文摘

Encephalocraniocutaneous lipomatosis is a rare congenital neurocutaneous syndrome resulting from ectomesodermal dysgenesis and characterized by unique hairless scalp lesions in the form of nevus psiloliparus, ipsilateral ocular malformations, and central nervous system anomalies. According to the 2009 diagnostic criteria proposed by Moog et al., ocular abnormalities are supposed to be the most consistent feature of encephalocraniocutaneous lipomatosis.

Patient Description

We describe an 18-year-old girl with most of the central nervous system manifestations of encephalocraniocutaneous lipomatosis, major skin alterations including nevus psiloliparus, but no ocular involvement.

Conclusion

Our patient suggests more variability in clinical features and a more complex genetic/embryonic etiology of encephalocraniocutaneous lipomatosis.