PT Yu, HM Luk, IFM Lo

Abstract

Multiple café au lait spots is a common referral indication for assessment of possible syndromal disorder. Neurofibromatosis type 1 (NF-1) is a common disease in paediatric population, which characterised by café au lait spots, intertriginous freckling, neurofibroma, lisch nodules and/or osseous lesions. Plexiform neurofibroma, optic nerve and other central nervous system gliomas are occasionally seen. Legius syndrome is a relatively new disorder that being described in the literature since 2007, which present with NF-1 like features, including café au lait spot, freckles, macrocephaly and learning disability. However, it is not associated with benign or malignant tumours. Therefore, the differentiation between these two entities are important that not only for diagnosis, but also for prognosis counselling and follow up surveillance. Here, we report a child who initially referred for suspected NF-1, who is subsequently diagnosed to have Legius syndrome. Also, we have summarised and compared the clinical features of NF-1 and Legius syndrome, their difference in counselling and surveillance are also being discussed.

病童身體多處出現咖啡牛奶斑是評估其可能患上綜合徵病症時常用的參考指徵。神經纖維瘤病(NF-I)I型是兒科常見病，其特點為咖啡牛奶斑、間擦雀斑、神經纖維瘤、虹膜色素損害和／或骨損害。偶爾可見叢狀神經纖維瘤、視神經及其他中樞神經系統膠質瘤。Legius綜合徵是一種較新的疾病，自2007年以來已有文獻描述此綜合徵，具有NF-1樣的特徵，包括咖啡牛奶斑，雀斑，大頭畸形和學習障礙。然而，它與良性或惡性腫瘤無關。因此，區分這兩個病不僅對診斷，而且對預後諮詢和隨訪監測也很重要。在這裏，我們報告了一名兒童最初因懷疑患上NF-1而轉介到另一中心接受治療，後來被診斷出患有Legius綜合徵。此外，我們還對NF-1和Legius綜合徵的臨床特點進行了總結和比較，並對兩者在諮詢和監測方面的差異進行了討論。