Table of Contents

HK J Paediatr (New Series)
Vol 23. No. 4, 2018

HK J Paediatr (New Series) 2018;23:294-297

Case Report

Café Au Lait Spots: What is the Diagnosis If It Is Not Neurofibromatosis Type I ?

PT Yu, HM Luk, IFM Lo


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.

Keyword : Legius syndrome; NF1-like; SPRED1 gene

Abstract in Chinese


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