Abstract
Neurofibromatosis1 is an autosomal dominant neurocutaneous disorder occurs due to mutation of NF1 gene on chromosome 172. It affects 1 in 3000 births.There is no sex or racial predilection. It is a multiorgan disease affecting nervous system ,skin and bones. Most cases with NF1 develop hyperpigmented cutaneous macule (café au lait macules),skinfold freckling,lisch nodules and dermal neurofibroma1 Here, we present a case of 4 year old boys with NF1. He was seen by many ophthalmologist outside and was diagnosed with congenital ptosis and reffered to our institute for ptosis management. Ptosis and deterioration of vision is an uncommon presentation.He presented with multiple cutaneous macules,plexiform neurofibroma, ptosis and sphenoid wing dysplasia on imaging. Here, we present a cse report on neurofibrmatosis(NF1) in a four year old child presenting in this mode. The diagnosis of NF1 was made according to the diagnostic criteria laid by National Institute of Health Consensus Development Conference1.
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