PP199 : A rare case of Neurofibromatosis with double elevator palsy.

Dr.MASHRU NANDISH RASHMIKANT

BACKGROUND:

Neurofibromatosis 1 (NF1) (von Recklinghausen disease) is an autosomal dominant familial tumor syndrome that mainly affects the skin and peripheral nervous system, and is characterized by bony dysplasia. We report a rare case of congenital double elevator palsy with NF 1.

CASE PRESENTATION:

A 48 years old female presented with ptosis and no elevation in right eye. On the initial physical examination, a clinical diagnosis of NF 1 with congenital double elevator palsy was made. Anterior segment examinations showed Lisch nodules in iris in both eyes. RE was pseudophakic and LE had cataract. Vision in RE was 3/60 due to amblyopia, and in LE was 6/9. MRI was normal.

This patient having NF 1 with congenital double elevator palsy was our observational finding. There were no previous studies having reported such rare association in pubmed.