A rare cause of congenital ptosis with external ophthalmoplegia: case report and differential diagnosis


Ptosis and external ophthalmoplegia are main signs of some neurological diseases in childhood. An accurate assignment has diagnostic and therapeutic consequences. A seven months old girl presented with congenital bilateral ptosis and a movement disorder with head reclination. On physical examination there was both vertical and horizontal gaze palsy. No further neurological abnormalities were noted. Differential diagnosis includes CFEOM (“congenital fibrosis of the extraocular muscles”), congenital myasthenic syndromes and CPEO (“chronic progressive external ophthalmoplegia”) in the context of mitochondrial diseases.


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