Dr. Neha Sachdeva

Dr. PRAMOD KUMAR PANDEY, DR RUPAK BRAHMA CHOUDHURY, DR. PRIYA SARAF

Abstract

A boy aged 6 years presented with unilateral non- hereditary moderate left eye ptosis present since birth. On examination, cover tests did not reveal any ocular misalignment and ocular movements were full. Left gaze evoked upshoot of the left eye and worsening of ptosis was noted. Ptosis resolved completely in right gazes (. No other synkinetic movements were noted, pupils were unremarkable. In a child with unilateral congenital ptosis with medial rectus- levator palpebrae superioris (MR-LPS) synkinesis, the coexisting hitherto unreported likely lateral rectus- superior rectus (LR-SR) dysinnervation is reported. Such a presentation can only arise from 2 concurrent dysinnervations, first between inferior and superior divisions of 3rd nerve and second between 3rd and 6th cranial nerve. The dysinnervation may be a forme- fruste phenotype of congenital fibrosis of the extraocular muscles (CFEOMs) and can be classed as a novel congenital cranial dysinnervation disorder (CCDD).