Primary concomitant horizontal strabismus as a clinical biomarker of severity in West Syndrome

Ophthalmic associations of West syndrome, a rare clinical triad comprising infantile spasms, a pathognomonic electroencephalogram pattern of paroxysmal activity called hypsarrhythmia and global developmental delay, usually associated with neuro-radiological anomalies, have been sparsely reported. We observed primary concomitant horizontal strabismus, mostly exotropia, and palpebral aperture abnormalities, mostly epicanthal folds, in a large subset of these subjects presenting to our tertiary care pediatric hospital and pediatric ophthalmology services.

This was a cross-sectional, observational, hospital-based study designed to descriptively record ophthalmic findings in children with West Syndrome with the aim to establish the array of ophthalmic associations of this condition. One hundred and eighteen consecutive subjects with the diagnosis of West syndrome, referred from the pediatric neurology division to the pediatric ophthalmology division, were recruited prospectively and evaluated comprehensively.

Primary concomitant horizontal strabismus (PCHS) was observed in 80/118 (67.79%) patients, exotropia in 58 and esotropia in 22 cases. Patients with PCHS had a significantly earlier age of onset as well as significantly increased number of drugs required to control the spasms as compared to the children without strabismus. 40/80 (50%) subjects of West Syndrome with PCHS demonstrated palpebral aperture anomalies, especially epicanthal folds, significantly more than subjects of WS without PCHS.

PCHS along with eyelid and palpebral fissure anomalies are visible phenotypes and thus, very useful ophthalmological clinical biomarkers for early identification of children with increased severity of West Syndrome, which aids the pediatric neurologist toward early management of this life-threatening recalcitrant seizure disorder, while imaging and electro-encephalography evaluation is ongoing.