Dr. Rekha Sravya M. R17901, Dr. Yogeswari Alagappan, Dr. Rohini A.
Surya,11/M, came with complaints of droopy eyelids, RE-since 6yrs, LE-since 6 months, progressive in nature with gradual restriction of eye movements. No h/o diplopia, dysphagia, hearing impairment. On examination, Child had growth retardation with short stature and poor built. Both eyes showed severe ptosis, extraocular movement restriction in all directions was seen. Fundus showed pigmentary retinopathy. Blood investigations revealed hypocalcemia (Ca-6.5md/dl). Cardiac evaluation was normal. Muscle biopsy showed muscular dystrophy. CSF analysis was insignificant.
Pushpa,22/F, came with complaints of diminution of vision for distant objects for 12 years. H/o drooping of both upperlids since 10yrs of age, which was progressive. No H/o diplopia. H/o headache on and off. On ocular examination, BE ptosis+, extraocular movements restricted in all directions, microsomia, hypoacusis+, myopathic facies+. Fundus showed pigmentary retinopathy. Tests for myasthenia gravis negative. Cardiac evaluation normal. Muscle bio