10 yo old boy, healthy except for isolated unilateral ptosis, first noted by pediatric ophth age 3, clearly progressive over the years, now complete. No diplopia/ophthalmoplegia/abnormalities on prism cover test. Examined several times for ocular MG, all negative, including ice tests and mother taking AM/nighttime sets of photos of lid positions.
Pupils normal, including apraclonidine testing
MRI orbits negative in the orbits, but to our surprise, finds this:
"Enhancing lesions in both internal auditory canals, suggestive of vestibular Schwannomas which would indicate neurofibromatosis type II. There is also enhancement associated with the inferior portion of the right superior semicircular canal.
Rounded enhancing lesion near the right 5th nerve entry zone which may be along the right 5th nerve or possibly 4th nerve. Questionable similar enhancement on the left. No abnormal enhancement is noted to be associated with the right 3rd nerve. "
C spine then done:
"
Questionable enhancing focus in the right C2-3 neural foramen, possibly on the basis of a small schwannoma. "
Lumbar and thoracic spine
"IMPRESSION:
Small linear enhancement along the left S1 nerve root. Additional focal enhancement suspected along an additional nerve root on the left. Findings are most compatible with Schwannomas in the setting of neurofibromatosis type II.
No enhancing lesions in the thoracic spine."
MRI brain just shows the lesions above, nothing seen along third nerve. Has been reviewed again by neuroradiology
Genetic testing for NF-2 just came back +, but what is the mechanism of the ptosis? Is there a tiny schwannoma of the superior division of III that somehow spares the superior rectus and eludes neuroimaging?