Bilateral external ophthalmoplegia

Congenital external ophthalmoplegia.

Chronic Progressive External Ophthalmoplegia

S U M M A R Y — Th i s s tudy quantif ies the m a i o r e lect ron m i c r o s c o p i c changes in l imb muscle b iops ies f r o m 31 out of 34 pat ients wi th the s y n d r o m e of ch ron ic p rogress ive external oph tha lmopleg ia . Pat ients w e r e d iv ided into three cl inical g r o u p s — A ) 10 sporad ic cases wi th musc l e weakness o n l y ; B ) 9 familial cases w i t h musc le we...

Bilateral internuclear ophthalmoplegia following head trauma

A 35‐year‐old male presented to the emergency department (ED) after a traffic accident. The patient had a frontal scalp laceration, brief loss of consciousness with retrograde amnesia, headache, and dizziness. There was no evidence of ocular or periorbital trauma. Initially, brain computed tomography performed in the ED revealed no specific finding. After regaining full consciousness, the patie...

Reversible bilateral internuclear ophthalmoplegia associated with FK506.

A 50 year old man developed tonic-clonic seizures while receiving cyclosporin A after orthotopic cardiac transplant. The seizures resolved after cessation of cyclosporin A. Thirteen months later, he developed diplopia from bilateral internuclear ophthalmoplegia while receiving intravenous FK506. A temporal association was found between his symptoms and the serum FK506 concentrations. Withdrawal...

Orthostatic tremor, progressive external ophthalmoplegia, and Twinkle.

IMPORTANCE Orthostatic tremor (OT) is a high-frequency (13-18 Hz) leg tremor occurring in standing position. Orthostatic tremor has an unknown pathophysiologic mechanism. It is thought to be sporadic but siblings with OT from 3 unrelated families were reported. No mutations have been reported in OT. We describe a patient with OT carrying a C10orf2 TWINKLE mutation to highlight the possible asso...