Early cranial involvement is a feature, particularly the presence of both internal and external ophthalmoplegia
All those patients who had other associated conditions such as poor Bells' phenomenon, lagophthalmos, Horner syndrome, Chronic progressive external ophthalmoplegia
, Myasthenia gravis, Marcus gunn jaw winking syndrome, Blephrophimosis syndrome, third nerve palsy or traumatic ptosis were excluded from the study.
sup] Classically, KSS has a triad of features including onset before 20 years of age, progressive external ophthalmoplegia
(PEO), and pigmentary retinopathy.
In their study, published in EMBO Molecular Medicine, low-carbohydrate diet aggravated muscle damage in patients with a mitochondrial muscle disease called progressive external ophthalmoplegia
Legionellosis presenting as singultus and external ophthalmoplegia
Silicone slings for the correction of ptosis associated with progressive external ophthalmoplegia
External signs include chemosis, external ophthalmoplegia
, increased resistance to retropulsion, orbital ecchymosis, proptosis, and subconjunctival hemorrhage.
This results in complete ptosis, diplopia and external ophthalmoplegia
(vertical deviation and exotropia of the affected side).
The G451E mutation was found in a patient with autosomal dominant progressive external ophthalmoplegia
Acute onset of external ophthalmoplegia
, which is a cardinal feature of Miller-Fisher syndrome, was not seen in either of our patients, nor were features suggestive of autonomic dysfunction.
MNGIE is clinically characterized by progressive external ophthalmoplegia
, severe gastrointestinal dysmotility, cachexia, peripheral neuropathy, diffuse leukoencephalopathy on brain magnetic resonance imaging, and evidence of mitochondrial dysfunction (histologic, biochemical, or genetic abnormalities of the mitochondria) (1, 3, 6).