(25) Hypogonadism has been found in mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, chronic progressive external ophthalmoplegia
, mitochondrial neuro gastro intestinal encephalopathy, Kearns-Sayre syndrome, and several non-specific MIDs.
On performing an examination, he had proptosis, periorbital puffiness, dilated episcleral vessels, sluggish pupillary reflex, external ophthalmoplegia
, and diminished vision.
Berio and Piazzi  had reported another case of chronic progressive external ophthalmoplegia
with severe scoliosis.
Moreover, 60 min after admission, he developed ptosis, external ophthalmoplegia
, and poor gag reflex with difficulty in speech as well as swallowing, areflexia, and diminished strength in all four limbs as evident on neurological examination.
Several mutations in the MT-TY gene coding for tRNA Tyrosine have been reported (https://www.mitomap.org), with clinical phenotypes ranging from chronic external ophthalmoplegia
to cardiomyopathy (Table 1).
Early cranial involvement is a feature, particularly the presence of both internal and external ophthalmoplegia
. Neurophysiological studies reveal low-amplitude compound muscle action potentials with normal motor conduction velocities, normal sensory studies and normal response to repetitive stimulation.
Progressive external ophthalmoplegia
: a paraneoplastic manifestation of lymphoma.
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.
Kress et al., "Progressive external ophthalmoplegia
as initial manifestation of sporadic late-onset nemaline myopathy," Journal of Neurology, vol.
In the following analysis, we focused on mitochondrial gene mutation hot spots (59 sites), dominant optic atrophy gene (OPA1-8), external ophthalmoplegia
and Wolfram (WFS) hotspot mutations, retinitis pigmentosa, macular degeneration-related genes, and rare sites including morning glory, small eye, and open-angle glaucoma.
Legionellosis presenting as singultus and external ophthalmoplegia
. Neurol Sci.