lunedì 26 luglio 2010

Chronic progressive external ophthalmoplegia


The extraocular muscles are atrophic and to some degree show fatty replacement. No abnormal enhancement is present. The globes are intact bilaterally. The intraorbital fat appears slightly increased. There is bilateral orbital proptosis with both globes anterior to the interzygomatic line.

Diagnosis: Chronic progressive external ophthalmoplegia

Key points

Chronic progressive external ophthalmoplegia (CPEO) is characterized by slowly progressive paralysis of the extraocular muscles.
Mitochondrial myopathy usually associated with skeletal muscle weakness.
Presents with bilateral, symmetrical, progressive ptosis, followed by ophthalmoparesis months to years later.

Kearns-Sayre syndrome: Related mitochondrial myopathy with CPEO, onset before age 20 years, pigmentary retinopathy, and at least one of the following: cardiac conduction defects, CSF protein of greater than 100 mg/dL, and/or cerebellar syndrome.
KSS can include mental retardation, hearing loss, seizures, short stature, delayed puberty, and various endocrine disorders.
Frequency: Rare. Males=Females.

Imaging studies: MRI, CT, and ultrasound may show thin, symmetrical extraocular muscles in CPEO, in contrast to enlarged extraocular muscles sometimes seen with Graves disease.
Those with KSS and CPEO display a wide spectrum of MRI findings, including normal brain, diffuse atrophy, and T2 prolongation in subcortical cerebral white matter, cerebellar white matter, globi pallidi, thalami, and substantia nigra.
Diagnosis: Muscle biopsy is definitive test but PCR also shown to be conclusive.

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