An extremely rare case

22 year old female with painless slowly progressive, ophtalmoplegia with diplopia and ataxia.

On physical examination we found this:

  • Short stature.
  • Arrhythmic heart sounds.
  • Bilateral ptosis.
  • Ophtalmoplegia.

Ptosis & ophtalmoplegia

Bilateral fundoscopy examination:

Eye Another Eye

A characteristic bilateral pigmentary retinosis.

An EKG was performed:

1st degree AV block
A first degree AV block was found on this patient.

Then we ordered a lumbar punction to chemical and cytologic analysis.

The cerebrospinal fluid was cloudy with no other anormalities except elevated proteins (>100mg/dL).

With this data now we can think about a chronic progressive external ophtalmoplegia.

Differential diagnosis should include:

  1. Isolated CPEO
  2. Kearns-Sayre syndrome
  3. Oculopharyngeal muscular dystrophy
  4. Myotubular myopathy
  5. Myotonic dystrophy
  6. Oculopharyngeal muscular dystrophy

The next step in the diagnosis of this case is to perform an electromyography (myophatyc pattern), electrorretinography (slow transmission) and a muscle biopsy.

The diagnosis is:

Kearns-Sayre syndrome wich is a mitochondrial cytopathy that is characterized by CPEO, retinal pigmentary changes, and heart block. Patients are typically normal at birth. Progressive ophthalmoplegia usually develops between 5 and 20 years of age, although it may occur earlier. Most cases are sporadic.

The ocular findings include bilateral and symmetric involvement of the horizontal and vertical muscles, bilateral ptosis, and normal pupils. An atypical pigmentary retinopathy (“salt and pepper”) may be present; some patients have a corneal opacity. The ophthalmoplegia progresses slowly over many years and is often asymptomatic because it is insidious and bilaterally symmetric. As the extraocular myopathy progresses, generalized muscle weakness and other systemic manifestations may occur.

Nonocular manifestations include:

  • Cardiac — Heart block, sometimes even sudden death (may require monitoring with sequential electrocardiograms or treatment with a pacemaker) [2,3]
  • Neurologic — Deafness and vestibular dysfunction, cerebellar ataxia, corticospinal dysfunction, electroencephalogram abnormalities, elevated cerebrospinal fluid protein (>100 mg/dL), or widespread muscular dystrophy
  • Endocrine and metabolic — Short stature.

Images and clinical case information provided by: Dr. Arturo Ramírez M. from Mexico City.

Thank you for your support, Arturo.

Regards,

Jon Mikel Iñarritu, M.D.

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