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At a glance

Neurodegenerative disorder with progressive atherosclerosis, bilateral myoclonus (particularly nocturnal), deafness, epilepsy, diabetes mellitus, premature vascular arterial changes favoring arteriosclerosis and nephropathy.

History

This medical condition was originally described in 1990 by Feigenbaum et al when two brothers presented the same symptomatology.

Incidence

Few cases have been reported in the literature.

Genetic inheritance

Uncertain; either X-linked or autosomal recessive.

Pathophysiology

The pathologic findings led the authors to conclude that the syndrome probably is caused by a mitochondrial defect in the respiratory chain and that it was the cause of the neuronal damage and of the premature atherosclerosis.

Diagnosis

Based mainly on the clinical findings. If this syndrome is suspected, skin fibroblast culture may show a partial deficiency of the mitochondrial enzymes of complexes III and IV.

Clinical aspects

The disease is slowly progressive, and the patients often die of complications in their third decade of life. Patients first present with sensorineural deafness at a young age and later present with other neurologic symptoms, such as deterioration in cognitive function, shuffling gait, incoordination, tremor, dysmetria, dysdiadokinesis, slurred speech, and finally photomyoclonic seizures. They may have increased spasticity mainly in the lower limb. Affected patients also present with diabetes mellitus Type I beginning in the 20s and nephropathy in the form of a Nephritic Syndrome. The other remarkable finding is the presence of severe atherosclerosis affecting mainly the coronary, renal, and cerebral vessels.

Precautions before anesthesia

In the presence of renal disease, hemoglobin level may be reduced, thus a complete blood cell count (CBC) is recommended. Also, because of the associated diabetes, patients will have delayed gastric emptying, so gastric prophylaxis is recommended prior to operation. Proper cardiac evaluation for signs of ischemia must be performed.

Anesthetic considerations

Keep in mind that gastric emptying is delayed and that a rapid sequence may be warranted, especially in the absence of a prophylaxis. However, with the combination of diabetes and atherosclerosis, patients are more prone to cardiac ischemia and renal and cerebral hypoperfusion. The recommendation is to prevent significant changes in blood pressure and to have a vasopressor, such as phenylephrine, readily available.

Pharmacological implications

Drugs used for seizure control can cause induction of liver enzymes, so the dose of certain medications, such as neuromuscular agents, may need to be increased.

References

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Feigenbaum  A, Bergeron  C, Richardson  R,  et al: Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder in two brothers: A new syndrome? Am J Med Genet 49:118, 1994.  [PubMed: 8172238]

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