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At a glance

A very rare inherited condition characterized by progressive degeneration of bulbar nuclei and anterior horn cells of the cranial nerves with little or no involvement of the spinal cord. Sensorineural deafness and respiratory compromise. Clinical features include significant atrophy of muscles innervated by cranial nerves and corticobulbar tracts, dysphagia, ptosis, bilateral facial weakness, absent gag reflex, and hyperreflexia.

Synonyms

Fazio-Londe Disease; Fazio-Londe Syndrome.

History

The original description was first reported in 1894 by Paul F. L. Londe, a French neurologist, and E. Fazio, an Italian Physician.

Incidence

Fewer than 100 cases described.

Genetic inheritance

Three forms: a very rare autosomal dominant form, as described by Fazio, and both an early-onset and a late-onset autosomal recessive form.

Pathophysiology

Caused by mutation in the SLC52A3 gene on chromosome 20p13. This gene codes for the intestinal riboflavin transmembrane transporter protein. The water-soluble vitamin riboflavin is converted to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), and is essential for normal cellular functions. Clinically it is the result of degeneration of motor neurons arising from bulbar nuclei. Upper motor neurons are normal. The denervation injury is associated with reinnervation from adjacent motor unit, making giant motor units. This degenerative mechanism seems to begin in fetal life and progressing in infancy and childhood.

Diagnosis

Mainly clinical with a bulbar motor neuronopathy, preserved pyramidal tracts. Muscle biopsy and electromyography (EMG) may be helpful. Brain stem auditory evoked potentials. Plasma riboflavin, flavin mononucleotide (FMN), and FAD concentrations measurements.

Clinical aspects

Usually a child presents with difficulties in swallowing, facial weakness, immobile vocal cords, and ptosis. There is an absent gag reflex and generalized hyperreflexia. Death occurs between the ages of 3 and 10 years if untreated from swallowing and feeding difficulties and recurrent aspiration pneumonia. Auditory involvement is usually not present in progressive bulbar palsy. Successful treatment is with riboflavin (10-15 mg/kg/day). The time for response may vary up to months in some children.

Precautions before anesthesia

Obtain complete medical history, particularly about muscle wasting, previous complications, especially aspiration pneumonia, respiratory failure, or anesthesia related complications. Assess airway control and importance of bulbar palsy.

Anesthetic considerations

Should always be considered a high-risk candidate for gastric content regurgitation and pulmonary aspiration. Because of poor airway control and weak ventilatory muscles, extubate the trachea only when the patient is fully awake. Postoperative mechanical ventilatory support is mandatory after major surgery.

Pharmacological implications

As with other lower motor neuron disease it is recommended to avoid succinylcholine (hyperkalemic cardiac arrest). The sensitivity and duration of action of nondepolarizing drugs ...

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