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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.
Clinical features include significant atrophy of muscles innervated by cranial nerves and
corticobulbar tracts, dysphagia, ptosis, bilateral facial weakness, absent gag reflex,
and hyperreflexia.
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Fazio-Londe Syndrome/Disease.
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The original description was first reported in 1894 by
Paul F.L. Londe, a French neurologist, and E. Fazio, an Italian Physician.
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Depends on the genetic type. Very rare to frequent.
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Three forms: a very rare autosomal dominant
form, as described by Fazio, and both an early-onset and a late-onset
autosomal recessive form.
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Mechanism and/or cause unknown. 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.
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Mainly clinical with a bulbar motor neuronopathy,
preserved pyramidal tracts. Muscle biopsy and EMG may be helpful. Brainstem
auditory evoked potentials.
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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 from swallowing and feeding difficulties and recurrent
aspiration pneumonia. Auditory involvement is usually not present in
progressive bulbar palsy.
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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.
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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.
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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 is markedly
increased and proper neuromuscular monitoring is indicated.
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Brown-Vialetto-Van Laere Syndrome: Progressive pontobulbar palsy associated with sensorineural deafness; it
starts in late childhood or adolescence with progressive deafness.
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Congenital Foix-Chavany-Marie Syndrome: Suprabulbar
(pseudobulbar) palsy caused by bilateral anterior opercular lesions; it is
present from birth and characterized by dysphagia, dysarthria, and facial
diplegia; it can be associated with mental retardation.
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Kennedy Disease: Progressive X-linked
spinobulbar muscular atrophy with proximal muscle weakness and
fasciculations, caused by an abnormality in the gene for the androgen
receptor (chromosome locus Xq11-q12). Clinical features include gynecomastia,
testicular atrophy, and reduced fertility.
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Congenital Bilateral Perisylvian Syndrome (Bilateral
Opercular Syndrome): A structural malformation of the brain consisting of
polymicrogyria, i.e., the development of small and prominent convolutions separated by
shallow and enlarged ...