Progressive Bulbar Palsy of Childhood

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.

Fazio-Londe Syndrome/Disease.

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

Depends on the genetic type. Very rare to frequent.

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

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.

Mainly clinical with a bulbar motor neuronopathy, preserved pyramidal tracts. Muscle biopsy and EMG may be helpful. Brainstem auditory evoked potentials.

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.

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.

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.

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.

Brown-Vialetto-Van Laere Syndrome: Progressive pontobulbar palsy associated with sensorineural deafness; it starts in late childhood or adolescence with progressive deafness.

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.

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.

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 sulci. MRI scan shows irregular thickening and a lumpy aspect of the brain. Clinically characterized by paralysis of the face, tongue, and hypopharynx, with dysarthria and severe drooling. Most patients present seizures (onset age is 4 to 12 years; seizures are poorly controlled in 60% of cases) and severe cognitive deficit. Most seizures are atypical absences, tonic or atonic drop attacks. Tonic-clonic seizures (e.g., Lennox-Gastaut syndrome) are also present. Arthrogryposis has been described.

Worster-Drought Syndrome: Upper motor neuron bulbar palsy leading to “cerebral palsy-like syndrome” involving only the muscle of the mouth, tongue, and pharynx. The signs and symptoms include difficulties with voluntary lip, tongue, and palate movements, with a brisk jaw jerk.

Biparietal Polymicrogyria Syndrome: A malformation of the cerebral cortex, giving the surface of the brain a lumpy aspect. Possibly a variant of the bilateral perisylvian syndrome in which the radiologic features include a longitudinal extension of the sylvian fissure, involvement of the posterior insular cortices, and dysmorphic cerebral ventricles.