PubMed · 2209426
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F M Böcker. 1990-09-21. [Pseudobulbar paralysis].. https://pubmed.ncbi.nlm.nih.gov/2209426/
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This 58-year-old female presented with a history of difficulties in swallowing for 30 years. No diagnosis was made in spite of repeated investigations including barium-contrast radiography. A probative strumectomy and psychotherapy were unsuccessful. After an episode of major depression the swallowing disturbances increased. In addition the patient complained of mastication difficulties and was dysarthric. Finally, neurological examination and neurophysiological studies established the diagnosis of progressive bulbar palsy.
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Fazio-Londe disease is a label sometimes applied to a degenerative disease of the motor neurons characterized by progressive bulbar paralysis in children. It is very rare with only 22 case reports describing 24 children including four sibling pairs. In two reports mothers and sons were affected. The neuropathology is described in only four cases. Previous authors have recognized that the condition is very heterogeneous. The clinical features of five children with this type of progressive bulbar paralysis, diagnosed at this hospital between 1969 and 1989, are reviewed, and in two cases neuropathological findings are detailed. Based on this experience, suggested criteria for diagnosis include clinical features of a pure motor neuronopathy affecting the bulbar nuclei, exclusion of other causes of progressive bulbar paralysis and positive support for the diagnosis from electromyography and/or pathological examination. A review of the literature, combined with the present series, suggests that there are at least three distinct subtypes: a very rare autosomal dominant form (as described by Fazio) and two variants with probable autosomal recessive inheritance either with early onset of respiratory symptoms and rapid progression to death or later onset, less prominent respiratory symptoms and protracted clinical course. There is strong concordance for each clinical pattern within families.