Familial dysautonomia (Riley-Day syndrome). Temporal bone findings and otolaryngological manifestations.
Familial dysautonomia, or Riley-Day syndrome, is inherited in an autosomal recessive fashion and occurs almost exclusively in Jewish families. This disorder is characterized by a smooth tongue devoid of fungiform papillae and of taste buds, and is clinically associated with poor taste discrimination. An unsteady gait and dizziness on change in position are also common presenting symptoms. This study reports the histopathological findings of eight temporal bones from four patients with documented familial dysautonomia. For the control series, 13 normal temporal bones were also studied. The most striking finding in the dysautonomic patients was an extreme paucity of geniculate ganglion cells (P less than 0.001). A statistically significant reduction in the number of neurons was also found both in the superior and in the inferior divisions of the vestibular nerve (P less than 0.001). The paucity of the geniculate ganglion cells correlates well with the impairment of the taste in dysautonomic individuals, since the afferent fibers leaving taste buds of the anterior two-thirds of the tongue run via the chorda tympani and have their cell bodies in the geniculate ganglion. Furthermore, the reduction in the number of Scarpa's ganglion cells observed in the dysautonomic patients studied here could account for a poor response to caloric test, positional vertigo and an unsteady gait in this condition.
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D001306:Auditory Pathways / Q000473:pathology; D002452:Cell Count; D002648:Child; D002675:Child, Preschool; D004402:Dysautonomia, Familial / Q000473:pathology* / Q000503:physiopathology; D005154:Facial Nerve / Q000473:pathology; D005260:Female; D005830:Geniculate Ganglion / Q000473:pathology; D006801:Humans; D007223:Infant; D007765:Lacrimal Apparatus / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D012120:Respiration Disorders / Q000503:physiopathology; D013701:Temporal Bone / Q000473:pathology*; D014059:Tongue / Q000473:pathology; D014725:Vestibular Nerve / Q000473:pathology; D014722:Vestibule, Labyrinth / Q000503:physiopathology; D000159:Vestibulocochlear Nerve / Q000473:pathology