Horner Syndrome, Congenital

Description

Horner syndrome, resulting from unilateral paralysis of the cervical sympathetics, comprises the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis. Iris heterochromia may also be present (Takanashi et al., 2003).

Clinical Features

Durham (1958) described congenital Horner syndrome in a boy and his father, paternal aunt and uncle and a first cousin. The boy showed ptosis and pupillary changes on the left. The right iris was brown, the left blue. These findings, like those of Calhoun (1919), illustrate the role of normal sympathetic innervation of the iris in its pigmentation.

Hageman et al. (1992) described a Dutch family with congenital Horner syndrome in 5 individuals in 5 generations. There was at least 1 instance of male-to-male transmission.

Takanashi et al. (2003) reported 2 unrelated infants, a boy and a girl, with infantile Horner syndrome. Both presented by age 9 months with left ptosis, ipsilateral miosis, and contralateral rhinorrhea caused by ipsilateral nasal obstruction due to an enlarged edematous lower turbinate. The girl also had ipsilateral facial anhidrosis, but neither child had heterochromia. Takanashi et al. (2003) noted that in the nasal mucosa, sympathetic blockade results in vasodilation with venous engorgement and decreased nasal airway patency (see Shaari and Scherl, 1994).

History

Thompson (1986) provided a biographical sketch of Horner. Horner is also noted for having first reported the characteristic pedigree pattern of colorblindness (see 303800).