Abstract:
Hydrocephalus is uncommon in horses. However, in recent years, it has become clear that the prevalence of hydrocephalus is
greater in Friesian horses than in other breeds probably due to their limited gene pool. Before identification of candidate genes
that predispose to the development of hydrocephalus in Friesian horses can be pursued, an in-depth, phenotypic, pathological
description of the condition in Friesians would be of great benefit. Our study aimed to characterize the morphology of hydrocephalus
in Friesian horses, to support further investigation of the genetic background of this condition. Four stillborn Friesian
foals with hydrocephalus were examined macroscopically and microscopically and compared with 2 normal stillborn Friesian foals
without hydrocephalus. In all clinical cases, tetraventricular and venous dilatations were observed, together with malformation of
the petrosal bone and, as a result, narrowing of the jugular foramen. These observations suggest a communicative hydrocephalus
with a diminished absorption of cerebrospinal fluid into the systemic circulation at the venous sinuses due to a distorted,
nonfunctional jugular foramen. This type of hydrocephalus is also recognized in humans and dogs and has been linked genetically
to chondrodysplasia; this has already been recognized in dwarfism, which is another monogenetic defect in Friesian horses.
