An inherited syndrome combining ataxia, corneal
dystrophy, and orthopedic anomalies.
Der Kaloustian Jarudi Khoury Syndrome; Spinocerebellar
Degeneration and Corneal Dystrophy; Corneal-Cerebellar Syndrome; Corneal
Dystrophy with Spinocerebellar Degeneration.
Extremely rare genetic autosomal
recessive disorder. It has been described in only two sisters of healthy, but
consanguineous parents. Autosomal recessive inheritance has been suggested.
Onset is in the second year of life, when
bilateral corneal opacifications of the corneas (which eventually result in
severe visual impairment) and slowly progressive cerebellar anomalies with
variable spinocerebellar involvement begin. Patients may be mentally
delayed. In addition to the ocular findings (ptosis, corneal edema, pannus
and dystrophy with clouding and visual loss requiring penetrating
keratoplasty), the disorder may involve the face (triangular shape,
micrognathia, low-set ears with posterior angulation), the nervous system
(abnormal electroencephalogram, spinocerebellar degeneration, ataxia,
muscular hypertonia and spasticity, hemiparesis), and the musculoskeletal
system (lordosis, scoliosis, dislocation of the hips). Histologic anomalies
of nerves and muscles exist.
Airway management may be difficult
because of the facial features. Spontaneous ventilation should be maintained
until the airway has been secured. Careful intraoperative positioning is
needed to prevent dislocations and pressure sores. Regional anesthesia is
not contraindicated per se but should be expected to be difficult to perform
secondary to vertebral deformities. Spinocerebellar degeneration likely
precludes most anesthetists from giving a central neuraxial blockade.
Because of upper motor neuron involvement, hyperkalemia can result from
succinylcholine, so succinylcholine should be avoided. Perioperative eye
protection should include ointment and tape to keep the eyes shut.
Der Kaloustian VM, Jarudi NI, Khoury MJ, et al: Familial spinocerebellar
degeneration with corneal dystrophy. Am J Med Genet 20:325, 1985.