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An inherited syndrome combining ataxia, corneal dystrophy, and orthopedic anomalies.

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Der Kaloustian Jarudi Khoury Syndrome; Spinocerebellar Degeneration and Corneal Dystrophy; Corneal-Cerebellar Syndrome; Corneal Dystrophy with Spinocerebellar Degeneration.

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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.

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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.

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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.

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