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At a glance

Genetic disorder with congenital deafness and progressive visual loss.

Incidence

The exact incidence remains unknown as only few cases have been reported in the literature.

Genetic inheritance

It is inherited as autosomal dominant.

Clinical aspects

Hearing loss is sensorineural and severe at birth. Although many patients do not develop any speech, some still have residual hearing in the lower frequencies, allowing amplification and development of speech if treated in early childhood. Bilateral optic nerve atrophy begins at an early age but is very slowly progressive, with visual loss noticeable by the patient by age 24 to 30 years. This syndrome has no other associated findings.

Anesthetic considerations

In the presence of hearing loss without significant visual loss, optimize communication by remaining in the visual field of the patient. Writing and drawing, when appropriate, are useful tools. When sign language is used, a qualified translator available preoperatively and postoperatively is an ideal helper. If the patient uses an amplifying hearing device, keeping it available during induction and emergence of anesthesia helps to reduce anxiety.

Other conditions to be considered

  • Sylvester Syndrome: Autosomal dominant inherited form of Friedreich ataxia described in 6 of 9 children from the same family. It is characterized by combined findings of Friedreich ataxia with optic atrophy and progressive sensorineural hearing loss.

  • Nyssen-van Bogaert Syndrome: Rare genetic disorder with blindness, deafness, developmental delay, and spasticity.

  • Alström Syndrome: Inherited syndrome with progressive visual and hearing loss, diabetes mellitus, and cardiac, hepatic, and renal involvement.

  • Cockayne Syndrome: Autosomal-recessive inherited disease characterized by dwarfism, precociously senile appearance, pigmentary retinal degeneration, optic atrophy, progressive sensorineural deafness, sensitivity to sunlight, and mental retardation. Disproportionately long limbs with large hands and feet and flexion contractures of joints are usual skeletal features.

  • Ballinger-Wallace Syndrome: Maternally transmitted diabetes mellitus, neurosensory deafness, and ophthalmic abnormalities.

  • Wolfram Syndrome: Genetic syndrome sometimes referred to as DIDMOAD, an acronym that stands for Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness.

  • Rogers Syndrome: Rare syndrome caused by a defect in a transporter of thiamine, which results in anemia, diabetes, puffiness, and deafness. Situs inversus viscerum totalis is characteristic.

  • CAPOS Syndrome: Congenital Neurologic Syndrome with presentation in infancy. CAPOS is an acronym that stands for Cerebella ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss.

  • Rosenberg-Chutorian Syndrome: Inherited neurodegenerative disorder with polyneuropathy, optic atrophy, and deafness. The clinical features resemble those of Charcot-Marie-Tooth disease plus the presence of deafness.

  • Usher Syndrome: Autosomal recessive disease associated with retinitis pigmentosa and sensorineural deafness.

  • Refsum Disease: Syndrome caused by accumulation of nicotinic acid that leads to polyneuropathy, cutaneous ichthyosis, cardiac failure, deafness, and visual anomalies.

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