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At a glance

A genetic disorder with mental retardation, cataract, deafness, and polyneuropathy.

Synonyms

Polyneuropathy Cataract Deafness Syndrome; Cataract Ataxia Deafness Retardation Syndrome.

Incidence

Has only been described in two sisters.

Genetic inheritance

Autosomal recessive inheritance was suspected.

Clinical aspects

Both described sisters were of short stature and had mild mental retardation. Both siblings had congenital cataracts. Progressive sensorineural deafness, ataxia and peripheral polyneuropathy developed in the third decade of life. Ataxia was presumably due to impaired proprioception. Bilaterally reduced motor conduction velocities in the peroneal and posterior tibial nerves, absent tendon reflexes, distal sensory disturbances, and muscular hypertonia in the legs were noted. A sural nerve biopsy revealed significant axonal atrophy.

Precautions before anesthesia

Routine preoperative assessment is recommended. Developmental delay combined with hearing loss and visual impairment may cause increased anxiety and stress in the perioperative period; thus, anxiolytic and sedative premedication and/or presence of a parent (or primary caregiver) for induction of anesthesia may be beneficial. If regional anesthesia is planned, the extent and severity of the neurological symptoms should be clearly documented preoperatively.

Anesthetic considerations

No specific anesthetic implications are expected.

Pharmacological implications

None specific to this syndrome.

Other conditions to be considered

  • ☞Reardon-Wilson-Cavanagh Syndrome (Ataxia-Deafness-Retardation Syndrome; ADR Syndrome): Extremely rare autosomal recessive inherited disorder characterized by mild mental retardation, progressive sensorineural hearing loss, infantile onset of progressive spinocerebellar ataxia with signs of upper and lower motor neuron disease. In contrast to Begeer Syndrome, hearing loss already starts in infancy and there is no association with congenital cataract.

  • ☞Richards-Rundle Syndrome (Ketoaciduria Mental Deficiency with Ataxia and Deafness Syndrome): Auto­somal recessive inherited syndrome with mental retardation, ataxia, and deafness. Ketoaciduria is present and various neurological and muscular anomalies (peripheral muscle wasting) can be observed.

References

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Begeer  JH, Scholte  FA, van Essen  AJ: Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy. J Med Genet 28:884, 1991.  [PubMed: 1661780]
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Berman  W, Haslan  RHA, Koningsmark  BW,  et al: A new familial syndrome with ataxia, hearing loss, and mental retardation. Arch Neurol[Archives of Neurology Full Text] 29:258–261, 1973.  [PubMed: 4728186]
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Koletzko  S, Koletzko  B, Lamprecht  A, Lenard  HG: Ataxia-deafness-retardation syndrome in three sisters. Neuropediatrics 18:18–21, 1987.  [PubMed: 3470627]

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