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At a glance

A very rare neurodegenerative disorder. Clinical features include deafness, polyneuropathy, and optic atrophy. The distal muscular atrophy resembles those observed in Charcot-Marie-Tooth Disease.

Synonym

Optic Atrophy Polyneuropathy and Deafness Syndrome.

Incidence

Very rare, less than 20 patients identified.

Genetic inheritance

X-linked recessive.

Pathophysiology

Possible mutation of PRPS1 (phosphoribosyl pyrophosphate synthetase 1) which is an isoform of the PRPS gene family and is ubiquitously expressed in human tissues, including cochlea. The enzyme mediates the biochemical step critical for purine metabolism and nucleotide biosynthesis.

Clinical aspects

Diagnosis is based on clinical criteria, including a rapidly progressive polyneuropathy with distal muscular atrophy associated with blindness caused by optic nerve atrophy and neurosensorial deafness. Paraparesis is frequent.

Anesthetic considerations

Check respiratory function (clinical, chest radiographs, arterial blood gas analysis); postoperative ventilatory support may be necessary. Normal response to neuromuscular blocking agents (atracurium and mivacurium tested). Succinylcholine is best avoided considering muscle anomalies.

Other condition to be considered

  • Charcot-Marie-Tooth Disease: Characterized by muscle weakness and atrophy, most prominent in the legs and the small muscles of the hands. Patients may remain active and have a normal life span. Segmental demyelination of peripheral nervous system including the axons represents classic features of this medical condition. Symptoms usually begin gradually between middle childhood and age 30 years. The most incapacitating symptom is “foot drop,” producing a slapping gait and the associated paresthesias. A decrease in vibration, pain, and thermal sensation in the hand, foot, and lower part of the leg that manifest following a distribution pattern of glove and stocking shape. The disease is slowly progressive, but may arrest spontaneously.

References

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Antognini  JF: Anesthesia for Charcot-Marie-Tooth disease: A review of 86 cases. Can J Anaesth 39:398, 1992.  [PubMed: 1563065]
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Hirsch  NP: Respiratory insufficiency in Charcot-Marie-Tooth disease. Anesthesia 53:1034, 1998.
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Kim  HJ, Sohn  KM, Shy  ME,  et al: Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am J Hum Genet 81:552, 2007.  [PubMed: 17701900]
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Rosenberg  RN, Chutorian  A: Familial opticoacoustic nerve degeneration and polyneuropathy. Neurology 17:827, 1967.  [PubMed: 6069085]

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