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At a glance

A heterogenous genetic disorder leading to congenital sensorineural deafness with primary amenorrhea due to ovarian dysgenesis. Right bundle branch block and mental retardation are also features.

Synonyms

XX-Type Gonadal Dysgenesis with Deafness; Ovarian Dysgenesis with Sensorineural Deafness.

History

First described by M. Perrault in 1951.

Incidence

Very rare; only fewer than 50 patients have been described in the literature. However, it has been suggested that this medical entity might not be so uncommon and most cases are not diagnosed.

Genetic inheritance

Autosomal recessive with gonadal dysgenesis and neurosensory hearing loss in females but only isolated neurosensory hearing loss in males.

Pathophysiology

Compound heterozygous mutations are implicated in this syndrome and include HARS2, HSD17B4, CLPP, C10orf2, and LARS2. Neurological symptoms other than hearing loss may be caused by mutations in LARS2 on 3p21 and are classified as Type 2.

Clinical aspects

Female patient with gonadal dysgenesis and severe neurosensory hearing loss. There may be developmental delay, with the hearing loss diagnosed during the toddler years. Cognitive function may be impaired. Progressive nervous system involvement has been observed. It includes severe sensory and motor neuropathy. Abnormal neurologic findings and signs of cerebellar dysfunction are common (ataxia, hypotonia, abnormal extraocular muscle movement, and chorea). Touch and proprioception are normal. Secondary sexual development does not occur in females and primary amenorrhea may be a presenting complaint. In conjunction with gonadal dysgenesis and deafness, there have been additional reports of patients having short stature, nystagmus, limited extraocular movement, and pes equinovarus.

Precautions before anesthesia

Document neurological abnormalities and assess adequacy of respiratory muscle function. Obtain an ECG to eliminate the presence of a right bundle branch block. Preoperative sedation is contraindicated in case of preexisting hypotonia.

Anesthetic considerations

There are no previous reports of anesthesia in this group of patients. However, special considerations must be given to the neurological dysfunction and the presence of right bundle branch block.

Pharmacological implications

The choice of muscle relaxant should take into account the preexisting hypotonia. Special attention to anesthetic medication with negative inotropic effects.

References

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Fiumara  A, Sorge  G, Toscano  A,  et al: Perrault syndrome: Evidence of progressive nervous system involvement. Am J Med Genet 128:246, 2004.
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Gottschalk  ME, Coker  SB, Fox  LA: Neurologic anomalies of Perrault syndrome. Am J Med Genet 65(4):274, 1996.  [PubMed: 8923934]
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Kosaki  R, Horikawa  R, Fujii  E, Kosaki  K: Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms. Am J Med Genet A 176:404, 2008.
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Nishi  Y, Hamamoto  K, Kajiyama ...

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