A genetic disorder leading to congenital sensorineural
deafness with ovarian dysgenesis. Right bundle branch block and mental
retardation are also features.
XX-type Gonadal Dysgenesis with Deafness; Ovarian
Dysgenesis with Sensorineural Deafness.
First described by M. Perrault in 1951.
Rare; only 11 families (28 persons) have been described
in the literature. However, it has been suggested that this medical entity
might not be so uncommon, most cases being unrecognized.
Autosomal recessive with gonadal dysgenesis
and neurosensory hearing loss in females but only isolated neurosensory
hearing loss in brothers.
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 is absent in
the 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.
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.
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
The choice of muscle relaxant should
take into account the preexisting hypotonia. Special attention to anesthetic
medication with negative inotropic effects.
Fiumara A, Sorge G, Toscano A, et al: Perrault syndrome: Evidence of progressive nervous
system involvement. Am J Med Genet 128:246, 2004.
Gottschalk ME, Coker SB, Fox LA: Neurologic anomalies of Perrault
syndrome. Am J Med Genet 65(4):274, 1996.
Nishi Y, Hamamoto K, Kajiyama M, et al: The Perrault syndrome: Clinical
report and review. Am J Med Genet 31:62, 1988.