Objective: A case of adult-onset ataxia with multiple neurologic deficits and ovarian dysgenesis was genetically diagnosed as Perrault syndrome 5 for the first time in Korea.

Background: Perrault syndrome 5 is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing loss and ovarian dysgenesis in females with the diversity of neurologic deficits due to variants of the twinkle mtDNA helicase (TWNK) gene. Since neurologic deficits develop gradually, often mistaken for other diagnoses during young age. Herein, we report a case of genetically diagnosed Perrault syndrome 5.

Method: A 24-year-old woman presented with progressive gait disturbance for years. She was diagnosed with primary amenorrhea at the gynecologist. She has been mentally retarded since the age of six and has been deaf since then. Neurologic examination revealed motor weakness on both lower limbs, diminished deep tendon reflexes, gaze evoked nystagmus and truncal ataxia.

Results: Brain MRI showed mild cerebellar atrophy that progressed 1 year follow up. Nerve conduction study showed sensorimotor polyneuropathy on both limbs. Multiple neurologic deficit with primary amenorrhea and deafness suggesting the Perrault syndrome. Bioinformatic analysis revealed known pathogenic homozygote variant on TWNK gene, c.1306G>A(p.Gly436Arg). Her symptom of agitation and anxiety was well controlled by escitalopram administration.

Conclusion: This study demonstrates neurologic milestone of TWNK gene mutation. Early intellectual disability, gait disturbance associated with peripheral neuropathy, and cerebellar ataxia appeared in adulthood and cerebellar atrophy. Up to our knowledge this is the first case of multiple neurologic features of Perrault syndrome 5 in Korea.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/a-patient-with-childhood-onset-hearing-loss-and-adult-onset-ataxia-was-genetically-diagnosed-with-perrault-syndrome-5/