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Article

Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report.

BMC medical genomics - 6 Nov 2023

Munson Hannah E, De Simone Lenika, Schwaede Abigail, Bhatia Avanti, Mithal Divakar S, Young Nancy, Kuntz Nancy, Rao Vamshi K

Abstract excerpt

BACKGROUND: Perrault Syndrome (PRLTS) is a rare, autosomal recessive disorder that presents with bilateral sensorineural hearing loss in all patients and gonadal dysfunction in females. It has been linked to variants in CLPP, ERAL1, HARS2, HSD17B4, LARS2, and TWNK genes. All reported cases due to TWNK variants have included neurologic features, such as ataxia and axonal sensorimotor neuropathy. CASE PRESENTATION:...

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Identifiers

PMID: 37932750
DOI: 10.1186/s12920-023-01599-4
PMCID: PMC10626675

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