Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report
Abstract 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 d...
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| Format: | Article |
| Language: | English |
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BMC
2023-11-01
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| Series: | BMC Medical Genomics |
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| Online Access: | https://doi.org/10.1186/s12920-023-01599-4 |
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| author | Hannah E. Munson Lenika De Simone Abigail Schwaede Avanti Bhatia Divakar S. Mithal Nancy Young Nancy Kuntz Vamshi K. Rao |
| author_facet | Hannah E. Munson Lenika De Simone Abigail Schwaede Avanti Bhatia Divakar S. Mithal Nancy Young Nancy Kuntz Vamshi K. Rao |
| author_sort | Hannah E. Munson |
| collection | DOAJ |
| description | Abstract 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 A 4.5-year-old female presented to neuromuscular clinic due to ataxia. Neurological examination revealed truncal ataxia and steppage gait, reduced deep tendon reflexes, and axonal sensorimotor polyneuropathy. Auditory brainstem response testing revealed an uncommon type of sensorineural hearing loss known as auditory neuropathy/auditory synaptopathy (AN/AS) affecting both ears. Magnetic Resonance Imaging (MRI) revealed subtle cauda equina enhancement. Nerve conduction studies led to a provisional diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP), and intravenous immune globulin (IVIG) was initiated. The patient was unresponsive to treatment, thus whole exome testing (WES) was conducted in tandem with IVIG weaning. WES revealed a compound heterozygous state with two variants in the TWNK gene and a diagnosis of Perrault Syndrome was made. Conclusions Perrault Syndrome should be considered in the differential for children who present with bilateral sensorineural hearing loss, axonal polyneuropathy, and ataxia. Further examination includes testing for ovarian dysgenesis and known PRLTS genetic variants. |
| first_indexed | 2024-03-11T11:00:41Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 1755-8794 |
| language | English |
| last_indexed | 2024-03-11T11:00:41Z |
| publishDate | 2023-11-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj.art-eceddc381f1b47cd82e184d306904d3c2023-11-12T12:32:44ZengBMCBMC Medical Genomics1755-87942023-11-011611710.1186/s12920-023-01599-4Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case reportHannah E. Munson0Lenika De Simone1Abigail Schwaede2Avanti Bhatia3Divakar S. Mithal4Nancy Young5Nancy Kuntz6Vamshi K. Rao7Chicago College of Osteopathic Medicine, Midwestern UniversityDivision of Genetics, Birth Defects and Metabolism, Ann and Robert H. Lurie Children’s Hospital of ChicagoDivision of Neurology, Department of Pediatrics, Northwestern University Feinberg School of Medicine and the Ann and Robert H. Lurie Children’s Hospital of ChicagoDepartment of Speech-Language Pathology, Ann and Robert H. Lurie Children’s Hospital of ChicagoDivision of Neurology, Department of Pediatrics, Northwestern University Feinberg School of Medicine and the Ann and Robert H. Lurie Children’s Hospital of ChicagoStanley Manne Children’s Research InstituteDivision of Neurology, Department of Pediatrics, Northwestern University Feinberg School of Medicine and the Ann and Robert H. Lurie Children’s Hospital of ChicagoDivision of Neurology, Department of Pediatrics, Northwestern University Feinberg School of Medicine and the Ann and Robert H. Lurie Children’s Hospital of ChicagoAbstract 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 A 4.5-year-old female presented to neuromuscular clinic due to ataxia. Neurological examination revealed truncal ataxia and steppage gait, reduced deep tendon reflexes, and axonal sensorimotor polyneuropathy. Auditory brainstem response testing revealed an uncommon type of sensorineural hearing loss known as auditory neuropathy/auditory synaptopathy (AN/AS) affecting both ears. Magnetic Resonance Imaging (MRI) revealed subtle cauda equina enhancement. Nerve conduction studies led to a provisional diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP), and intravenous immune globulin (IVIG) was initiated. The patient was unresponsive to treatment, thus whole exome testing (WES) was conducted in tandem with IVIG weaning. WES revealed a compound heterozygous state with two variants in the TWNK gene and a diagnosis of Perrault Syndrome was made. Conclusions Perrault Syndrome should be considered in the differential for children who present with bilateral sensorineural hearing loss, axonal polyneuropathy, and ataxia. Further examination includes testing for ovarian dysgenesis and known PRLTS genetic variants.https://doi.org/10.1186/s12920-023-01599-4Perrault SyndromePRLTSTWNKAtaxiaAxonal polyneuropathyAuditory neuropathy/auditory synaptopathy |
| spellingShingle | Hannah E. Munson Lenika De Simone Abigail Schwaede Avanti Bhatia Divakar S. Mithal Nancy Young Nancy Kuntz Vamshi K. Rao Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report BMC Medical Genomics Perrault Syndrome PRLTS TWNK Ataxia Axonal polyneuropathy Auditory neuropathy/auditory synaptopathy |
| title | Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report |
| title_full | Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report |
| title_fullStr | Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report |
| title_full_unstemmed | Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report |
| title_short | Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report |
| title_sort | axonal polyneuropathy and ataxia in children consider perrault syndrome a case report |
| topic | Perrault Syndrome PRLTS TWNK Ataxia Axonal polyneuropathy Auditory neuropathy/auditory synaptopathy |
| url | https://doi.org/10.1186/s12920-023-01599-4 |
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