A Case of Childhood Onset of Extended Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis Phenotype with Pathogenic Polymerase Gamma Variation
Background: Ataxia neuropathy spectrum, including sensory ataxia neuropathy, dysarthria, and ophthalmoparesis (SANDO), is a part of polymerase gamma (POLG) gene-related disorder, a heterogeneous group of mitochondrial disorders. Childhood onset of the SANDO phenotype is rare, and we describe such a...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Indian Pediatrics Case Reports |
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| Online Access: | http://www.ipcares.org/article.asp?issn=2772-5170;year=2023;volume=3;issue=2;spage=86;epage=89;aulast=Shah |
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| author | Ami Shah Shilpa Kulkarni Snehal Mallakmir Rashid Merchant |
| author_facet | Ami Shah Shilpa Kulkarni Snehal Mallakmir Rashid Merchant |
| author_sort | Ami Shah |
| collection | DOAJ |
| description | Background: Ataxia neuropathy spectrum, including sensory ataxia neuropathy, dysarthria, and ophthalmoparesis (SANDO), is a part of polymerase gamma (POLG) gene-related disorder, a heterogeneous group of mitochondrial disorders. Childhood onset of the SANDO phenotype is rare, and we describe such a case here, probably the first from India. Clinical Description: A 17-year-old girl presented with progressive gait abnormality since 5 years of age, later associated with ptosis and seizures. On examination, she had atrophy of distal small muscles and absent tendon reflexes in addition to ataxia and ptosis. Differentials for a neurodegenerative disorder with cognitive sparing and ophthalmoplegia were suspected. Management: Investigations revealed a mild elevation in serum lactate, transaminases, and creatine phosphokinase, with abnormal neurophysiology showing primary muscle disease with symmetrical sensorimotor polyneuropathy, and a normal neuroimaging. Gene sequencing analysis for the mitochondrial disorder was done, which revealed a pathogenic variation in the POLG gene. The child was kept on supportive management, including antiepileptics. Conclusion: This case shows that the SANDO phenotype of POLG-related disorders, classically seen in adults, may rarely be seen in children. Our case highlights the fact that although many of the progressive neurodegenerative disorders have a nonspecific clinical presentation, biomarkers, and neurophysiologic abnormalities, a few important phenotypic clues and awareness of POLG-related disorders may enable a pediatrician to order focused genetic testing to delineate the etiology. |
| first_indexed | 2024-04-24T19:25:41Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 2772-5170 2772-5189 |
| language | English |
| last_indexed | 2024-04-24T19:25:41Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Pediatrics Case Reports |
| spelling | doaj.art-be64faa22d534dc9b2a650039faa80442024-03-25T15:39:37ZengWolters Kluwer Medknow PublicationsIndian Pediatrics Case Reports2772-51702772-51892023-01-0132868910.4103/ipcares.ipcares_2_23A Case of Childhood Onset of Extended Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis Phenotype with Pathogenic Polymerase Gamma VariationAmi ShahShilpa KulkarniSnehal MallakmirRashid MerchantBackground: Ataxia neuropathy spectrum, including sensory ataxia neuropathy, dysarthria, and ophthalmoparesis (SANDO), is a part of polymerase gamma (POLG) gene-related disorder, a heterogeneous group of mitochondrial disorders. Childhood onset of the SANDO phenotype is rare, and we describe such a case here, probably the first from India. Clinical Description: A 17-year-old girl presented with progressive gait abnormality since 5 years of age, later associated with ptosis and seizures. On examination, she had atrophy of distal small muscles and absent tendon reflexes in addition to ataxia and ptosis. Differentials for a neurodegenerative disorder with cognitive sparing and ophthalmoplegia were suspected. Management: Investigations revealed a mild elevation in serum lactate, transaminases, and creatine phosphokinase, with abnormal neurophysiology showing primary muscle disease with symmetrical sensorimotor polyneuropathy, and a normal neuroimaging. Gene sequencing analysis for the mitochondrial disorder was done, which revealed a pathogenic variation in the POLG gene. The child was kept on supportive management, including antiepileptics. Conclusion: This case shows that the SANDO phenotype of POLG-related disorders, classically seen in adults, may rarely be seen in children. Our case highlights the fact that although many of the progressive neurodegenerative disorders have a nonspecific clinical presentation, biomarkers, and neurophysiologic abnormalities, a few important phenotypic clues and awareness of POLG-related disorders may enable a pediatrician to order focused genetic testing to delineate the etiology.http://www.ipcares.org/article.asp?issn=2772-5170;year=2023;volume=3;issue=2;spage=86;epage=89;aulast=Shahataxiachildrengaitmitochondrial disorderophthalmoparesis |
| spellingShingle | Ami Shah Shilpa Kulkarni Snehal Mallakmir Rashid Merchant A Case of Childhood Onset of Extended Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis Phenotype with Pathogenic Polymerase Gamma Variation Indian Pediatrics Case Reports ataxia children gait mitochondrial disorder ophthalmoparesis |
| title | A Case of Childhood Onset of Extended Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis Phenotype with Pathogenic Polymerase Gamma Variation |
| title_full | A Case of Childhood Onset of Extended Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis Phenotype with Pathogenic Polymerase Gamma Variation |
| title_fullStr | A Case of Childhood Onset of Extended Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis Phenotype with Pathogenic Polymerase Gamma Variation |
| title_full_unstemmed | A Case of Childhood Onset of Extended Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis Phenotype with Pathogenic Polymerase Gamma Variation |
| title_short | A Case of Childhood Onset of Extended Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis Phenotype with Pathogenic Polymerase Gamma Variation |
| title_sort | case of childhood onset of extended sensory ataxic neuropathy dysarthria and ophthalmoparesis phenotype with pathogenic polymerase gamma variation |
| topic | ataxia children gait mitochondrial disorder ophthalmoparesis |
| url | http://www.ipcares.org/article.asp?issn=2772-5170;year=2023;volume=3;issue=2;spage=86;epage=89;aulast=Shah |
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