| CASE REPORT |
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| Year : 2023 | Volume
: 3
| Issue : 2 | Page : 86-89 |
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A Case of Childhood Onset of Extended Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis Phenotype with Pathogenic Polymerase Gamma Variation
Ami Shah, Shilpa Kulkarni, Snehal Mallakmir, Rashid Merchant
Department of Pediatrics, Nanavati Super Specialty Hospital, Mumbai, Maharashtra, India
Correspondence Address:
Dr. Ami Shah
Department of Pediatrics, Nanavati Super Specialty Hospital, Vile Parle West, Mumbai - 400 056, Maharashtra
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/ipcares.ipcares_2_23
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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. |
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