Giant Axonal Neuropathy in a Child with Stop-Gain Variant in GAN Gene
Background: Giant axonal neuropathy (GAN) type 1 is a rare autosomal recessive, progressive neuro-degenerative disorder, caused by biallelic variants in Gigaxonin (GAN) gene. Clinical Description: An 11-year-old boy born out of consanguineous marriage presented with features of regression of milesto...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2025-01-01
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| Series: | Indian Pediatrics Case Reports |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/ipcares.ipcares_241_24 |
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| Summary: | Background:
Giant axonal neuropathy (GAN) type 1 is a rare autosomal recessive, progressive neuro-degenerative disorder, caused by biallelic variants in Gigaxonin (GAN) gene.
Clinical Description:
An 11-year-old boy born out of consanguineous marriage presented with features of regression of milestones, initially motor, followed by cognitive and speech abnormality, associated with seizures and hearing impairment progressing over past 2–3 years. On examination, he had kinky hair, nystagmus, with diffuse muscle atrophy, absent tendon reflexes, positive cerebellar signs as well as impairment of higher mental functions.
Management and Outcome:
Laboratory investigations were largely normal, with magnetic resonance imaging showing features of diffuse white matter abnormality with signal changes noted in the dentate nuclei. Exome sequencing identified a homozygous likely pathogenic stop-gain variant in GAN gene. Parents were counselled and child was provided supportive care.
Conclusion:
The case creates awareness among pediatricians regarding the rare disorder of GAN. A thorough neurological assessment with careful physical examination along with a knowledge of this disorder will help in making an early diagnosis. |
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| ISSN: | 2772-5170 2772-5189 |