Giant Axonal Neuropathy: A Case Report of Subclinical Childhood Manifestations.
Cureus
; 16(2): e54368, 2024 Feb.
Article
em En
| MEDLINE
| ID: mdl-38500911
ABSTRACT
Giant axonal neuropathy (GAN) is a rare, inherited neurodegenerative disease that affects both the central and peripheral nervous systems. It is mostly characterized by a progressive loss of motor and sensory function, which can begin in early childhood. GAN is thought to be caused by a mutation in the GAN gene on chromosome 16q24.1. We report a seven-year-old Saudi male child with GAN who was diagnosed using whole-exome sequencing. The child presented with a history of progressive weakness and muscle wasting in the arms and legs as well as difficulty walking. The sequencing identified a mutation in the GAN gene (NM_022041.3 c.1456G>A). Electrodiagnostic studies showed evidence of diffuse axonal motor and sensory polyneuropathy involving cranial nerves. This case report adds to the growing evidence that whole-exome sequencing can be a useful tool for diagnosing rare inherited neuromuscular disorders. It also highlights the importance of early diagnosis and intervention for this condition.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article