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Case 293
Rosmi Hassan Karuvath1, Sriram Patwari1, Harsha Chadaga1
1From the Department of Radiology, Columbia Asia Referral Hospital, 26/4 Brigade Gateway West, Beside Metro, Malleshwaram, Bangalore 560055, India.
Radiology
|April 26, 2021
Summary
A pediatric case study highlights axonal neuropathy in a child with ataxia and delayed motor development. Neuroimaging and electrodiagnostic tests aided in diagnosis.
Area of Science:
- Pediatric Neurology
- Neurophysiology
- Diagnostic Imaging
Background:
- A 6-year-old male presented with ataxia and delayed motor development.
- No family history of neurodegenerative disease was reported.
- Clinical examination revealed dysarthria, dysmetria, and hyperreflexia.
Purpose of the Study:
- To present a case of pediatric axonal neuropathy.
- To illustrate the diagnostic process including neuroimaging and electrophysiology.
- To correlate clinical findings with diagnostic test results.
Main Methods:
- Clinical assessment including neurological examination.
- Electromyography (EMG) to evaluate peripheral nerve function.
- Unenhanced Magnetic Resonance Imaging (MRI) of the brain.
Main Results:
- Electromyography (EMG) indicated a predominantly sensory axonal neuropathy.
- Neurological examination showed signs of cerebellar and motor pathway involvement.
- Brain MRI findings (Figs 1-3) were analyzed in conjunction with clinical and electrodiagnostic data.
Conclusions:
- This case underscores the importance of a comprehensive diagnostic approach for pediatric ataxia.
- Axonal neuropathy can manifest with central nervous system signs in children.
- Integrated findings from clinical, electrophysiological, and imaging studies are crucial for diagnosis.

