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[MRI as an aid for diagnosis of infantile neuroaxonal dystrophy]
Insights
A 5-year-old girl with nystagmus and psychomotor regression was diagnosed with infantile neuroaxonal dystrophy (INAD). Brain MRI findings of increased T2 signal in the cerebellum aided in the diagnosis, highlighting MRI
Area of Science:
- Neuroscience
- Pediatric Neurology
- Radiology
Background:
- Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder.
- Diagnosis can be challenging, often requiring invasive procedures like nerve biopsy.
- Early diagnosis is crucial for potential management strategies.
Observation:
- A 5-year-old girl presented with nystagmus and psychomotor regression since age 1.
- Initial investigations including lysosomal enzyme assays and muscle biopsy were inconclusive.
- Brain MRI revealed characteristic increased T2 signal in the bilateral cerebellar hemispheres.
Findings:
- The observed MRI pattern is increasingly recognized as typical for INAD.
- A subsequent peripheral nerve biopsy confirmed the diagnosis of INAD.
- This case underscores the diagnostic utility of neuroimaging in INAD.
Implications:
- Brain MRI can serve as a valuable, non-invasive tool in diagnosing INAD.
- Identifying typical MRI features can expedite diagnosis and potentially improve patient outcomes.
- Further research into neuroimaging biomarkers for INAD is warranted.
Abstract:
We experienced a 5-year-old girl, who had presented with nystagmus and psychomotor regression since 1 year old. No clinical diagnosis had been made despite various examinations including lysosomal enzymes and muscle biopsy. Her brain magnetic resonance imaging (MRI) revealed increased a T2 signal in bilateral cerebellar hemisphere. Recently this MRI finding was reported as a typical feature of infantile neuroaxonal dystrophy (INAD). Then we performed the second biopsy from her peripheral nerve, and diagnosed her as having INAD. It was suggested that MRI was a useful aid for the diagnosis of INAD.