Giant axonal neuropathy is a rare autosomal recessive disorder commonly characterized by chronic, progressive dysfunction in the peripheral nervous system. Lesions also can occur in the central nervous system, especially in the brainstem and cerebellum. We present cranial magnetic resonance imaging and magnetic resonance spectroscopy findings in a 5-year-old Turkish girl with giant axonal neuropathy. This study is the second to describe involvement of the globus pallidus on T2-weighted imaging in giant axonal neuropathy. Magnetic resonance spectroscopy of cerebellar white matter lesions and globus pallidus revealed metabolic changes, including increased choline/creatine ratios, increased lactate, and reduced N-acetyl aspartate/creatine ratios. Thus, magnetic resonance spectroscopy did not produce findings specific to giant axonal neuropathy, but indicated progressive neuronal loss, demyelination, and gliosis in the cerebellar white matter.
|Number of pages||3|
|Publication status||Published - Nov 2012|
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience