A case of congenital axonal neuropathy associated with West syndrome

We report the case of an 11-month-old girl with congenital axonal neuropathy and West syndrome. She had generalized hypotonia and an abnormal posture since birth, and apparently, her development was stalled. Deep tendon reflexes were absent, and at 5 months of age, she developed West syndrome followed by refractory seizures. Magnetic resonance imaging of the brain revealed mild cerebral and cerebellar atrophy, high-signal-intensity areas in the white matter, and hypoplasia of the corpus callosum. No action potentials were detected in both lower and upper extremities in motor and sensory conduction velocity analysis performed at 11 months of age. Sural nerve biopsy was performed, and analysis of the biopsied specimen revealed axonal degeneration. Originally designed resequencing analysis using microarray was carried out for the 27 genes associated with Charcot-Marie-Tooth disease, but no disease-causing mutations were identified. So far, there have been no reports on simultaneous development of congenital axonal neuropathy and West syndrome.