(mentions CMT) A case of congenital axonal neuropathy associated with West syndr

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Brain Dev. 2011 Jan 4

A case of congenital axonal neuropathy associated with West syndrome.

Mizuno T, Sasaki M, Komaki H, Sakuma H, Saito Y, Nakagawa E, Sugai K, Saito Y,

Nonaka I, Sawaishi Y.

Department of Child Neurology, National Center Hospital, National Center of

Neurology and Psychiatry (NCNP), Tokyo, Japan.

Abstract

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

11months 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.