Isolated vitamin E deficiency mimicking distal hereditary motor neuropathy in a

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J Child Neurol. 2008 Nov;23(11):1328-30.

Isolated vitamin E deficiency mimicking distal hereditary motor

neuropathy in a 13-year-old boy.

Fusco C, Frattini D, Pisani F, Gellera C, Della Giustina E.

Pediatric Neurology Unit, Arcispedale Santa Nuova, Reggio

Emilia, Italy.

We report an atypical neurophysiologic pattern of isolated vitamin E

deficiency in a 13-year-old boy. Electroneurography-

electromyography, somatosensory evoked potentials, serum vitamin E

concentration and genetic analysis of the alpha-tocopherol transfer

protein gene were performed.

Nerve conduction study failed to show peripheral neuropathy whereas

needle electromyography of distal muscles demonstrated chronic

neurogenic motor unit potentials. Both clinical and neurophysiologic

data fulfilled the criteria of distal hereditary motor neuropathy.

Later on, somatosensory-evoked potential displayed absence of spinal

and central response. The serum vitamin E level was low, and the

patient was found to be homozygous for a 513insTT mutation in exon 3

of the alpha-tocopherol transfer protein gene.

To our knowledge this is the first case of isolated deficiency of

vitamin E that presents the classic neurophysiologic and clinical

features of distal hereditary motor neuropathy.