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.