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Isolated Vitamin E Deficiency Mimicking Distal Hereditary Motor Neuropathy in a 13-Year-Old Boy

Pediatric Neurology Unit, Arcispedale Santa Maria Nuova, Reggio Emilia, fusco.carlo{at}asmn.re.it

Daniele Frattini, MD

Pediatric Neurology Unit, Arcispedale Santa Maria Nuova, Reggio Emilia

Francesco Pisani, MD

Department of Pediatrics, Unit of Child Neuropsychiatry, University of Parma, Parma

Cinzia Gellera, PhD

Division of Biochemistry and Genetics, National Neurologic Institute, "Carlo Besta," Milan Italy

Elvio Della Giustina, MD

Pediatric Neurology Unit, Arcispedale Santa Maria Nuova, Reggio Emilia

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 -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 -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.

Key Words: AVED • vitamin E

Journal of Child Neurology, Vol. 23, No. 11, 1328-1330 (2008)
DOI: 10.1177/0883073808318058


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