Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient.
We describe a young patient affected by vitamin E deficiency with mutation in the tocopherol transfer protein alleles and the unique presentation as myoclonic dystonia, which was practically the only symptom for 6 years before ataxia became evident. Vitamin E supplementation markedly improved both symptoms. This unusual clinical phenotype must be considered, because isolated vitamin E deficiency is eminently treatable.
Department of Neuropediatrics, National Neurological Institute C. Besta, Milan, Italy.
Lucia
L
Angelini
Anna
A
Erba
Caterina
C
Mariotti
Cinzia
C
Gellera
Claudia
C
Ciano
Nardo
N
Nardocci
D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics; D020821:Dystonic Disorders / Q000175:diagnosis*; D004576:Electromyography; D006801:Humans; D008297:Male; D009207:Myoclonus / Q000175:diagnosis*; D016896:Treatment Outcome; D014811:Vitamin E Deficiency / Q000175:diagnosis* / Q000235:genetics
D002352:Carrier Proteins; C017763:alpha-tocopherol transfer protein