Novel mutation in the mitochondrial transfer RNACys gene in a child with vomiting and migraine

We report an 11-year-old female with vomiting episodes and migraine. The patient, a full-term infant, presented with epilepsy in the neonatal period that resolved with valproate treatment (EEG was normal); at 18 months of life she developed paroxysmal torticollis episodes and at the age of 4 years she begun with vomiting episodes (mainly during sleep) and migraine. Her psychomotor developmental milestones were within the normal range. Metabolic investigations were normal except for the presence of Krebs cycle metabolites in urinary organic acid profile. The mother is clinically normal. The maternal relatives show clinical alterations, one of her sisters is deaf-mute, the other presents with hypotonia and developmental delay, and the brother (deceased at the age of three months) presented with severe developmental delay