title: Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations.
abstract: Drop attacks are sudden, spontaneous falls without loss of consciousness, followed by rapid recovery. Causes in children include severe epilepsies, movement disorders, cataplexy, and psychiatric disorders. We describe two children (a 3-year-old female and a 12-year-old male) with mild neuromotor delay and sudden falls appearing upon starting to walk. Extensive clinical and laboratory investigation was unremarkable. Twenty to 22 months after the onset of falls, both children developed subtle choreiform movements, affecting all four limbs, leading to frequent falls, at times causing traumatic injury. A heterozygous mutation of the TITF1/NKX2-1 gene (14q13) was detected in both patients, allowing the diagnosis of benign hereditary chorea (BHC). Treatment with levodopa attenuated abnormal movements and led to disappearance of drop attacks. A diagnosis of BHC should be considered in young children with recurrent and unexplained drop attacks, especially if associated with neuromotor delay, even in the absence of choreiform movements.
authors.affiliation: Pediatric Neurology Unit, Children's Hospital A. Meyer, University of Firenze, Firenze, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Rosati
authors.affiliation: Pediatric Neurology Unit, Children's Hospital A. Meyer, University of Firenze, Firenze, Italy.
authors.forename: Beatrice
authors.initials: B
authors.lastname: Berti
authors.affiliation: Pediatric Neurology Unit, Children's Hospital A. Meyer, University of Firenze, Firenze, Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Melani
authors.affiliation: Neurogenetics Laboratory, Children's Hospital A. Meyer, University of Firenze, Firenze, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Cellini
authors.affiliation: Metabolic Unit, Children's Hospital A. Meyer, University of Firenze, Firenze, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Procopio
authors.affiliation: Pediatric Neurology Unit, Children's Hospital A. Meyer, University of Firenze, Firenze, Italy.|Neurogenetics Laboratory, Children's Hospital A. Meyer, University of Firenze, Firenze, Italy.
authors.forename: Renzo
authors.initials: R
authors.lastname: Guerrini
mesh_terms: D002648:Child; D002675:Child, Preschool; D002819:Chorea / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D012008:Recurrence; D013575:Syncope / Q000209:etiology / Q000235:genetics*; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C000614412:NKX2-1 protein, human; D009687:Nuclear Proteins; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors