Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations

Anna Rosati, Beatrice Berti, Federico Melani, Elena Cellini, Elena Procopio, Renzo Guerrini

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)777-779
Number of pages3
JournalDevelopmental Medicine and Child Neurology
Volume57
Issue number8
DOIs
Publication statusPublished - Aug 1 2015

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Chorea
Syncope
Mutation
Genes
Cataplexy
Unconsciousness
Dyskinesias
Movement Disorders
Levodopa
Psychiatry
Epilepsy
Extremities
Wounds and Injuries
Therapeutics

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Medicine(all)

Cite this

Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations. / Rosati, Anna; Berti, Beatrice; Melani, Federico; Cellini, Elena; Procopio, Elena; Guerrini, Renzo.

In: Developmental Medicine and Child Neurology, Vol. 57, No. 8, 01.08.2015, p. 777-779.

Research output: Contribution to journalArticle

Rosati, Anna ; Berti, Beatrice ; Melani, Federico ; Cellini, Elena ; Procopio, Elena ; Guerrini, Renzo. / Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations. In: Developmental Medicine and Child Neurology. 2015 ; Vol. 57, No. 8. pp. 777-779.
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