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Aim: Benign paroxysmal torticollis (BPT), benign paroxysmal vertigo (BPV), and benign tonic upward gaze (BTU) are characterized by transient and recurrent episodes of neurological manifestations. The purpose of this study was to analyse the clinical relationships between these syndromes, associated comorbidities, and genetic bases., Method: In this cross-sectional study, clinical data of patients with BPT, BPV, or BTU were collected with a focus on developmental achievements, learning abilities, and rehabilitation. Neuropsychological assessment and genetic testing were performed., Results: Fifty patients (median age at inclusion 6y) were enrolled. Psychomotor delay, abnormal neurological examination, and low or borderline IQ were found in 19%, 32%, and 26% of the patients respectively. Cognitive dysfunction was present in 27% of the patients. CACNA1A gene mutation was identified in eight families, and KCNA1 and FGF14 mutation in one family respectively. The identification of a CACNA1A mutation was significantly associated with BTU (p=0.03) and with cognitive dysfunction (p=0.01). Patients with BPV were less likely to have cognitive dysfunction., Interpretation: Children with BPT, BPV, or BTU are at high risk of impaired psychomotor and cognitive development. These syndromes should not be regarded as benign and should be considered as part of the spectrum of a neurodevelopmental disorder., What This Paper Adds Ok: Patients with benign paroxysmal torticollis (BPT), benign paroxysmal vertigo (BPV), and benign tonic upward gaze (BTU) have an increased risk of psychomotor delay. These patients also have an increased risk of abnormal neurological examination and cognitive dysfunction. Gene mutations, especially in CACNA1A, were identified in 21% of the families. BPT, BTU, and BPV should not be regarded as benign. BPT, BTU, and BPV should be considered as part of the spectrum of a neurodevelopmental disorder., (© 2018 Mac Keith Press.)

Introduction: Benign paroxysmal vertigo (BPV) is characterized by recurrent attacks of dizziness in a healthy child. Complete recovery typically takes place during childhood, and an epidemiological link with migraine has been pointed out. Nevertheless, data concerning long-term patient outcome are scarce., Subjects and Methods: We analyzed the clinical data of 17 patients diagnosed with BPV between 1991 and 2008 in our neuropediatric department; we particularly focused on family medical history and long-term patient outcome by reviewing their medical files and by interviewing the families with a standardized questionnaire administered by phone., Results: Thirteen families responded to the questionnaire, performed 1.1 to 24.5 years after onset. Among 10 patients older than 11 years of age, five continue to suffer attacks of vertigo. Median age at recovery was six years. Nine subjects exhibited migraine, including all six aged 15 years or older. There was a first-degree history of migraine in eight out of 13 children., Conclusion: BPV may not be a homogeneous condition, as some children have a poorer prognosis than others. The strong link with migraine, already noticed by previous authors, led us to discuss the pathophysiology of this condition.