Benign paroxysmal torticollis of infancy does not lead to neurological sequelae

Danielsson, Annika; Anderlid, Britt‐Marie; Stödberg, Tommy; Lagerstedt‐Robinson, Kristina; Arrhenius, Eva Klackenberg; Tedroff, Kristina

doi:10.1111/dmcn.13939

Cited by 20 publications

(30 citation statements)

References 22 publications

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“…Therefore, CACNA1A and AnkB have a significant role in health or disease and neuronal function [26]. Patients with BPT of infancy have shown positive family history with various clinical presentations, such as FHM without the symptom of BPT [9,[27][28][29]. Besides, patients with intention tremor or head tremor, as a sign of cerebellar dysfunction, have shown positive family history in other neurological problems, such as ataxia or epileptic seizure and migraine in their family [30,31], meaning that these rare clinical features are not separated.…”

Section: Discussionmentioning

confidence: 99%

Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients

Alehabib

Esmaeilizadeh

Ranji-Burachaloo

et al. 2021

Orphanet J Rare Dis

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Background Epilepsy is a neurological disorder characterized by the potential to induce seizure and accompanied by cognitive, psychological, and social consequences. CACNA1A gene is a voltage-gated P/Q-type Cav2.1 channel that is broadly expressed in the central nervous system, and the pathogenic variants within this gene may be associated with the epileptic phenotype. In the present study, we collected clinical and molecular data related to epileptic patients with CACNA1A pathogenic variants and investigated possible meaningful relationship between age at onset, neurodevelopmental disorders, type of seizures, brain imaging abnormalities, genotype, and protein domains. Results In our retrospective literature studies, from among 890 articles reviewed, a total of 90 individuals were related to epilepsy phenotype. Our findings showed that about 90 percent of patients have shown the first symptoms in childhood and teenage years and different types of neurodevelopmental disorders, such as intellectual disability, developmental arrest, and behavioral disorders, have been common findings for these patients. Further, a wide range of abnormalities have been observed in their brain imaging, and generalized seizures have been the most type of seizures in these patients. However, our data showed no specific genotype–phenotype correlation in epileptic patients with CACNA1A pathogenic alterations. Conclusions Our study focused on epileptic phenotype in patients with CACNA1A pathogenic variants and showed a wide range of clinical and molecular heterogeneity with no specific genotype–phenotype correlation. It seems that incomplete penetrance, de-novo variants, and modifier genes are obstacles in predicting the clinical outcome.

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Section: Discussionmentioning

confidence: 99%

Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients

Alehabib

Esmaeilizadeh

Ranji-Burachaloo

et al. 2021

Orphanet J Rare Dis

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“…Although the exact cause is unknown, it sometimes progresses to dizziness, headache and ataxia, suggesting a link to channelopathy or migraine. [67][68][69]…”

Section: Paroxysmal Torticollismentioning

confidence: 99%

Is it really a seizure? The challenge of paroxysmal nonepileptic events in young infants

Jung

Kang

2021

Clin Exp Pediatr

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“…It is thought that BPTI may be included in channelopathy-related genetic syndromes which include familial hemiplegic migraine, paroxysmal upgaze and episodic ataxia [9]. These seem to have a common link with CACNA1A mutations which may influence calcium channels [2][3][4].…”

Section: Abbreviationsmentioning

confidence: 99%

“…The torticollis can be painful and there may be accompanying symptoms such as vomiting, drowsiness, irritability and ataxia. Neurological examination between episodes is normal and although there may be an association with slow development, BPTI does not appear to have long term sequelae [2]. BPTI is of unknown aetiology but has many features suggestive of a channelopathy.…”

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confidence: 98%

Benign Paroxysmal Torticollis of Infancy: Has it Outgrown its Definition?

Sanchez-Thompson¹,

Eckersley²,

Cohn³

2019

Act Scie Paedia

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Benign Paroxysmal Torticollis of Infancy (BPTI) is considered a migraine variant and a precursor of other migraine symptoms. It is classified as a condition that starts before one year of age with symptoms resolving by the age of five. We describe two unrelated children over the age of five who presented with features of BPTI. We would propose that the definition of the condition is therefore extended beyond infancy, and it is possible, if not likely, given the rarity and obscurity of the condition, that it may be overlooked in children of all ages.Benign Paroxysmal Torticollis of Infancy (BPTI) is a well described if not well recognized [1] condition characterised by episodes of torticollis which occur spontaneously and last between half an hour and a few days, before complete spontaneous resolution. The torticollis can be painful and there may be accompanying symptoms such as vomiting, drowsiness, irritability and ataxia. Neurological examination between episodes is normal and although there may be an association with slow development, BPTI does not appear to have long term sequelae [2]. BPTI is of unknown aetiology but has many features suggestive of a channelopathy. It is usually described as a migraine precursor with a possible genetic link to hemiplegic migraine [3-5], however many patients do not proceed to migraine in later life [6]. Of note, as its name implies, it has only been described in children under the age of five.We describe two children over the age of five, who presented with features of BPTI within a few months of each other to a District General Hospital in Hertfordshire UK. We would propose that the definition of the condition is therefore extended beyond infancy, and it is possible, if not likely, given the rarity and obscurity of the condition, that it may be overlooked in children of all ages.

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Benign paroxysmal torticollis of infancy does not lead to neurological sequelae

Cited by 20 publications

References 22 publications

Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients

Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients

Is it really a seizure? The challenge of paroxysmal nonepileptic events in young infants

Benign Paroxysmal Torticollis of Infancy: Has it Outgrown its Definition?

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