Benign Paroxysmal Torticollis Research Articles

Benign paroxysmal torticollis in infancy – diagnostic error possibility

Background/Aim. Benign paroxysmal torticollis (BPT) is a rare paroxysmal dyskinesia characterized by attacks of head tilt alone or tilt accompanied by vomiting and ataxia, which may last hours to days. It is claimed that BPT disappears completely in childhood, but that it can evolve into other conditions, such as benign paroxysmal vertigo, cyclical vomiting syndrome, abdominal migraine, hemiplegic migraine, motion sickness and/or migraine with aura. The aim of this manuscript was to renew focus on benign paroxysmal torticollis because the disorder is almost always under-recognized by pediatric practitioners, who often order extensive and unrewarding testing and physiotherapy treatment. Methods. Twelve BPT cases observed during a 5-year period (2009?2014) at the Clinical Centre Nis, Nis, Serbia were reviewed. Data were collected on the features of torticollis, the age of onset, the duration of episodes, associated symptoms, the frequency of episodes, the persistence of symptoms over time, the age when the disorder finally disappeared, sequelae appearing after the 5th birthday, and family history of BPT, migraine or kinetosis. All the children were followed for periods ranging from 48 to 72 months. Results. The series included 6 females and 6 males. The age at onset of BPT was less than 8 months in 84% of the cases. Episodes of torticollis occurred suddenly on waking in all the cases without any trigger factors. The duration of torticollis ranged from a few hours to a few weeks. In 58% of cases, the condition persisted for more than one week. The frequency of the episodes ranged from once every 3 days to once every 25 days. The episodes were more frequent and lasted longer in the early months and tended to cease as the child became older. The age when episodes ended ranged from 11 months to 62 months. In 11 (91.66%) cases, the disorder disappeared before the patient's 5th birthday. No patient had a family history of BPT. In 6 cases, family members had kinetosis. In 5 cases, family members were positive for both migraine and kinetosis. All the children had normal motor development and normal speech and language development. After the disappearance of BPT, two children developed other forms of periodic syndromes: one boy had migraine with aura, and one girl experienced cyclic vomiting. Conclusion. BPT is probably an age-sensitive and migraine-related disorder that is benign in nature. The disorder is often misinterpreted, and children may pointlessly undergo numerous tests. Therefore, it is very important to recognize and observe this condition in order to avoid extensive, unnecessary and unpleasant procedures on the child.

Proline-rich Transmembrane Protein 2 Gene Mutation in a Sporadic Paroxysmal Kinesigenic Dyskinesia.

Dear Sir, A 12-year-old boy presented with paroxysmal events for the last 3 months. He had no adverse perinatal events and was developmentally normal. He experienced brief episodes of abnormal posturing of upper and lower limbs, usually on the right side. These episodes were triggered by sudden movements like sudden rise from sitting or lying position and sometimes by startle. There was absent premonitory sensation, preserved consciousness during the events, and no “postictal” drowsiness. The frequency was variable from 3 to 5 episodes/day to once in 2–3 days. There were no other body movements, myoclonus, dance-like movements, neuroregression, and hearing or vision impairment. There was no history of headaches or seizures in infancy. The family history was unremarkable for any seizures, movement disorder, or migraine. Examination was normal. Magnetic resonance imaging of his brain and his “interictal” electroencephalogram (EEG) were normal. He had poor response to oral valproate, started by a local practitioner. A possibility of paroxysmal kinesigenic dyskinesia (PKD) was considered in view of sudden movement/startle-induced paroxysmal dyskinesia. He had complete resolution of symptoms on oxcarbazepine. By direct sequencing of the entire coding region and exon-intron boundaries of the proline-rich transmembrane protein 2 (PRRT2) gene, the heterozygous mutation, c. 649dupC p. Arg217Profs*8 mutation, was identified in the patient. This mutation has been previously reported in patients with PKD from several parts of the world. PKD or DYT10, a rare movement disorder, may be sporadic or familial (autosomal dominant with incomplete penetrance). PRRT2 is the major gene responsible for PKD. The encoded protein, PRRT2, has presynaptic localization and appears to be involved in exocytosis and neurotransmitter release. The classical PKD phenotype is characterized by onset in childhood or adolescence; frequent brief attacks of dystonia, choreoathetosis, and/or ballismus with preserved consciousness; precipitation by sudden voluntary movements or startle; frequent aura; normal interictal neurological examination; and excellent response to anticonvulsants. The most effective drugs in PKD are voltage-gated sodium channel blockers (carbamazepine, oxcarbazepine, phenytoin, lacosamide). The common misdiagnosis is epilepsy, but preserved consciousness during the attacks, absence of postictal state, and absence of “ictal” EEG abnormalities favor PKD. The spectrum of PRRT2-associated diseases also includes benign familial infantile seizures, infantile convulsions with choreoathetosis, episodic ataxia, hemiplegic migraine, and benign paroxysmal torticollis of infancy.

The Genetics of Benign Paroxysmal Torticollis of Infancy

Benign paroxysmal torticollis of infancy is an unusual movement disorder, often accompanied by a family history of migraine. Some benign paroxysmal torticollis cases are associated with CACNA1A mutations. The authors sought to determine the frequency of CACNA1A mutations in benign paroxysmal torticollis by testing 8 children and their parents and by searching the literature for benign paroxysmal torticollis cases with accompanying CACNA1A mutations or other disorders linked to the same gene. In our 8 benign paroxysmal torticollis cases, the authors found 3 different polymorphisms, but no pathogenic mutations. By contrast, in the literature, the authors found 4 benign paroxysmal torticollis cases with CACNA1A mutations, 3 with accompanying family histories of 1 or more of familial hemiplegic migraine, episodic ataxia, and paroxysmal tonic upgaze. Thus, CACNA1A mutations are more likely to be found in children with benign paroxysmal torticollis if accompanied by family histories of familial hemiplegic migraine, episodic ataxia, or paroxysmal tonic upgaze.

Episodic Syndromes That May Be Associated With Migraine - Two Clinically Useful Markers

Objective: To document episodic syndromes that may be related to migraine (International Classification of headache disorders edition 3-beta versions, code 1.6) and to suggest two clinically useful markers for diagnosing episodic syndromes. Methods: Children and adolescents aged 3 years to 15 years presenting with recurrent head pain of definite / probable migraine origin were interviewed along with their parents or accompanying family member over a period of 2 years (October 2013 to September 2015). Present and past histories of symptoms suggestive of episodic syndromes were documented. ICHD-3 beta diagnostic criteria applied in all cases. Results: 176 fulfilled the ICHD-3 beta diagnostic criteria for episodic syndromes. Abdominal migraine in 98, brief episodes of vertigo / imbalance suggestive of benign paroxysmal vertigo were reported by 62, Cyclical vomiting in 14 and Benign paroxysmal torticollis in 2.124 (70%) were getting these symptoms when exposed to common migraine triggers in this region. Either a single trigger or combination of triggers precipitated these manifestations. 144 (88%) first or second degree siblings were suffering from migraine (1.1, 1.2, 1.5 or brief migraines). Conclusion: Episodic syndromes are not rare in daily clinical practice. Documenting Common migraine triggers and family history of migraine will make episodic syndrome diagnosis easier in children and adolescents.

NON EPILEPTIC PAROXYSMAL EVENTS IMITATING EPILEPSY IN CHILDREN

Differential diagnosis of epileptic seizures with non epileptic paroxysmal events often have serious difficulties. The most various states which are observed at somatic, neurologic, psychiatric disorders and even at healthy children imitate an epilepsy. Objective. Evaluation of reliability of the diagnosis “epilepsy” in patients referred to the epilepsy center. Material and methods. 2015 patients referred to our epilepsy center for evaluation and treatment for 3-year period. Age from 0 to 21 years. Methods of diagnosis: clinical examination, video-EEG monitoring (VEEG) of 6 to 120 hours, brain MRI. Results. The diagnosis of “epilepsy” was reliably confirmed in 1552 patients (77%). Among these, 101 (6,5%) patients were diagnosed late (later than 6 months from the onset with seizures frequency more often than 1 time per month). At 463 (23%) patients overdiagnosis has been established – the diagnosis epilepsy with the current seizures was established unreasonably. Among them we have identified the following 3 groups: healthy children – 57 patients (12.3%); somatic and neurological disorders – 323 patients (70%); psychogenic non-epileptic seizures (PNES) – 83 patients (18%). The most frequently seizures was imitated by hyperkinetic movement disorders – 40.4% (187 patients), including paroxysmal dyskinesia, hyperkinetic eye movements, pathological nonepileptic myoclonus, jitteriness, shuddering attacks, benign neonatal sleep myoclonus, tics, hyperekplexia, benign myoclonus of early infancy, benign paroxysmal torticollis, spasmus nutans. Among the frequent reasons of over-diagnosis of epilepsy were also parasomnias and PNES. Conclusions. The most frequent diagnostic errors were linked to the lack of objective information about the nature of paroxysms and misinterpretation of the EEG. VEEG is the most valuable tool in the differential diagnosis of epilepsy

A case of missed ocular torticollis.

Torticollis is defined by head tilt toward the contractured muscle and chin rotation to the opposite direction, and can lead to secondary problems such as plagiocephaly, scoliosis, delayed cognitive development and impaired balance [Cooperman, 1997]. Torticollises are a common cause of referral to rehabilitation clinics in the pediatric setting. The etiologies of torticollis may be orthopedic, neurologic or ocular. Congenital muscular torticollis due to sternocleidomastoid contracture is the most common type in infants and may be treated with conservative treatment such as muscle stretching. Surgery is recommended in congenital muscular torticollis if conservative treatment is ineffective or if it results in progressive maxillofacial asymmetry [Suhr and Oledzka, 2015]. Other causes are ocular torticollis due to ocular muscle weakness, Sandifer’s syndrome due to gastroesophageal reflux, neural axis abnormalities and benign paroxysmal torticollis. Ocular torticollis usually occurs due to different ophthalmic conditions, including paralytic and restrictive disorders of ocular movement, nystagmus and defects of the visual field [Herman, 2006]. Here we report a missed ocular torticollis in a girl with presumed congenital muscular torticollis. Case presentation A 5-year-old girl with presumed congenital muscular torticollis underwent left sternocleidomastoid muscle-release surgery. As the patient’s symptoms were not improved after surgery, she was referred to a physical medicine and rehabilitation clinic for further physical treatment. The child had left-side head tilt and chin rotation to the right side with normal passive range of motion. There was no facial asymmetry. Musculoskeletal and neurologic evaluations and cervical vertebrae imaging were normal and there was no evidence of muscular mass or shortening in neck muscles. The patient underwent several sessions of physiotherapy, but despite the normal range of motion, head tilt was not corrected. For further evaluations, she was referred to an ophthalmologist. In ocular motility examination, there was right hypertropia and overaction of the right inferior oblique muscle with underaction of the right superior oblique muscle. Visual acuity was 10 out of 10. The patient was diagnosed with congenital right superior oblique palsy and underwent right inferior oblique muscle weakening. In follow-up examination 1 week after surgery, hypertropia was eliminated and head tilt was corrected.

O016. Does migraine follow benign paroxysmal torticollis?

Background Migraine equivalents are clinical conditions which often involve children who do not complain of headache. They include abdominal migraine, motion sickness, limb pain, cyclical vomiting, benign paroxysmal vertigo, and benign paroxysmal torticollis (BPT). The aim of our study was to investigate whether children referred to us for BPT have developed migraine at a distance from our first observation.

Non headache phenotypes in pediatric age.

Although headache represents the main symptom of migraine, it is a very complex disease and can be manifested by a number of other symptoms. This is particularly evident in pediatric age where clinical conditions different from headache can involve children who are already suffering or will suffer from migrainous headache. In the International Classification of Headache Disorders 3rd edition (ICHD-III), these conditions, occurring as repeated attacks with complete remission between episodes, are defined as “Episodic syndromes which may be associated with migraine”. They include “Cyclical vomiting syndrome” (1.6.1.1), “Abdominal migraine” (1.6.1.2), “Benign paroxysmal vertigo” (1.6.2) and “Benign paroxysmal torticollis” (1.6.3). Though not included in the ICHD-III, other clinical entities, such as motion sickness and limb pain, have been associated with migraine. In order to underline the strict relationship between all these non headache symptoms and migraine, they are also known as “migraine equivalents”. We investigated the migraine equivalents prevalence in a large population of children referred to our pediatric headache centre[1]. A total of 1,134 of children/adolescents (73.2% with migraine and 26.8% with tension-type headache) were included. We found that migraine equivalents could equally involve children with either migraine or tension-type headache and that high frequency of headache attacks correlated with migraine equivalents presence. It was concluded that migraine equivalents should not be considered merely as headache precursors, but they are part of the migrainous syndrome. In a more recent study, we showed that anxiety and somatization levels were higher in migraine children with migraine equivalents, as compared to those without migraine equivalents[2]. Our findings, together with those issued from the literature, suggest that in children and adolescents migraine equivalents should be considered as symptoms of the migrainous disease, thus their inclusion among the diagnostic criteria for pediatric migraine/tension-type headache would be hopeful.

Episodic Syndromes That May Be Associated With Migraine: A.K.A. "the Childhood Periodic Syndromes".

Previously called "childhood periodic syndromes that are commonly precursors of migraine" in International Headache Classification of Headache Disorders (ICHD)-II, these disorders were renamed "episodic syndromes that may be associated with migraine" in ICHD-III beta. The specific disorders reviewed in this article include: benign paroxysmal torticollis, benign paroxysmal vertigo, abdominal migraine, and cyclical vomiting syndrome, as well as infantile colic, which was recently added under the appendix section in ICHD-III beta.

Torticollis in children: an alert symptom not to be turned away.

The aim of this study is to investigate the spectrum of underlying disease in children with torticollis. We investigated the spectrum of underlying disease and to evaluate the clinical features of the children presented with torticollis in the last 2 years. Of the 20 children (13 girls and 7 boys with the mean age of 8 years, ranging 2 months-12 years), eight of them have craniospinal pathologies (cerebellar tumors in three, exophytic brain stem glioma, eosinophilic granuloma of C2 vertebra, neuroenteric cyst of the spinal cord, Chiari type 3 malformation, arachnoid cysts causing brainstem compression, and cerebellar empyema), followed by osseous origin in five (congenital vertebral anomalies including hemivertebrae, blocked vertebra, and segmentation anomalies), two muscular torticollis (soft tissue inflammation due to subclavian artery catheterization, myositis ossificans with sternocleidomastoid muscle atrophy), and ocular (congenital cataract and microphthalmia), Sandifer syndrome, paroxysmal torticollis, retropharyngeal abscess each in one patients were detected. Ten patients underwent surgery; two patients received medical therapy for reflux and benign paroxysmal torticollis; and one patient with torticollis due to muscle spasm and soft tissue inflammation was treated with physiotherapy. Various underlying disorders from relatively benign to life-threatening conditions may present with torticollis. The first step should be always a careful and complete physical examination, which must include all systems. Imaging must be performed for ruling out underlying life-threatening diseases in children with torticollis, particularly, if acquired neurological symptoms exist. Besides craniospinal tumors, ophthalmological problems and central nervous system infections should also be kept in mind. Moreover, early diagnosis of these disorders will reduce mortality and morbidity. Therefore, alertness of clinicians in pediatric and pediatric neurosurgery practice must be increased about this alert symptom.

P156 – 2357: Torticollis: Different etiologic conditions in childhood

Objective Torticollis is an abnormal head posture that occurs at all ages, seen in childhood with an estimated incidence of 1.3%. Clinical presentation includes ipsilateral tilt and controlateral rotation and translation. The purpose of this studyis to better understand the spectrum of disease in torticollis except congenital muscular torticollis. Methods 17 patients presented with complaints of twisted neck, neck pain, weakness of extremity, esotropia and gait disorder between May 2012 and November 2014 were enrolled in this study. Cranial and/or spinal MR, CT imaging, ultrasound and ph meter studies were performed in order to reveal etiology. Results Nine patient underwent surgery, two patientes received medical therapy for reflux and benign paroxysmal torticollis. For six patients only clinical follow-up was sufficient. Conclusion There is a wide differential diagnosis for a patient with torticollis, not just neurological in etiology which should be considered in any patient with torticollis. Moreover, early diagnosis of etiological disease will reduce mortality and morbidity. Therefore, clinicians managing children with torticollis must be vigilant about underlying neurological complications.

P145 – 2410: Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A

Objective Paroxysmal tonic upward gaze was initially described as a benign phenomenon with negative investigations and eventual complete resolution of symptoms. Later publications demonstrated that a similar clinical picture may arise from structural brain lesions, channelopathies, neurotransmitter disorders, and epileptic seizures. CACNA1A related disorders manifest as a wide spectrum of paroxysmal neurological disorders: episodic ataxia 2, hemiplegic migraine, benign paroxysmal torticollis of infancy, and paroxysmal vertigo. Paroxysmal tonic upward gaze as a phenomenon in patients with mutations in the CACNA1A gene has only been reported once. Methods We describe three patients with multiple episodes of paroxysmal tonic upward gaze that appeared during the first months of life. In addition the patients demonstrated motor and language delay and cerebellar ataxia. A sequence analysis of the CACNA1A gene in one patient and whole exome sequencing in the other patients were performed. Results Sequence analysis of the CACNA1A gene in one patient and whole exome sequencing in the two other patients revealed 3 different de-novo mutations in the CACNA1A gene. Conclusion CACNA1A mutations should be evaluated in infants and young children with paroxysmal tonic upgaze especially if associated with developmental delay, cerebellar signs, and other types of paroxysmal events.

Pediatric migraine variants: a review of epidemiology, diagnosis, treatment, and outcome.

Pediatric migraine variants, previously known as childhood periodic syndromes, migraine equivalents, or migraine precursors, are a group of periodic or paroxysmal disorders occurring in patients who also have migraine with or without aura, or who have an increased likelihood of developing migraine. They have common key clinical features including periodic or paroxysmal character, normal neurological examination between attacks, family history of migraine, and clinical evolution to classic types of migraine. This article aims to review the pathophysiology, evaluation, and management of the pediatric migraine variants including abdominal migraine, benign paroxysmal vertigo, cyclic vomiting syndrome, and benign paroxysmal torticollis as well as the episodic syndromes that may lead to migraine, infantile colic, alternating hemiplegia of childhood, and vestibular migraine.

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A

ObjectiveParoxysmal tonic upward gaze was initially described as a benign phenomenon with negative investigations and eventual complete resolution of symptoms. Later publications demonstrated that a similar clinical picture may arise from structural brain lesions, channelopathies, neurotransmitter disorders, and epileptic seizures. CACNA1A related disorders manifest as a wide spectrum of paroxysmal neurological disorders: episodic ataxia 2, hemiplegic migraine, benign paroxysmal torticollis of infancy, and paroxysmal vertigo. Paroxysmal tonic upward gaze as a phenomenon in patients with mutations in the CACNA1A gene has only been reported once. MethodsWe describe three patients with multiple episodes of paroxysmal tonic upward gaze that appeared during the first months of life. In addition the patients demonstrated motor and language delay and cerebellar ataxia. A sequence analysis of the CACNA1A gene in one patient and whole exome sequencing in the other patients were performed. ResultsSequence analysis of the CACNA1A gene in one patient and whole exome sequencing in the two other patients revealed 3 different de-novo mutations in the CACNA1A gene. ConclusionCACNA1A mutations should be evaluated in infants and young children with paroxysmal tonic upgaze especially if associated with developmental delay, cerebellar signs, and other types of paroxysmal event.

Pediatric migraine and episodic syndromes that may be associated with migraine.

ImportanceMigraine is a common disorder and a frequent cause of medical consultation in children. Many childhood episodic syndromes have been described as common precursors of migraine.ObjectiveTo review current knowledge on migraine and childhood episodic syndromes, and to discuss future directions for research and clinical practice.FindingsFor most children it is difficult to describe a headache and fully verbalize symptoms such as photophobia and phonophobia that must be inferred from behaviour. Classical migraine features are rare before the age of 6 years, but some migraine-related syndromes have been described. Benign paroxysmal torticollis of infancy, benign paroxysmal vertigo of childhood, cyclic vomiting syndrome and abdominal migraine are currently classified as childhood episodic syndromes, and therefore common precursors of migraine. A strong association between infantile colic and migraine has recently been reported. There are similarities between children with episodic syndromes and children with migraine, regarding social and demographic factors, precipitating and relieving factors, and accompanying gastrointestinal, neurologic, and vasomotor features. The real pathophysiological mechanisms of migraine are not fully understood. Current data obtained through molecular and functional studies provide a complex model in which vascular and neurologic events cooperate in the pathogenesis of migraine attacks. Genetic factors causing disturbances in neuronal ion channels, make a migraineur more sensitive to multiple trigger factors that activate the nociception cascade. The expanding knowledge on migraine genetics and pathophysiology may be applicable to childhood episodic syndromes. Migraine preventive strategies are particularly important in children, and could be beneficial in childhood episodic syndromes. Nonspecific analgesics like ibuprofen and acetaminophen are widely used in pediatrics to control pain and have been found to be effective also in the treatment of acute migraine attacks. Triptans are the specific fist-line drugs for acute migraine treatment.Conclusions and relevanceMigraine phenotype differs somewhat in the developing brain, and childhood episodic syndromes may arise before typical migraine headache. Diagnosing pediatric migraine may be difficult because of children’s language and cognitive abilities. The risk of underestimating migraine in pediatric age is high. An adequate diagnosis is important to maintain a good quality of life and to avoid inappropriate therapy.

Migraine Equivalents as Part of Migraine Syndrome in Childhood

BackgroundMigraine equivalents are common clinical conditions without a headache component, occurring as repeated episodes with complete remission between episodes. They include abdominal migraine, cyclical vomiting, benign paroxysmal vertigo, and benign paroxysmal torticollis. Other clinical entities, such as motion sickness and limb pain have been associated with migraine. We aimed to investigate the prevalence of migraine equivalents in a large population of children referred to a pediatric headache center and to analyze the possible relationship between migraine equivalents and headache features. MethodsA total of 1134 of children/adolescents (73.2% with migraine and 26.8% with tension-type headache) were included. Patients were divided into two groups according to the episode frequency (high and low). Pain intensity was rated on a three-level graduate scale (mild, moderate, and severe pain). ResultsMigraine equivalents were reported in 70.3% of patients. Abdominal migraine (48.9%), limb pain (43.9%), and motion sickness (40.5%) were the most common migraine equivalents. Although headache type (migraine or tension-type headache) did not correlate with migraine equivalents presence (χ2 = 33.2; P = 0.27), high frequency of headache episodes correlated with the occurrence of migraine equivalents. Moreover, migraine equivalents indicated a protective role for some accompanying feature of the headache episode. ConclusionsOur results suggest that migraine equivalents should not be considered merely as headache precursors, but they as part of the migrainous syndrome. Thus, their inclusion among the diagnostic criteria for pediatric migraine/tension-type headache is useful.

A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy

Benign paroxysmal torticollis of infancy (BPTI) is a rare paroxysmal disorder characterized by recurrent episodes of head tilt and accompanying general symptoms which remit spontaneously. The rare association with gain-of-function CACNA1A mutations, similar to hemiplegic migraine, has been reported. We report here two new BPTI patients from the same family carrying a heterozygous mutation in the CACNA1A gene leading to the change p.Glu533Lys. Functional analysis revealed that this mutation induces a loss of channel function due to impaired gating by voltage and much lower current density. Our data suggest that BPTI, a periodic syndrome commonly considered a migraine precursor, constitutes an age-specific manifestation of defective neuronal calcium channel activity.

Migraine Equivalents in Childhood

Migraine equivalents are a group of periodic and paroxysmal neurologic diseases. Because headache is not a prominent symptom, the diagnosis might be challenging. The objective of the study was to evaluate the frequency and outcome of migraine equivalents. This was a retrospective study. We included benign paroxysmal torticollis of infancy, benign paroxysmal vertigo of infancy, abdominal migraine, cyclic vomiting, aura without migraine, and confusional migraine. We evaluated the frequency of events, treatment, and outcome. Out of 674 children with headache, 38 (5.6%) presented with migraine equivalents. Twenty-one were boys and the mean age was 6.1 years. Fifteen had abdominal migraine, 12 benign paroxysmal vertigo, 5 confusional migraine, 3 aura without migraine, 2 paroxysmal torticollis, and 1 cyclic vomiting. Prophylactic treatment was introduced in 23 patients; 4 lost follow-up and 19 had significant improvement. We conclude that the correct diagnosis of migraine equivalents enables an effective treatment with an excellent outcome.

Migraine and childhood periodic syndromes in children and adolescents

This review covers recent advances in our understanding of migraine and childhood periodic syndromes in children and adolescents, as well as the treatment of these disorders. The childhood periodic syndromes include benign paroxysmal torticollis, benign paroxysmal vertigo, abdominal migraine, and cyclic vomiting syndrome. Recent research suggests infant colic may also fit into this category. Migraine headache is common in children and adolescents, and chronic migraine effects 0.8-1.8% of adolescents and 0.6% of children. Two triptans are now FDA-approved for the acute treatment of migraine in pediatric patients. For preventive therapy, a number of medications have been studied and a major national trial is ongoing. Childhood periodic syndromes are thought to be early life expressions of those genes that later in life are expressed as migraine headache. Future research into mechanisms of identifying children with these disorders prior to extensive and often invasive testing would be of benefit to these families and children. Migraine-specific therapies are now approved for the acute treatment of migraine in pediatric patients. Preventive migraine therapy is indicated in appropriate patients, although which medications are most effective in children is an area of active research.

Migraine variants – Occurrence in pediatric neurology practice

Migraine is common in pediatric neurology practice, while migraine variants are rare and pose diagnostic problems. ObjectiveThe aim was to establish the occurrence of migraine variants in pediatric neurology practice and among migraine, and to discuss their presentation. Patients and methodsThe files of 2509 newly diagnosed patients, aged 0–18 years, treated as in- and out-patients in the Neuropediatric Ward at the Plovdiv Medical University Hospital between 2002 and 2006 were examined retrospectively. Migraine forms were diagnosed according to ICHD-II. Benign paroxysmal torticolis and alternating hemiplegia of childhood were also accepted as migraine variants according to proposed diagnostic criteria in the appendix of ICHD-II. Some specific forms like acute confusional migraine (ACM), Alice in wonderland syndrome (AWS), ophthalmoplegic migraine were also diagnosed although not included as migraine variants in the ICHD-II classification. Results111 patients met diagnostic criteria for migraine. Patients with migraine variants comprised 24.3% of migrainous cases. Basilar type migraine was the most common (6.3% of all migrainous patients), followed by benign paroxysmal vertigo (5.4%), hemiplegic migraine (3.6%), ACM (2.7%), benign paroxysmal torticolis (2.7%), typical aura without headache (1.8%), abdominal migraine (1.8%), AWS (0.9%), ophthalmoplegic migraine (0.9%) and cyclical vomiting (0.9%). Alternating hemiplegia of childhood and retinal migraine was not found. Some patients either presented or were classified as different migraine variants. ConclusionBasilar type migraine was the most common migraine variant. ACM and AWS should be regarded as distinct entities in the ICHD as migraine with complex aura. Benign paroxysmal torticollis also deserves its place as a migraine variant. Cases of ophthalmoplegic migraine with spontaneous remission and no cranial nerve enhancement on MRI should be considered as migraine form. Analyzing migraine variants will contribute to better awareness and adequate diagnosis.