Pearls in Pediatric Neurology

Educational Objectives

The goal of this program is to improve the management of pediatric neurology cases. After hearing and assimilating this program, the clinician will be better able to:

1. Evaluate clinical features of sunflower syndrome.
2. Identify the clinical presentation of different types of episodic ataxias.

Summary

Heliotropism (Dr. Foster-Barber)

Sunflower syndrome or heliotropism: patients want to look at bright light; it is a rare photosensitive epilepsy in which bright light triggers electroencephalography (EEG) activity; hand-waving episodes are often ictal phenomena (sometimes accompanied by eye blinking or rolling); predominant in female individuals; symptom onset occurs between 2 and 8 yr of age and decrease with age (has been reported in patients ≤41 yr); does not cause a photoparoxysmal response; the EEG is generalized 1 to 4 Hz spike-and-wave activity with normal interictal EEG; >50% of children have other generalized seizure types, eg, myoclonic absence seizures and generalized tonic-clonic seizure; ≈30% of children have a family history of generalized epilepsy; often mistaken for a tic; sometimes mistaken for hand flapping stereotypy seen in children with autism or other neurodevelopmental conditions; autism is not specifically associated with this condition, and many children are socially typical

Evaluation: differentially diagnosed as absence epilepsy, with atypical hand-waving movements; these children mostly have normal awareness during most of the brief events; possible overlap with Jeavons syndrome or epilepsy with eyelid myoclonia (treatment response varies); has a significant effect on education and social interaction; first believed to be self-induced; it was later discovered that EEG changes were caused by direct bright light, and hand-waving activity never preceded the EEG change; as patients age, they may experience forehead or eye rubbing

Treatment: difficult to treat; does not respond to behavioral therapy; environmental changes (eg, wearing a hat and polarized lenses) can help; >50% of these children do not respond to antiseizure medications; valproic acid or divalproex sodium (Depakote) has the best data; levetiracetam (Keppra) is associated with a poor response; ongoing trials of fenfluramine seem promising

Ataxias (Dr. Grijalvo-Perez)

Ataxias: can be intermittent or paroxysmal; differential diagnosis helps ensure it is not toxic, metabolic, or iatrogenic; it may be a migraine variant (common) or a postictal phenomenon

Episodic ataxias: type 1 and type 2 are common; they are autosomal dominant disorders and tend to be familial; many types are channelopathies, eg, type 1, type 2, type 5, and type 9; type 6 is caused by glutamate reuptake inhibition; there can be overlap between all episodic ataxias, making it difficult to guide diagnostics based on a single phenotypic feature; conducting an ataxia panel helps (unless type 1 or 2 is suspected)

Episodic ataxia type 1: has many names; it is a channelopathy involving the KCN1A voltage-gated ion channel and is autosomal dominant; in most cases, it is a missense mutation or familial; typically seen in childhood to adolescence and tends to improve with age; clinical presentation — attacks are brief, lasting seconds to minutes; description of the symptoms vary and may include dysarthria, imbalance, stiffening or dystonia (making it difficult to differentiate from kinesigenic dyskinesia), and tremors; the frequency is highly variable, and many triggers, eg, emotional upset, stress, and initiation of movement, have been described; paroxysmal kinesigenic dyskinesia is more about dystonia than ataxia; clinical features — include myokemia, contractures, and increased incidence of epilepsy; diagnosis — ataxia panel is useful; muscle biopsy is not diagnostic; brain magnetic resonance imaging (MRI) is usually normal; electromyography can show myokemia (is not necessary); treatment — include antiepileptics, eg, carbamazepine, oxcarbazepine (Trileptal), and acetazolamide

Episodic ataxia type 2: characterized by longer episodes (lasting hours to days); children often have migraines; they have nystagmus (not myokemia) interictally; treatment — include acetazolamide and potassium channel blockers, eg, aminopyridines; it is a channelopathy involving CACNA1A, which serves the same locus as familial hemiplegic migraine and spinocerebellar ataxia type 6 (with a different mechanism of the genetic mutation)

Neck-Tongue Syndrome (Dr Gelfand)

Neck-tongue syndrome: lateral atlantoaxial joint (joint between C1 and C2 vertebrae) is the key player; turning the neck to the side can cause abnormal subluxation of this joint, resulting in clicking sounds; cause symptoms at the back of the neck or occiput; C1, C2, and C3 together make the ansa hypoglossi, which anastomose in the tongue with the hypoglossal and lingual nerves; people may experience numbness, tingling in the ipsilateral tongue, funny posture, and stiffness when C2 gets involved; rotatory movements can act as triggers, eg, swimming, dancing; starts in young people, especially children, teenagers, and young adults in their 20s; a rare disorder with an estimated population prevalence of 0.2%; many people probably do not report it; some patients reported a family history (suggesting a genetic predisposition)

Diagnosis: no agreed-upon standard; additional testing may not be necessary if there is a family history in an otherwise healthy adolescent or person in their 20s; if the condition developed after head or neck trauma or if the patient has comorbidities that predispose them to atlantoaxial instability, eg, Down syndrome, rheumatoid arthritis, or Ehlers-Danlos syndrome, more detailed examination may be necessary; flexion-extension films of the neck can help; can consider dynamic imaging, eg, computed tomography and MRI; can consult a neuroradiologist

Treatment: no agreed-upon standard; many patients may not need treatment; reassurance and information about their condition can help; modifying activities can be used as a preventive; nonsteroidal anti-inflammatory drugs or chiropractic or spinal manipulations can help; medications used for other forms of nerve related pain, eg, amitriptyline or gabapentin, can help some patients

Readings

Choi KD, Choi JH. Episodic ataxias: clinical and genetic features. Journal of Movement Disorders. 2016;9(3):129-135. DOI: https://doi.org/10.14802/jmd.16028; Gelfand AA, Johnson H, Lenaerts MEP, et al. Neck-Tongue syndrome: a systematic review. Cephalalgia. 2017;38(2):374-382. doi:10.1177/0333102416681570; Hassan A. Episodic ataxias: primary and secondary etiologies, treatment, and classification approaches. Tremor Other Hyperkinet Mov (N Y). 2023;13:9. doi: 10.5334/tohm.747; Kovermann P, Untiet V, Kolobkova Y, et al. Increased glutamate transporter-associated anion currents cause glial apoptosis in episodic ataxia 6. Brain Commun. 2020;2(1):fcaa022. doi: 10.1093/braincomms/fcaa022; Sourbron J, Ayub N, Luo Y, et al. Ictal EEG in sunflower syndrome: provoked or unprovoked seizures? Epilepsy and Behavior. 20220;113:107470. https://doi.org/10.1016/j.yebeh.2020.107470; Strupp M, Zwergal A, Brandt T. Episodic ataxia type 2. Neurotherapeutics. 2007;4(2):267-73. doi: 10.1016/j.nurt.2007.01.014.

Disclosures

For this program, members of the faculty and planning committee reported nothing relevant to disclose. Dr. Gelfand's lecture includes information related to the off-label treatment of neck-tongue syndrome.

Acknowledgements

Dr. Foster-Barber, Dr. Grijalvo-Perez, and Dr. Gelfand were recorded at the Recent Advances in Neurology 2025, held on February 12-14, 2025, in San Francisco, CA, and presented by the University of California, San Francisco, School of Medicine. For information on future CME activities from this presenter, please visit cme.ucsf.edu. Audio Digest thanks the speakers and University of California, San Francisco, School of Medicine, for their cooperation in the production of this program.

CME/CE INFO

Accreditation:

The Audio- Digest Foundation is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

The Audio- Digest Foundation designates this enduring material for a maximum of 1.00 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Audio Digest Foundation is accredited as a provider of continuing nursing education by the American Nurses Credentialing Center's (ANCC's) Commission on Accreditation. Audio Digest Foundation designates this activity for 1.00 CE contact hours.

Lecture ID:

NE160902

Expiration:

This CME course qualifies for AMA PRA Category 1 Credits™ for 3 years from the date of publication.

Instructions:

To earn CME/CE credit for this course, you must complete all the following components in the order recommended: (1) Review introductory course content, including Educational Objectives and Faculty/Planner Disclosures; (2) Listen to the audio program and review accompanying learning materials; (3) Complete posttest (only after completing Step 2) and earn a passing score of at least 80%. Taking the course Pretest and completing the Evaluation Survey are strongly recommended (but not mandatory) components of completing this CME/CE course.

Estimated time to complete this CME/CE course:

Approximately 2x the length of the recorded lecture to account for time spent studying accompanying learning materials and completing tests.