SCN2A- Associated Episodic and Persistent Ataxia with Cerebellar Atrophy: A Case Report.

SCN2A, a gene that codes for a sodium channel highly expressed in the cerebellum, has been linked to a heterogeneous phenotype, including episodic ataxia (EA) and epilepsy, among other symptoms1. Given the rarity of SCN2A-associated EA and its recent description, it is important the genotype-phenotype relationship of SCN2A-associated EA be better defined for prognosis and optimizing future management. Thus, we describe a 2-year-old boy with a SCN2A variant causing an initial prolonged episode of profound ataxia lasting 4 months, cerebellar atrophy, and persistent mild ataxia with episodic exacerbations. Due to the patient's lack of early epilepsy, prolonged initial episode of ataxia, and cerebellar atrophy, this case broadens the scope of the SCN2A variant phenotype. SCN2A should be considered as a cause of early onset ataxia in children with targeted testing or as part of Whole Exome Sequencing (WES) in patients with new onset persistent or EA with or without seizures.

Use of Dalfampridine in a Young Child with Episodic Ataxia Type 2.

Episodic ataxia type 2 (EA2) is a rare autosomal dominant disorder associated with mutations of the CACNA1A gene.1 Because there is no curative therapy available, EA2 is typically managed symptomatically. First line treatment has typically been with acetazolamide.2 Dalfampridine has also been noted to decrease the frequency and duration of ataxic attacks in patients ranging in age from adolescence through adulthood.3, 4 The efficacy and dosing of dalfampridine has not yet been studied in younger pediatric populations. The lack of published experience in younger children can and has led to these patients going without potentially safe and effective treatment. Thus, we describe an 8-year-old girl with EA2 and a confirmed CACNA1A gene mutation whose symptoms had been previously unrelieved by acetazolamide. She was subsequently trialed on dalfampridine and experienced symptomatic relief at a dose of 0.3 mg/kg.

Vanishing White Matter Disease Diagnosis After Athletic Concussion in an Adolescent Male Patient.

ABSTRACT: We report the recognition of a diagnosis of leukoencephalopathy with vanishing white matter, also known as vanishing white matter disease in an adolescent male patient after a sports-related concussion. The patient's atypical symptoms after the concussion led to imaging and subsequent neurological consultation. The objective of this clinical case is to highlight the importance of considering imaging in patients who present with atypical symptoms that may be present after a concussion and to raise awareness of this rare disorder which can present after head trauma.

Psychogenic Gait Disorder Complicating Recovery After Concussion: A Case Series.

BACKGROUND: Gait impairment is common after concussion. "Dizziness" is associated with prolonged recovery after concussion. Most often each of these symptoms is considered to be of vestibular origin. However, whether or not there are psychological etiologies of gait instability that complicate concussion recovery has been less fully explored. METHODS: A chart review was performed of all patients seen between 2017 and 2019 in a weekly pediatric traumatic brain injury clinic. RESULTS: Of eighty-four patients with traumatic brain injury, five were found to have developed a classic psychogenic gait. All were adolescents at the time of diagnosis. Recognition of this complication led to modification/initiation of physical therapy and/or mental health intervention and eventual resolution for all patients. CONCLUSION: Although uncommon, psychogenic gait disorders may complicate concussion recovery in adolescents likely at a higher rate than their occurrence in the general population. This association has not been previously reported. Accurate diagnosis of psychogenic gait likely improves outcomes in this subset of patients with concussion.