Genetically targeted therapies for rare Mendelian conditions are improving patient outcomes. Here, we present the case of a 20-mo-old female suffering from a rapidly progressing neurological disorder. Although diagnosed initially with a possible autoimmune condition, analysis of the child's exome resulted in a diagnosis of BrownVialetto-Van Laere syndrome 2 (BVVLS2). This new diagnosis led to a change in the therapy plan from steroids and precautionary chemotherapy to high-dose riboflavin. Improvements were reported quickly, including in motor strength after 1 mo. In this case, the correct diagnosis and appropriate treatment would have been unlikely in the absence of exome sequencing and careful interpretation. This experience adds to a growing list of examples that emphasize the importance of early genome-wide diagnostics.

One of the most promising outcomes of whole-exome sequencing (WES) is the alteration of medical management following an accurate diagnosis in patients with previously unresolved disorders. Although case reports of targeted therapies resulting from WES have been published, there are few reports with long-term follow-up that confirm a sustained therapeutic response. Following a diagnosis by WES of BrownVialetto-Van Laere Syndrome 2 (BVVLS2), high-dose riboflavin therapy was instituted in a 20-mo-old child. An immediate clinical response with stabilization of signs and symptoms was noted over the first 2-4 wk. Subsequent clinical follow-up over the following 8 mo demonstrates not just stabilization, but continuing and sustained improvements in all manifestations of this usually fatal condition, which generally includes worsening motor weakness, sensory ataxia, hearing, and vision impairments. This case emphasizes that early application of WES can transform patient care, enabling therapy that in addition to being lifesaving can sometimes reverse the disabling disease processes in a progressive condition.

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Objective: To assess the demographics and clinical characteristics of children presenting with acute neurologic symptoms concerning for stroke. Background: Stroke leads to significant morbidity in the pediatric population. Stroke protocols were created as a means to help identify and triage these children. Despite implementation of these protocols, there have been few population-based studies evaluating the demographics and clinical features of children presenting with acute strokelike symptoms. Methods: A retrospective chart review of patients for whom the stroke alert process was activated from September 2016 through August 2018 at Children's Mercy Hospital. Results: There were a total of 61 activations. Acute ischemic stroke or transient ischemic attack comprised 18% and was the second leading diagnoses after seizure with postictal (Todd) paralysis (20%). Two activations were candidates for mechanical thrombectomy, and none received tissue plasminogen activator (tPA). Children with acute ischemic stroke / transient ischemic attack were likely to be younger in age (median 4 years, interquartile range [IQR] 3-9) compared to those with nonischemic stroke diagnoses (median 12.5 years, IQR 7-15.3) ( P = .010). The anatomical location of acute ischemic stroke was widespread, including both anterior and posterior circulations. Past medical history, family history, racial demographics, sex, and initial presenting symptoms were not predictive of the diagnosis of acute ischemic stroke / transient ischemic attack. 38% of activations with diagnoses other than transient ischemic attack / acute ischemic stroke required urgent treatment, with 16% requiring intensive care unit admission. Conclusion: Acute ischemic stroke / transient ischemic attack comprised nearly one-fifth of all pediatric stroke activations, highlighting the importance of developing protocols for early recognition and evaluation of children who present with symptoms concerning for stroke.