Publications by authors named "Alexandra B Kornbluh"

Horner syndrome is a clinical triad of ptosis, miosis, and anhidrosis, which commonly prompts urgent neuroimaging. The differential diagnosis of new-onset Horner syndrome in children includes neurological emergencies. We report here a case of a 13-month-old male infant with acute-onset Horner syndrome, subsequently found to have a large mediastinal lymphatic malformation compressing the trachea and neck vasculature.

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Although X-linked adrenoleukodystrophy (ALD) has historically been considered a childhood disease managed by pediatric neurologists, it is one of the most common leukodystrophies diagnosed in adulthood. An increase in both male and female adults reaching diagnosis due to familial cases identified by state newborn screening panels and more widespread use of genetic testing results in a large cohort of presymptomatic or early symptomatic adults. This population is in urgent need of standardized assessments and follow-up care.

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Background: Isolated psychiatric symptoms can be the initial symptom of pediatric anti-N-methyl-d-aspartate (NMDA) receptor autoimmune encephalitis (pNMDARE). Here we report on the prevalence of isolated psychiatric symptoms in pNMDARE. We also assess whether initial neurodiagnostic tests (brain magnetic resonance imaging [MRI], electroencephalography [EEG], and/or cerebrospinal fluid [CSF] white blood cell count) are abnormal in children with isolated psychiatric symptoms and pNMDARE.

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Background: Eosinophils in cerebrospinal fluid (CSF) are an uncommon finding most often associated with parasitic infections, but have also been described in some neuroinflammatory disorders. Eosinophilic infiltration is not thought to be a typical feature of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). We aim to describe the rate of CSF eosinophil positivity in a cohort of pediatric MOGAD patients.

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Background: Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by mutations in the WAS gene that leads to increased susceptibility to infections, thrombocytopenia, eczema, malignancies, and autoimmunity. Central nervous system (CNS) autoimmune manifestations are uncommon.

Case Presentation: We describe the case of a five-year-old boy with refractory thrombocytopenia and iron deficiency anemia who developed relapsing bilateral optic neuritis.

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The current diagnostic criteria for pediatric onset multiple sclerosis (POMS) are summarized, as well as the evidence for performance of the most recent iteration of McDonald criteria in the pediatric population. Next, the varied roles of MRI in POMS are reviewed, including diagnostic considerations and research-based utilization. The primary role of bloodwork and cerebrospinal fluid studies in the diagnosis of POMS is to rule out disease mimics.

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Article Synopsis
  • The study investigates the relationship between MRI lesions and clinical outcomes in children with anti-NMDA receptor encephalitis (pNMDARE).
  • A total of 175 children were examined, and it was found that those with abnormal T2-hyperintense lesions, especially in the frontal and occipital lobes, had worse outcomes after one year.
  • Although the initial association between MRI features and poor outcomes weakened after certain adjustments, further analysis indicated that specific brain lesions could still serve as potential predictors for prognosis in future studies.
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Study Objectives: There is a well-established association between headache disorders and sleep disturbances in children, but it is unknown whether sleep disturbance plays a role in pediatric intracranial hypertension. The objective of this study was to examine sleep issues related to pediatric intracranial hypertension.

Methods: Patients with intracranial hypertension in the Pediatric Intracranial Hypertension Clinic were recruited between July 2017 and September 2018.

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