Bell’s palsy is an acute facial paralysis with known association to viral infections. We describe a medically complex 6-year-old male with hyper IgM syndrome who presented with unilateral facial ...droop and positive SARS-CoV-2 RT-PCR. This is the first reported pediatric case of Bell’s palsy in the setting of SARS-CoV-2 infection.
The opioid epidemic has been declared a US national public health emergency. Discrepancies in the rates of abuse and access to treatment exist among non-white minorities. A narrative literature ...review evaluated the minority racial disparities in opioid use, abuse, and care in the US. Racial disparities in the prescription of opioid-containing compounds are dramatic with the non-white individuals being prescribed at half the rate. Historical and cognitive biases may have insulated the non-white minorities, while the minorities have limited access to treatment. Physician bias, media portrayal of opioid abuse disorders, and governmental regulation are a polyfactorial root of racial inequity in the opioid epidemic. As part of the national response, addressing these issues will be an important factor in curbing this epidemic.
Down syndrome disintegrative disorder (DSDD), a developmental regression in children with Down syndrome (DS), is a clinical entity that is characterized by a loss of previously acquired adaptive, ...cognitive, and social functioning in persons with DS usually in adolescence to early adulthood. Initially reported in 1946 as "catatonic psychosis," there has been an increasing interest among the DS community, primary care, and subspecialty providers in this clinical area over the past decade. This condition has a subacute onset and can include symptoms of mood lability, decreased participation in activities of daily living, new-onset insomnia, social withdrawal, autistic-like regression, mutism, and catatonia. The acute phase is followed by a chronic phase in which baseline functioning may not return. No strict criteria or definitive testing is currently available to diagnose DSDD, although a comprehensive psychosocial and medical evaluation is warranted for individuals presenting with such symptoms. The etiology of DSDD is unknown, but in several hypotheses for regression in this population, psychological stress, primary psychiatric disease, and autoimmunity are proposed as potential causes of DSDD. Both psychiatric therapy and immunotherapies have been described as DSDD treatments, with both revealing potential benefit in limited cohorts. In this article, we review the current data regarding clinical phenotypes, differential diagnosis, neurodiagnostic workup, and potential therapeutic options for this unique, most disturbing, and infrequently reported disorder.
Bickerstaff brainstem encephalitis is a rare, immune-mediated disorder of the brainstem and peripheral nervous system. Published knowledge of pediatric Bickerstaff brainstem encephalitis focuses on ...the acute phase of the disease process. This study evaluated long-term neurologic and immune sequelae of Bickerstaff brainstem encephalitis in children. A single-center retrospective chart review was performed. Clinical data, neuroimaging, polysomnograms, and serum data were reviewed. Five patients were included in this study. Four patients had no neurologic residua, and 1 patient continued to have mild bulbar dysfunction. There was neither recurrence of symptoms nor development of other neurologic or immunologic disorders at a median of 3 years after diagnosis. Review of systems was largely negative, although 2 patients endorsed symptoms consistent with mild orthostatic hypotension for 1 year after diagnosis, but these findings were not sustained. Four of 5 patients endorsed sleep dysregulation. Three patients met criteria for pediatric obstructive sleep apnea. Prognosis following pediatric Bickerstaff brainstem encephalitis is excellent although posttreatment autonomic and sleep dysregulation may reflect residua from acute phase inflammation in the peripheral nervous system and connections of the reticular activating formation of the brainstem, although this was time limited. Further prospective, multicenter, analysis is warranted.
Aicardi-Goutières syndrome (AGS) is a genetic interferonopathy characterized by upregulation of type I interferon response. It is associated with increased mortality and severe disabilities. Janus ...Kinase (JAK) inhibitors have shown effectiveness in treatment of AGS through blocking the downstream effects of interferon activation. We illustrate post-mortem histopathologic findings in a patient with AGS who received baricitinib treatment for a duration of over 4 years, initiating at a remarkably young age of 2 months. We observed global cerebral atrophy, markedly diminished white matter, abundant calcifications involving supratentorial white matter, basal ganglia, dentate nuclei, and brainstem. This study showed profound central nervous system (CNS) sequelae despite early initiation of treatment. Our findings highlight the potential necessity for therapeutic options with enhanced CNS bioavailability.
Down syndrome (DS) is one of the most well-recognized genetic disorders. Persons with DS are known to have a variety of co-morbid medical problems, affecting nearly all organ systems. Improved ...healthcare interventions and research have allowed for increased life span of persons with DS, although disorders of the neurologic system remain underexplored. The purpose of this systematic review is to provide clinically pertinent information on the neurological phenotypes of frequently occurring or clinically relevant conditions. A retrospective review of MEDLINE, Scopus, and Pubmed were used to identify sources among seventeen, clinically relevant, search categories. MeSH terms all contained the phrase “Down Syndrome” in conjunction with the topic of interest. ‘Frequently-occurring’ was defined as prevalent in more than 10% of persons with DS across their lifespan, whereas ‘clinically-relevant’ was defined as a disease condition where early diagnosis or intervention can augment the disease course. In total, 4896 sources were identified with 159 sources meeting criteria for inclusion. Seventeen clinical conditions were grouped under the following subjects: hypotonia, intellectual and learning disability, cervical instability, autism spectrum disorder, epilepsy, cerebrovascular disease, Alzheimer’s disease and neuropsychiatric disease. The results of this review provide a blueprint for the clinical neurologist taking care of persons with DS across the age spectrum and indicate that there are many underrecognized and misdiagnosed co-occurring conditions in DS, highlighting the need for further research.
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