Child neurology open最新文献

Pitt-Hopkins syndrome is a rare genetic neurodevelopmental disorder characterized by intellectual disability, delayed motor development, and absent speech. Patients often show symptoms of respiratory dysrhythmia, including episodes of hyperpnea followed by apnea with cyanosis. These spells occur while awake and do not have ictal correlate on electroencephalogram (EEG). The episodes can become quite frequent and can be challenging to treat. We present a case of a teenage patient with Pitt-Hopkins syndrome who had very frequent apneic spells that responded well to treatment with topiramate after limited response to acetazolamide.

Evaluations of all Arabic speaking children age 3-9.0 years with significant speech delays or impairments, referred to a community based, child development center in the public health care system during a 5-year period were reviewed. Use of an inordinate degree of words and expressions in Fossha version of classical Arabic, mainly used in the media, children's literature and formalized venues, as well as in English, was highly associated with ASD, especially among those who were both more intelligent (IQ> 70), as well as older (greater than 4 years), (Pearson 7.29, Fisher 2-tailed test, p = 0.015). The use of "out of context" speech embedded in ordinary Arabic vernacular was associated with a higher degree of speech stereotypy (p < 0.001) among children with ASD, and unrelated statistically to the number of hours of screen viewing time, jargoning or associative speech. Idiosyncratic speech choices reflect neuro-linguistic mechanisms in social communication- impaired youngsters.

We present a case report of a 10-year-old completely immunized boy presenting with a 2-week history of bilateral eyelid drooping, fatigue followed by bladder and bowel paralysis. This was followed by the appearance of a vesicular painful and itchy rash which directed further diagnosis and treatment as it was consistent with a varicella reactivation rash. This case is a very important addition to the current body of literature on varicella-related neurological complications. It outlines that varicella reactivation can present in completely vaccinated, immunocompetent young children as a neurological syndrome affecting the autonomic nervous system primarily and the rash can occur a few weeks later after presentation of the neurological symptoms.

A graduating child neurology resident reflects upon how her first neurology "patient" single-handedly taught her an entire textbook worth of knowledge and became the guiding force that led her to leave general pediatrics.

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.

Over six billion doses of Coronavirus Disease 2019 (COVID-19) vaccines have been administered worldwide. Amidst the global COVID-19 vaccination campaign, vaccine-related side effects are of ongoing concern and investigation. According to the Centers for Disease Control and Prevention (CDC) and the United States Department of Health and Human Services, three main conditions in adults have surfaced in association with receiving the COVID-19 vaccines. These include thrombosis with thrombocytopenia syndrome (TTS), a rare syndrome involving venous or arterial thrombosis and thrombocytopenia, Guillain-Barre syndrome (GBS), and myocarditis. While a number of GBS cases in adults have been published, to our knowledge, only one pediatric case of COVID-19 vaccine-related GBS has been reported. Herein we describe a case of sensory predominant GBS following the Pfizer-BioNTech COVID-19 vaccine in a 16-year-old female presenting with bilaterally ascending upper and lower extremity numbness and paresthesia.