Child neurology open最新文献

Anti-SRY-related HMG-box gene 1 (SOX1) antibodies were initially described in adults with paraneoplastic neurological disorders, where they are considered high-risk onconeural autoantibodies. Only two pediatric cases of anti-SOX1 antibodies have been reported: a 17-year-old adolescent presenting with paraneoplastic limbic encephalitis due to Hodgkin lymphoma and a 12-year-old girl presenting with non-paraneoplastic encephalitis. We present a unique case of anti-SOX1 antibodies in a 3-year-old girl, post-varicella infection. Initially, she presented with ataxia and dysmetria, with subsequent reports from parents of urinary incontinence and significant behavior changes. Additionally, reflexes in the lower limbs were absent. Anti-SOX1 antibodies tested positive in both serum and cerebrospinal fluid. Oncological screening at presentation and a seven-month follow-up showed no malignancies. The patient exhibited favorable clinical progress without requiring treatment. At the seven-month follow-up, serum antibodies tested negative. This case report broadens the known clinical spectrum, being the first description of post-varicella anti-SOX1 antibodies.

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a rare, immune-mediated demyelinating disease of the central nervous system (CNS) that has a predilection for children. Its association with malignancy or other autoimmune diseases is unclear. We present a case of MOGAD in a teenager with a coincidental thyroid malignancy and elevated intracranial pressure.

Jeavons syndrome is a common, often misdiagnosed or overlooked epileptic syndrome presenting with a triad of eyelid myoclonia with or without absence seizures, eye closure-induced EEG paroxysms, and photosensitivity. We present a seven-year-old female who presented with eyelid myoclonia evident since birth with absence seizures and migraines with associated photosensitivity. An EEG with photic stimulation confirmed the diagnosis of Jeavons syndrome. Genetic testing showed a heterozygous mutation in the PLCB1 gene which has been linked to early onset epilepsies and encephalopathic epilepsies. This mutation and her clinical presentation identifies another etiology of Jeavons syndrome and confirms it can begin from birth. Its presence highlights the importance of genetic testing in epileptic patients to better understand the links between genetics and epilepsy syndromes so appropriate treatment can be initiated.

Social media has changed the way we communicate and interact. Unsurprisingly, it has also changed how we teach and learn. Younger generations of learners have transitioned from traditional educational sources to digital ones. Medical educators need to adapt to trends in medical education and develop fluency in the digital methods used by medical learners today. This is part two of a two-part series on social media and digital education in neurology. This article provides an overview of how social media can be used as a teaching tool in medical education and provides an overview in which it is grounded. We offer practical strategies on how social media can promote lifelong learning, educator development, educator support, and foster educator identity with accompanying neurology-specific examples. We also review considerations for incorporating social media into teaching and learning practices and future directions for integrating these tools in neurology education.

Chiari malformation is a clinico-radiological entity defined by herniation of rhombencephalic structures through the foramen magnum. The most common type, Chiari I, involves herniation of the cerebellar tonsils specifically. We present the case of a 2-year-old with three weeks of progressive bilateral leg weakness, absent reflexes, and the inability to walk. The patient was found to have Chiari I with hydrocephalus and syringomyelia. This is the youngest patient reported in the literature presenting with a clinical picture of spinal shock. Early recognition of this entity allows for proper treatment and improved outcomes.

Distinguishing abnormal electroencephalogram (EEG) waveforms from benign variants is critical for accurate interpretation of EEG. Hyperventilation (HV) is one of the basic procedures during EEG to enable activation of epileptiform activity. Rarely, HV can activate benign EEG rhythms. Herein, we illustrate two pediatric cases with bursts of rhythmic mid-temporal theta of drowsiness (RMTD), activated by hyperventilation. Continued awareness of this EEG phenomenology and its variations in pediatrics is important in avoiding misdiagnosis of epilepsy.

Alazami syndrome is a rare autosomal recessive neurodevelopmental disorder due to loss-of-function variants in the La ribonucleoprotein 7 (LARP7) gene. Children with Alazami syndrome are most often affected by a combination of primordial dwarfism, intellectual disability, and distinctive facial features. Previous cases have been primarily found in consanguineous families from the Middle East, Asia, and North Africa. We present a 21-month-old Caucasian male from the Midwest United States with nonconsanguineous parents who presented with frequently reported findings of unusual facial features, poor growth, cardiac and genitourinary findings, and developmental delay; less-frequently reported findings, including transient erythroblastopenia of childhood (TEC) and immune deficiency; and never-before reported findings of periventricular nodular heterotopia and stroke. He developed stroke during a hospitalization for Hemophilus influenzae meningitis. The possible contributions of LARP7 to TEC, immune deficiency, brain malformation, and stroke are discussed. Guidelines for the care of Alazami patients are proposed.

A 17-year-old female with sickle cell disease status post a recent stem cell transplant and on tacrolimus developed an acute expressive aphasia, dysphagia, and drooling. Brain MRI revealed diffuse restricted diffusion involving the bilateral corona radiata and areas of white matter in the right cerebral hemisphere most consistent with toxic leukoencephalopathy. Tacrolimus serum concentration was high at 19.3 ng/ml (ref 9-12 ng/ml) for which tacrolimus was discontinued. She was neurologically back at baseline 2 days later with the tacrolimus level improving to 8.2 ng/mL. Following discontinuation and the declining trend of her tacrolimus levels the patient returned to her neurologic baseline and was subsequently switched to mycophenolate mofetil for GVHD immunosuppression.

We present contactless technology measuring abnormal ventilation and compare it with polysomnography (PSG). A 13-years old girl with Pitt-Hopkins syndrome presented hyperpnoea periods with apneic spells. The PSG was conducted simultaneously with Emfit movement sensor (Emfit, Finland) and video camera with depth sensor (NEL, Finland). The respiratory efforts from PSG, Emfit sensor, and NEL were compared. In addition, we measured daytime breathing with tracheal microphone (PneaVox,France). The aim was to deepen the knowledge of daytime hyperpnoea periods and ensure that no upper airway obstruction was present during sleep. The signs of upper airway obstruction were not detected despite of minor sleep time. Monitoring respiratory effort with PSG is demanding in all patient groups. The used unobtrusive methods were capable to reveal breathing frequency and hyperpnoea periods. Every day diagnostics need technology like this for monitoring vital signs at hospital wards and at home from subjects with disabilities and co-operation difficulties.

Objective To compare the efficacy of melatonin, melatonin with sleep deprivation, and chloral hydrate with sleep deprivation on sleep induction in Asian children. Methods: For this randomized single-blind controlled trial, we recruited 45 children aged 1-5 years and older who were not cooperative on electroencephalogram (EEG) recordings, randomly allocated to three groups: melatonin (group A), melatonin and sleep deprivation (group B), or chloral hydrate and sleep deprivation (group C). Between-group comparisons were performed using the Kruskal-Wallis and Mann-Whitney U tests. Results: Stage II sleep was achieved in 92.8%, 100%, and 100% of participants in groups A, B, and C, respectively. Sleep latency was significantly shorter in Group C than in Groups A (p  =  .022) and B (p  =  .027), while Group C had better sleep efficacy than Groups A (p  =  .02) and B (p  =  .04). Conclusion: Melatonin with sleep deprivation is less effective at inducing sleep than combined chloralhydrate and sleep deprivation.