Child neurology open最新文献

Background: West syndrome (WS) is a frequent epileptic encephalopathy associated with Down syndrome (DS). This study evaluated an outpatient protocol for WS in patients with DS who received vigabatrin (VGB) or VGB plus adrenocorticotrophic hormone. Methods: We analyzed infants treated in two neuropediatric centers from 2001-2021. We reviewed perinatal and familial history of epilepsy, spasm onset, treatment lag, electroencephalogram, neuroimaging, progression to epilepsy, and other neurological conditions. The outcomes were electroclinical resolution (ECR), relapses, and epilepsy progression. Results: Nineteen infants were included; 57.8% were male. The average spasm onset, follow-up, and treatment lag were 6.4 months, 8.15 years, and 2.33 months, respectively. Almost 74% had ECR after protocol intervention and minor epilepsy progression. Relapses occurred during combined therapy. Conclusions: The treatment protocol, especially combined therapy, was effective for WS in DS, impacting epilepsy progression and indicating the effectiveness of combined therapy to treat WS in patients with trisomy 21.

Introduction: Neurofibromatosis type 1(NF-1) is the commonest neurocutaneous phacomatosis in children. Epilepsy is an infrequent comorbidity. Reports of seizure and Electroencephalogram (EEG) characteristics in children are sparse. Methods: A retrospective review was performed on patients with NF-1 seen between 2016-2020. Patients with co-existing epilepsy were identified. Demographic, clinical, radiological and neurophysiological data were reviewed and analyzed. Results: Out of 118 children with NF1, 16 had epilepsy. 11 patients had focal onset seizures, whereas 5 had generalized onset seizures. Most patients had easy seizure control. Focal epileptiform discharges were the most prevalent EEG abnormality. There was no significant correlation between seizure patterns and presence of intracranial tumors. Conclusion: Epilepsy is a relatively uncommon in pediatric NF-1. Seizures are often of focal semiology and likely to be easily controlled. Focal and multifocal spike epileptiform discharges are the typical interictal EEG findings. Correlation of clinical and EEG findings with intracranial lesions is poor.

Introduction: Sturge-Weber syndrome (SWS) is often associated with drug resistant epilepsy. The literature is unclear as to how often these patients can be weaned off of antiepileptic drugs (AEDs) to become seizure-free. Case Description: We describe two patients with SWS. After initial treatment with various AEDs, breakthrough seizures still occurred. However, after periods with no seizure activity, they were weaned off of their medications. They have been off for 4 and 3 years and seizure-free for 13 and 12 years, respectively. No surgical procedure was necessary. Conclusion: We hypothesize that spontaneous involution or pathological disconnection of the vascular malformations might underly the patients' recovery. The initial aggressive therapy, close follow-up, choice of AEDs, or natural evolution of the disease may have played a role in their recovery. Therefore, in patients with SWS and lesional structural epilepsy, medication freedom is possible and invasive management options including surgery should be discussed carefully.

Lafora disease is a rare refractory epilepsy that results in death. This report highlights two cases of lafora disease and introduces a novel mutation in the patients. A review of the pathophysiology and future therapies is reviewed.

Introduction: Cefepime, a fourth-generation cephalosporin, is known to risk the induction of neurotoxic impairment from confusion to nonconvulsive status epilepticus (NCSE). Neurotoxic effects of cefepime are most commonly evident in the setting of impaired renal function in adults; however, are rarely present in those with normal renal excretion function or in the pediatric population. Case: We present a case of a 16-year-old female with a complicated past medical history but no accounts of impaired renal function yet, after starting cefepime, presented with encephalopathy, intermittent stimulus-induced posturing, and was found to have NCSE. Discontinuation of cefepime and administration of additional antiepileptics provided significant improvement in EEG and allowed the patient to return to baseline within two days. Conclusion: Cefepime-induced nonconvulsive status epilepticus should be considered in any patient with or without impaired renal function that shows acute changes in mental status, and/or reduced consciousness, after initiating cefepime treatment.

We present a case of a 3-year-old girl who rapidly developed bilateral facial palsy, dysphagia, dysphonia, areflexia, and ataxia soon after receiving an influenza vaccine. Brain and spine Magnetic resonance imaging (MRI) scans with and without contrast showed enhancement of cranial nerves III, V, VII, and X, as well as the anterior and posterior cervical spinal and cauda equina roots. cerebrospinal fluid (CSF) studies showed white blood cell count of 19 cells/cm², glucose 81 mg/dL, and protein 116 mg/dL, with negative infectious and autoimmune labs. Serum IgM and IgG antibodies against GM1, GD1a, GD1b, GM2, GT1A, GQ1b were negative. The patient was treated with intravenous immunoglobulin, which led to a full recovery. Upon three-month follow-up, her neurologic examination demonstrated normal cranial nerves, reflexes, and gait. Her presentation was most consistent with the acute bulbar palsy plus (ABPp) variant of Guillain-Barré syndrome (GBS), a rare and challenging diagnosis especially in her age group.

The neurological symptoms of pediatric mild encephalopathy/encephalitis with a reversible splenial lesion (MERS) are mild and have a good prognosis. However, some aspects of neonatal MERS are unclear due to a lack of clinical knowledge. We present a neonatal case of MERS with features of poor activity and prolonged poor oxygenation after birth without asphyxia. He was diagnosed with MERS by brain magnetic resonance imaging (MRI) on day10, because the diffusion restriction of the splenium of the corpus callosum (SCC) seen on diffusion-weighted MRI on day 5 was attenuating. He was discharged due to good progress on day 26, but growth issues and developmental delay were observed in the follow up from 1-10 months. In rare neonatal cases, many aspects of the clinical course and prognosis are thus unclear. MERS should be considered in newborns who show unexplained non-neural or other encephalopathic symptoms.

Background: Lesch-Nyhan disease (LND) is a rare x-linked purine metabolic neurogenetic disease caused by enzyme hypoxanthine-guanine phosphoriribosyltransferase(HGprt) deficiency, also known as self-destructive appearance syndrome. A series of manifestations are caused by abnormal purine metabolism. The typical clinical manifestations are hyperuricemia, growth retardation, mental retardation, short stature, dance-like athetosis, aggressive behavior, and compulsive self-harm. Methods: We identified a point mutation c.151C > T (p. Arg51*) in a pedigree. We analyzed the clinical characteristics of children in a family, and obtained the blood of their parents and siblings for second-generation sequencing. At the same time, we also analyzed and compared the expression of HPRT1 gene and predicted the three-dimensional structure of the protein. And we analyzed the clinical manifestations caused by the defect of the HPRT1 gene. Results: The mutation led to the termination of transcription at the 51st arginine, resulting in the production of truncated protein, and the relative expression of HPRT1 gene in patients was significantly lower than other family members and 10 normal individuals. Conclusion: This mutation leads to the early termination of protein translation and the formation of a truncated HPRT protein, which affects the function of the protein and generates corresponding clinical manifestations.

Hereditary sensory and autonomic neuropathies (HSAN) are rare, genetically inherited disorders characterized by impaired unmyelinated nerve fiber function. Here we report a patient with self-mutilation behavior and decreased response to pain, suggestive of an underlying small fiber neuropathy. Nerve conduction studies were normal but sympathetic skin response was absent at the left arm. Intradermal histamine challenge test was performed to evaluate the function of small unmyelinated nerve fibers and revealed absence of a flare response. Using whole genome sequencing, a novel variant in the neurotrophic tyrosine kinase type 1 gene was identified, expanding the known disease-causing variants associated with HSAN type 4. Through this case, we demonstrate the role of the histamine challenge test in patients suspected to have a small fiber neuropathy where electrophysiological testing may be normal and who may present with non-specific symptoms including hypotonia and failure to thrive. The information gained can guide genetic testing and contribute to interpretation of new variants identified.

Social media has become a part of everyday life. It has changed the way we obtain and distribute information, connect, and interact with others. As the number of platforms and users grow, medical professionals have learned the value social media can have in education, research, advocacy, and clinical care initiatives. Platforms provide opportunities to network, build collaborations, and develop a reputation. This is part one of a two-part series. This article provides an overview on how social media can benefit professional career development for clinicians and researchers, as well as for advocacy to raise awareness against biases, disparities, and for patient benefit. We review challenges, limitations, and best practices for social media use by medical professionals with neurology-specific examples.