RESUMEN
INTRODUCTION: Epilepsy is a neurological disorder characterized by the predisposition for recurrent unprovoked seizures. It can broadly be classified as focal, generalized, unclassified, and unknown in its onset. Focal epilepsy originates in and involves networks localized to one region of the brain. Generalized epilepsy engages broader, more diffuse networks. The etiology of epilepsy can be structural, genetic, infectious, metabolic, immune, or unknown. Many generalized epilepsies have presumed genetic etiologies. The aim of this study is to compare the role of genetic testing to brain MRI as diagnostic tools for identifying the underlying causes of idiopathic (genetic) generalized epilepsy (IGE). METHODS: We evaluated the diagnostic yield of these two categories in children diagnosed with IGE. Data collection was completed using ICD10 codes filtered by TriNetX to select 982 individual electronic medical records (EMRs) of children in the Penn State Children's Hospital who received a diagnosis of IGE. The diagnosis was confirmed after reviewing the clinical history and electroencephalogram (EEG) data for each patient. RESULTS: From this dataset, neuroimaging and genetic testing results were gathered. A retrospective chart review was done on 982 children with epilepsy, of which 143 (14.5%) met the criteria for IGE. Only 18 patients underwent genetic testing. Abnormalities that could be a potential cause for epilepsy were seen in 72.2% (13/18) of patients with IGE and abnormal genetic testing, compared to 30% (37/123) for patients who had a brain MRI with genetic testing. CONCLUSION: This study suggests that genetic testing may be more useful than neuroimaging for identifying an etiological diagnosis of pediatric patients with IGE.
RESUMEN
The exact prevalence of complementary and alternative medicine (CAM) use is not known in pediatric patients with neuromuscular diseases followed by any of the 150 Muscular Dystrophy Association (MDA) Care Center Clinics nationwide. This study describes the prevalence and variety of CAM usage in this population, while also assessing the prevalence of caregiver disclosure of CAM use and caregiver perception of provider support for CAM. Fifty-two caregivers of pediatric patients seen at Penn State Health's Pediatric MDA Care Center Clinic completed our online survey. Overall, 19.2% of caregivers reported CAM use by their child. Less than half of caregivers reported discussing CAM use with their child's neurologist (41.5%); however, a majority of respondents reported interest in using CAM for their child in the future (52.8%). Understanding the prevalence of CAM usage and disclosure in pediatric MDA clinics may facilitate safer use of CAM in this community.
Asunto(s)
Terapias Complementarias , Distrofias Musculares , Enfermedades Neuromusculares , Niño , Humanos , Encuestas y Cuestionarios , Enfermedades Neuromusculares/terapia , Distrofias Musculares/terapia , CuidadoresRESUMEN
(1) Background: Epilepsy is one of the most common chronic neurological disorders in childhood. Complementary and alternative medicine (CAM) use is highly prevalent in patients with epilepsy. Despite CAM's widespread and increasing popularity, its prevalence, forms, perceived benefits, and potential risks in pediatric epilepsy are rarely explored. (2) Methods: We performed a scoping review of the available literature on the use of CAM in pediatric epilepsy. (3) Results: Overall, global cross-sectional studies showed a variable degree of CAM usage among children with epilepsy, ranging from 13 to 44% in prevalence. Popular types of CAMs reported were supplements, cannabis products, aromatherapy, herbal remedies, dietary therapy, massage therapy, and prayer. Families often report that CAM is effective, although there are limited objective measures of this. Potential risks lie in the use of CAM, such as herbal remedies, and/or unregulated, contaminated, or unpurified products. Studies also underscored inadequate patient-physician discussions regarding CAM. (4) Conclusions: A better understanding of this topic would aid clinicians in guiding patients/families on the use of CAM. Further studies on the efficacy of the different types of CAM used, as well as potential side effects and drug interactions are needed.
RESUMEN
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.
RESUMEN
Autosomal recessive intellectual developmental disorder type 5 (MRT5, OMIM # 611091) is caused by biallelic pathogenic variants, leading to loss of function of the NSUN2 gene which encodes a methyltransferase involved in several biological processes, ranging from stress response to neurodevelopment (Hussain 2021). The current literature shows that MRT5 typically manifests with intellectual disability, facial dysmorphism, juvenile cataracts, chronic nephritis, hearing impairment, seizures, cerebellar atrophy, and microcephaly (Pingree et al. 2021). We describe a case of a patient with MRT5 who developed epilepsy in his teens, a rare clinical presentation that has not yet been discussed at length in the literature. Our patient is a 15-year-old male with a history of autism, developmental delay, and focal epilepsy who underwent genetic testing and was found to have a homozygous frameshift mutation in NSUN2 predicted to cause loss of function. This case emphasizes that epilepsy can be a phenotypic manifestation in patients with MRT5.
RESUMEN
Ketogenic diets (KDs) are highly effective in the treatment of epilepsy. However, numerous complications have been reported. During the initiation phase of the diet, common side effects include vomiting, hypoglycemia, metabolic acidosis and refusal of the diet. While on the diet, the side effects involve the following systems: gastrointestinal, hepatic, cardiovascular, renal, dermatological, hematologic and bone. Many of the common side effects can be tackled easily with careful monitoring including blood counts, liver enzymes, renal function tests, urinalysis, vitamin levels, mineral levels, lipid profiles, and serum carnitine levels. Some rare and serious side effects reported in the literature include pancreatitis, protein-losing enteropathy, prolonged QT interval, cardiomyopathy and changes in the basal ganglia. These serious complications may need more advanced work-up and immediate cessation of the diet. With appropriate monitoring and close follow-up to minimize adverse effects, KDs can be effective for patients with intractable epilepsy.
RESUMEN
BACKGROUND The relatively new autoimmune disorder, anti-myelin oligodendrocyte glycoprotein (MOG) disease is particularly interesting because of its broad range of presentations. This entity's appearance on magnetic resonance imaging (MRI) of the brain often makes identifying this disease a challenging process. Younger patients tend to present with an acute disseminated encephalomyelitis picture, with encephalopathy and multifocal neurological signs, while older patients are more likely to present with optic neuritis. We, however, report an atypical case of a patient who presented with encephalopathy, seizures, and significant cortical and subcortical gray matter involvement and was found to have anti-MOG positivity in serum. CASE REPORT A 17-month-old previously healthy boy presented to Emergency Department with fever, lethargy, vomiting, and left-sided weakness. Eventually, he required intubation due to a prolonged seizure. Continuous electroencephalogram captured several focal seizures, and MRI of the brain showed cortical and subcortical T2 hyperintensities. After extensive laboratory evaluation, he tested positive for anti-MOG antibody. He was empirically started on high-dose intravenous pulse methylprednisolone, followed by plasma exchange, given the poor response to the intravenous steroids. At the 5-month follow-up, the results of the neurological examination had dramatically improved, and MRI findings had largely resolved. CONCLUSIONS This case highlights the importance of suspecting anti-MOG antibody-mediated encephalitis, even while ruling out infectious etiologies, in children presenting with encephalopathy, seizures and MRI abnormalities. Prompt recognition would allow for less delay in treatment and hopefully improve prognosis.
Asunto(s)
Autoanticuerpos , Encefalitis , Encéfalo/diagnóstico por imagen , Encefalitis/diagnóstico , Humanos , Imagen por Resonancia Magnética , Masculino , Glicoproteína Mielina-Oligodendrócito , Oligodendroglía , ConvulsionesRESUMEN
Ophthalmoplegic migraine is considered to occur more commonly in children than in adults. It commonly affects the oculomotor nerve among the cranial nerves. Demyelination of the nerve is proposed as the main mechanism for the etiology of ophthalmoplegic migraine, though it is not fully understood. Neurovascular compression as a cause of ophthalmoplegic migraine has not been well demonstrated in children. In this report, we present a case of a 13-year-old male with recurrent episodes of left ophthalmoplegic migraine. Oculomotor nerve enhancement with swelling was evident on MRI at the exit zone. Magnetic resonance angiography (MRA) revealed a sharp loop of the left posterior cerebral artery compressing the nerve. The case highlighted the unusual etiology of neurovascular compression resulting in ophthalmoplegic migraine in a pediatric patient. A supplemental case of ophthalmoplegic migraine in a seven-year-old male is also shown to highlight the role of neurovascular compression and the importance of using MR angiography to evaluate cases presenting clinically with ophthalmoplegic migraine.
RESUMEN
Complementary and alternative medicine (CAM) use by the pediatric population with epilepsy in rural Pennsylvania was studied to characterize the prevalence, perceived effectiveness, and reasons for CAM use. This study additionally assessed the adequacy of parent-physician communication regarding CAM usage. A telephone survey was administered to 200 parents/caregivers of children with epilepsy followed at Hershey Medical Center. Thirteen percent of respondents indicated CAM use by their child. Common types of CAM used were cannabis-related products such as CBD oil and medical marijuana. Forty-eight percent of CAM users chose to initiate CAM owing to dissatisfaction with the outcomes of antiseizure drugs. Fifty-nine percent noticed a decrease in seizure frequency with CAM use, and more than 11% of CAM users reported side effects from CAM. Eighty percent of CAM users had discussions regarding CAM with their child's neurologist. CAM use was found to be associated with increased seizure severity (P = .004) and the prior use of cannabidiol (Epidiolex) (P < .001) or the ketogenic diet (P = .001). Increased seizure severity and the prior use of Epidiolex or the ketogenic diet may be used as predictors for the identification of patients with a higher likelihood of using CAM. Interest in future CAM use, especially cannabis-related products, was expressed in a large percentage of non-CAM users. Given the high parental or caregiver interest in CAM, providers are encouraged to be proactive in initiating discussions about CAM and collaborate with parents/caregivers to ensure the safe usage of CAM among pediatric patients.
Asunto(s)
Cannabidiol , Terapias Complementarias , Epilepsia , Cannabidiol/uso terapéutico , Niño , Epilepsia/tratamiento farmacológico , Humanos , Convulsiones/tratamiento farmacológico , Encuestas y CuestionariosRESUMEN
Pitt Hopkins-like syndrome 1 (PTHLS1, OMIM # 610042) is an ultra-rare autosomal recessive condition with a prevalence of <1/1,000,000. Intragenic deletions of CNTNAP2 has been implicated in PTHLS1, however to our knowledge a compound heterozygous deletion of exon 4 and a c.1977_1989del13; p.V660Ffsx9 frameshift variant have not been published previously. In this case report, the proband is a seven year old female with PTHLS1, developmental delay, autism spectrum disorder, focal epilepsy, hypotonia, refractory errors, strabismus, and obstructive sleep apnea. Whole exome sequencing analysis revealed biallelic pathogenic variants of the CNTNAP2 gene. Proband has a three year old sister who has who has a similar phenotype including, developmental delay, epilepsy, gait abnormality, refractory errors, strabismus. Family variants were tested and she shared the same CNTNAP2 variants as her sister. The sisters described highlight two novel variants leading to PTHLS1. Genetic workup is essential in identification and management guidance in these populations.
RESUMEN
Infection-induced acute encephalopathy 3 (IIAE3) is an autosomal dominant disease resulting from a pathogenic variant in the RANBP2 gene. IIAE3 results in the susceptibility to the recurrence of acute necrotizing encephalopathy (ANE1) which presents as bilateral symmetric thalamic, midbrain and/or hindbrain lesions that typically develops within 1-4 days post-acute viral infection, commonly occurring before age 6.1-6 These case reports highlight a retrospective analysis of clinical data and radiographic studies on 2 ANE1 cases from our institution. The novel p.Leu450Phe variant of the RANBP2 gene was analyzed using in silico algorithms (PolyPhen-2, SIFT, Mutationtaster) which suggests the p.Leu450Phe variant is probably deleterious.7 An expansion of documented ANE1 case presentations and clinically significant RANBP2 gene mutations has the potential to improve long term outcomes if more informed therapeutic decision making can be achieved.
RESUMEN
Multi-system Inflammatory Syndrome in Children (MIS-C) is a post infectious inflammatory syndrome following COVID infection. Previous case series have demonstrated that CNS involvement is less common and presents heterogeneously. The following case describes an infant with an initial presentation of refractory febrile status epilepticus. Genetic testing later showed multiple variants of uncertain significance. The patient met clinical criteria for MIS-C and had a markedly abnormal brain MRI with bilateral diffuse restricted diffusion (anterior > posterior). Clinically, the patient improved with pulse steroids and IVIg. This case highlights the importance of maintaining MIS-C in the differential as a trigger of Febrile Infection Related Epilepsy Syndrome (FIRES) with multi-organ involvement presenting 2-4 weeks after infectious symptoms and COVID exposure.
RESUMEN
We report a rare case of cardioembolic stroke in the setting of supraventricular tachycardia (SVT) in an infant. After a week of irritability, a 10-week-old male presented to the emergency department with SVT requiring treatment with adenosine. He developed right-sided hemiparesis and focal motor seizures. Imaging of the brain showed ischemic infarct in the left middle cerebral artery (MCA) territory. Echocardiogram showed a newly formed large left atrial intracardiac thrombus. A coagulopathy workup was negative. He was treated with beta-blocker and anticoagulation therapy. He had mild residual right hemiparesis. During childhood, he developed medically refractory focal epilepsy from the left hemisphere, requiring epilepsy surgery at age 10. A child presenting with sustained SVT can be at increased risk for intracardiac thrombi and stroke.
RESUMEN
Since the first reports of SARS-CoV-2 infection from China, multiple studies have been published regarding the epidemiologic aspects of COVID-19 including clinical manifestations and outcomes. The majority of these studies have focused on respiratory complications. However, recent findings have highlighted the systemic effects of the virus, including its potential impact on the nervous system. Similar to SARS-CoV-1, cellular entry of SARS-CoV-2 depends on the expression of ACE2, a receptor that is abundantly expressed in the nervous system. Neurologic manifestations in adults include cerebrovascular insults, encephalitis or encephalopathy, and neuromuscular disorders. However, the presence of these neurologic findings in the pediatric population is unclear. In this review, the potential neurotropism of SARS-CoV-2, known neurologic manifestations of COVID-19 in children, and management of preexisting pediatric neurologic conditions during the COVID-19 pandemic are discussed.
Asunto(s)
COVID-19/complicaciones , COVID-19/terapia , Enfermedades del Sistema Nervioso/terapia , Enfermedades del Sistema Nervioso/virología , Adolescente , Factores de Edad , Niño , Preescolar , Humanos , Lactante , Recién NacidoRESUMEN
BACKGROUND: Seizures are an under-reported feature of the SATB2-associated syndrome phenotype. We describe the electroencephalographic findings and seizure semiology and treatment in a population of individuals with SATB2-associated syndrome. METHODS: We performed a retrospective review of 101 individuals with SATB2-associated syndrome who were reported to have had a previous electroencephalographic study to identify those who had at least one reported abnormal result. For completeness, a supplemental survey was distributed to the caregivers and input from the treating neurologist was obtained whenever possible. RESULTS: Forty-one subjects were identified as having at least one prior abnormal electroencephalography. Thirty-eight individuals (93%) had epileptiform discharges, 28 (74%) with central localization. Sleep stages were included as part of the electroencephalographies performed in 31 individuals (76%), and epileptiform activity was recorded during sleep in all instances (100%). Definite clinical seizures were diagnosed in 17 individuals (42%) with a mean age of onset of 3.2 years (four months to six years), and focal seizures were the most common type of seizure observed (42%). Six subjects with definite clinical seizures needed polytherapy (35%). Delayed myelination and/or abnormal white matter hyperintensities were seen on neuroimaging in 19 individuals (61%). CONCLUSIONS: Epileptiform abnormalities are commonly seen in individuals with SATB2-associated syndrome. A baseline electroencephalography that preferably includes sleep stages is recommended during the initial evaluation of all individuals with SATB2-associated syndrome, regardless of clinical suspicion of epilepsy.
Asunto(s)
Epilepsia , Enfermedades Genéticas Congénitas , Proteínas de Unión a la Región de Fijación a la Matriz/genética , Malformaciones del Sistema Nervioso , Trastornos del Sueño-Vigilia , Factores de Transcripción/genética , Adolescente , Adulto , Edad de Inicio , Niño , Preescolar , Electroencefalografía , Epilepsia/diagnóstico , Epilepsia/etiología , Epilepsia/genética , Epilepsia/fisiopatología , Femenino , Enfermedades Genéticas Congénitas/complicaciones , Enfermedades Genéticas Congénitas/diagnóstico , Enfermedades Genéticas Congénitas/genética , Enfermedades Genéticas Congénitas/fisiopatología , Humanos , Lactante , Masculino , Malformaciones del Sistema Nervioso/diagnóstico , Malformaciones del Sistema Nervioso/etiología , Malformaciones del Sistema Nervioso/genética , Malformaciones del Sistema Nervioso/fisiopatología , Estudios Retrospectivos , Fases del Sueño/fisiología , Trastornos del Sueño-Vigilia/diagnóstico , Trastornos del Sueño-Vigilia/etiología , Trastornos del Sueño-Vigilia/genética , Trastornos del Sueño-Vigilia/fisiopatología , Síndrome , Adulto JovenRESUMEN
INTRODUCTION: Tourette syndrome is a neuropsychiatric condition defined by motor and phonic tics with onset in childhood. Many families have concerns regarding potential side effects of pharmacologic treatments, and often have difficulty accessing comprehensive behavioral intervention for tics. Patients and caregivers may turn to complementary and alternative medicine (CAM) as they perceive these as "natural" and therefore "safe." Although there are anecdotal reports of an increased use of CAM in Tourette syndrome patients, the exact prevalence is unknown. OBJECTIVE: The purpose of this study was to identify commonly used CAM therapies for children with Tourette syndrome at Penn State Hershey Medical Center. METHODS: A questionnaire was administered to the caregivers of children (<18 years old) via telephone. The data pertaining to demographics, type of CAM use, duration of use, adverse effects, and caregiver's perception of the effectiveness were collected. RESULTS: A total of 110 patients participated in this survey. When inquired about the different CAM methods, 69.1% of the participants reported using 1 or more CAM therapies, and 58% of those who used CAM informed the doctor about their use. Ninety-three percent of those who used CAM therapy reported a decrease in tic frequency. The most commonly used CAM therapies were stress management (44.6%), herbal medicine (18.2%), homeopathy (12.7%), and meditation (9.1%). In total, 46% of the participants said that CAM helped more than medication. CONCLUSION: The majority of patients interviewed were using CAM therapies, and a significant portion reported benefit greater than medication. More than half of all participants discussed CAM therapies with their physicians, and 63% of participants felt that their physicians would support their use of CAM therapies.
Asunto(s)
Terapias Complementarias/métodos , Síndrome de Tourette/terapia , Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , Encuestas y CuestionariosRESUMEN
BACKGROUND/AIMS: Intrathecal baclofen (ITB) therapy is useful in treating spasticity and dystonia but it has many complications, more so in children. The main aim of the study was to look at the complications of ITB pumps in children with the goal of future prevention. METHODS: Charts of all patients ≤21 years with an ITB pump, implanted by a single pediatric neurosurgeon, at a single center, between 1996 and 2011 were reviewed retrospectively. Data regarding an ITB test trial were also recorded. RESULTS: During 1996-2011, 119 children (mean age 13.2 years) underwent ITB pump placement; 84% had spastic quadriplegic cerebral palsy. The gross motor function classification system level was ≥4 for most. The pump was removed in 5 (4.2%) patients due to inefficacy. The mean follow-up was 38 months. Mechanical complications requiring pump and/or catheter revision occurred in 19.3% and infections in an additional 21.8%. Seven patients (6%) had meningitis. No complication was noted after 72 months of initial pump insertion, even after pump reinsertion. CONCLUSION: There is a need for better infection control as well as better pump, catheter and surgical technology to lower the complications of ITB pumps in children.