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1.
Ann Neurol ; 2023 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-37638552

RESUMO

OBJECTIVE: This study was undertaken to test the hypothesis that early vigabatrin treatment in tuberous sclerosis complex (TSC) infants improves neurocognitive outcome at 24 months of age. METHODS: A phase IIb multicenter randomized double-blind placebo-controlled trial was conducted of vigabatrin at first epileptiform electroencephalogram (EEG) versus vigabatrin at seizure onset in infants with TSC. Primary outcome was Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) cognitive assessment score at 24 months. Secondary outcomes were prevalence of drug-resistant epilepsy, additional developmental outcomes, and safety of vigabatrin. RESULTS: Of 84 infants enrolled, 12 were screen failures, 4 went straight to open label vigabatrin, and 12 were not randomized (normal EEG throughout). Fifty-six were randomized to early vigabatrin (n = 29) or placebo (n = 27). Nineteen of 27 in the placebo arm transitioned to open label vigabatrin, with a median delay of 44 days after randomization. Bayley-III cognitive composite scores at 24 months were similar for participants randomized to vigabatrin or placebo. Additionally, no significant differences were found between groups in overall epilepsy incidence and drug-resistant epilepsy at 24 months, time to first seizure after randomization, and secondary developmental outcomes. Incidence of infantile spasms was lower and time to spasms after randomization was later in the vigabatrin group. Adverse events were similar across groups. INTERPRETATION: Preventative treatment with vigabatrin based on EEG epileptiform activity prior to seizure onset does not improve neurocognitive outcome at 24 months in TSC children, nor does it delay onset or lower the incidence of focal seizures and drug-resistant epilepsy at 24 months. Preventative vigabatrin was associated with later time to onset and lower incidence of infantile spasms. ANN NEUROL 2023.

2.
Children (Basel) ; 10(1)2023 Jan 04.
Artigo em Inglês | MEDLINE | ID: mdl-36670656

RESUMO

The integration of precision medicine in the care of hospitalized children is ever evolving. However, access to new genomic diagnostics such as rapid whole genome sequencing (rWGS) is hindered by barriers in implementation. Michigan's Project Baby Deer (PBD) is a multi-center collaborative effort that sought to break down barriers to access by offering rWGS to critically ill neonatal and pediatric inpatients in Michigan. The clinical champion team used a standardized approach with inclusion and exclusion criteria, shared learning, and quality improvement evaluation of the project's impact on the clinical outcomes and economics of inpatient rWGS. Hospitals, including those without on-site geneticists or genetic counselors, noted positive clinical impacts, accelerating time to definitive treatment for project patients. Between 95-214 hospital days were avoided, net savings of $4155 per patient, and family experience of care was improved. The project spurred policy advancement when Michigan became the first state in the United States to have a Medicaid policy with carve-out payment to hospitals for rWGS testing. This state project demonstrates how front-line clinician champions can directly improve access to new technology for pediatric patients and serves as a roadmap for expanding clinical implementation of evidence-based precision medicine technologies.

3.
Pediatr Radiol ; 51(3): 485-488, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33000323

RESUMO

Biotin-thiamine-responsive encephalopathy, also known as biotin-responsive basal ganglia disease, is characterized by high T2 signal in the basal ganglia (caudate and putamina), which is reported as a typical feature of the disorder. Brain magnetic resonance imaging in our patient, who presented with irritability, poor feeding and prolonged seizures, found multiple areas of restricted diffusion in the cerebral cortex and thalami leading to an initial diagnosis of a mitochondrial disorder. The basal ganglia were not affected. More characteristic chronic findings of T2 prolongation and volume loss were later seen in our patient. The child improved with biotin and thiamine supplementation, a well-known feature of the condition. It is important for the radiologist and treating team to be aware of this variant and pursue further investigations to avoid delay in care and potential fatality.


Assuntos
Doenças dos Gânglios da Base , Biotina , Gânglios da Base/diagnóstico por imagem , Doenças dos Gânglios da Base/diagnóstico por imagem , Doenças dos Gânglios da Base/tratamento farmacológico , Criança , Humanos , Imageamento por Ressonância Magnética , Proteínas de Membrana Transportadoras/genética , Proteínas de Membrana Transportadoras/metabolismo , Mutação , Tiamina/uso terapêutico
4.
Epileptic Disord ; 21(1): 112-116, 2019 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-30767894

RESUMO

Dynamin-1-like protein (DNM1L) gene variants have been linked to childhood refractory epilepsy, developmental delay, encephalopathy, microcephaly, and progressive diffuse cerebral atrophy. However, only a few cases have been reported in the literature and there is still a limited amount of information about the symptomatology and pathophysiology associated with pathogenic variants of DNM1L. We report a 10-year-old girl with a one-year history of mild learning disorder and absence seizures who presented with new-onset focal status epilepticus which progressed to severe encephalopathy and asymmetric hemispheric cerebral atrophy. Differential diagnosis included mitochondrial disease, Rasmussen's encephalitis, and autoimmune encephalitis. Disease progressed from one hemisphere to the other despite anti-seizure medications, hemispherectomy, vagus nerve stimulator, ketogenic diet, and immunomodulators. Continued cerebral atrophy and refractory seizures evolved until death four years after initial presentation. Post-mortem whole-exome sequencing revealed a pathogenic DNM1L variant. This paper presents a novel case of adolescent-onset DNM1L-related intractable epilepsy and encephalopathy.


Assuntos
Doenças Autoimunes do Sistema Nervoso , Epilepsia Resistente a Medicamentos , Encefalite , GTP Fosfo-Hidrolases/genética , Proteínas Associadas aos Microtúbulos/genética , Proteínas Mitocondriais/genética , Adolescente , Doenças Autoimunes do Sistema Nervoso/diagnóstico , Doenças Autoimunes do Sistema Nervoso/genética , Doenças Autoimunes do Sistema Nervoso/imunologia , Doenças Autoimunes do Sistema Nervoso/fisiopatologia , Progressão da Doença , Epilepsia Resistente a Medicamentos/diagnóstico , Epilepsia Resistente a Medicamentos/genética , Epilepsia Resistente a Medicamentos/imunologia , Epilepsia Resistente a Medicamentos/fisiopatologia , Dinaminas , Encefalite/diagnóstico , Encefalite/genética , Encefalite/imunologia , Encefalite/fisiopatologia , Evolução Fatal , Feminino , Humanos
5.
Pediatrics ; 139(1)2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-27940505

RESUMO

A 14-year-old previously healthy female was transferred from a local emergency department after being found unresponsive at home. Parental questioning revealed she had fever and pharyngitis 2 weeks before presentation. Past mental health history was negative, including concern for past or present suicidal ideation/attempts, suspected substance use, or toxic ingestion. In the emergency department, she was orotracheally intubated due to a Glasgow Coma Scale of 3. She was hemodynamically stable and euglycemic. Electrocardiogram showed sinus tachycardia. She underwent a noncontrast head computed tomography that was normal and subsequently underwent a lumbar puncture. She had a seizure and was given a loading dose of diazepam and fosphenytoin that led to cessation of extremity movements. She was subsequently transferred to the PICU for additional evaluation. Initial examination without sedation or analgesia demonstrated dilated and minimally responsive pupils, intermittent decorticate posturing, and bilateral lower extremity rigidity and clonus, consistent with a Glasgow Coma Scale of 5. Serum studies were unremarkable with the exception of mild leukocytosis. Chest radiograph only showed atelectasis. She was empirically started on antibiotics to cover for meningitis pending final cerebral spinal fluid test results. The pediatric neurology team was consulted for EEG monitoring, and the patient was eventually sent for computed tomography angiogram and magnetic resonance angiogram/venogram. We will review diagnostic evaluation and management of an adolescent patient with acute encephalopathy with decorticate posturing of unclear etiology.


Assuntos
Encefalopatia Aguda Febril/induzido quimicamente , Encefalopatia Aguda Febril/etiologia , Encefalopatia Aguda Febril/terapia , Amitriptilina/análogos & derivados , Bupropiona/toxicidade , Estado de Descerebração/induzido quimicamente , Estado de Descerebração/etiologia , Síndrome da Serotonina/diagnóstico , Tentativa de Suicídio , Cloridrato de Venlafaxina/toxicidade , Encefalopatia Aguda Febril/diagnóstico por imagem , Adolescente , Amitriptilina/toxicidade , Encéfalo/diagnóstico por imagem , Estado de Descerebração/diagnóstico por imagem , Diagnóstico Diferencial , Serviço Hospitalar de Emergência , Feminino , Escala de Coma de Glasgow , Humanos , Unidades de Terapia Intensiva Pediátrica , Comunicação Interdisciplinar , Colaboração Intersetorial , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Automedicação , Tentativa de Suicídio/prevenção & controle , Tomografia Computadorizada por Raios X
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