DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia [0.03%]
表现为青少年起病感觉神经病、痉挛、肌张力障碍和共济失调的DNM1L变异
Alexander S Wang,Gabrielle Lemire,Grace E VanNoy et al.
Alexander S Wang et al.
DMN1L encodes for dynamin-like protein 1 (DLP1) which plays a key role in perixosomal and mitochondrial fission. Individuals with heterozygous variants in DNM1L present with a wide range of neurologic symptoms, including encephalopathy, epi...
Rare Spontaneous Attenuation of Childhood Inflammatory Cerebral Adrenoleukodystrophy [0.03%]
儿童炎症性脑肾上腺白质营养不良自发缓解的罕见病例
Hyoung Won Choi,Gerald Vincent Raymond,Weston Miller
Hyoung Won Choi
X-linked adrenoleukodystrophy (ALD) is a neurodegenerative peroxisomal disorder with variable clinical phenotypes. Childhood cerebral ALD (CCALD) is at the most severe end of the disease spectrum. In CCALD, the clinical manifestations inclu...
Jean K Mah,Yi-Wen Chen
Jean K Mah
Facioscapulohumeral dystrophy is one of the most common forms of muscular dystrophies worldwide. It is a complex and heterogeneous disease secondary to insufficient epigenetic repression of D4Z4 repeats and aberrant expression of DUX4 in sk...
Brain derived neurotrophic factor and serotonin transporter binding as markers of clinical response to fluoxetine therapy in children with autism [0.03%]
血清脑源性神经营养因子和五羟色胺转运蛋白结合标志自闭症患儿氟西丁疗效的研究
Ismo Makkonen,Raili Riikonen,Jyrki T Kuikka et al.
Ismo Makkonen et al.
Fluoxetine, a selective serotonin reuptake inhibitor (SSRI), has shown favorable effects in some children with autism. There are no previous studies evaluating the connection between clinical outcome and markers of clinical response to fluo...
Neurodevelopmental outcomes in children with Down syndrome and infantile spasms [0.03%]
婴儿痉挛性障碍伴唐氏综合征儿童的神经发育结局
Sarah Tapp,Tovi Anderson,Jeannie Visootsak
Sarah Tapp
Down syndrome (DS) is the most common genetic cause of intellectual disability in the United States. The prevalence of seizure in individuals with DS is 1-13%, and infantile spasm (IS) occurs in 6-32% of those with seizures. Since IS is rel...
Lenticulostriate vasculopathy in extremely low gestational age newborns: Inter-rater variability of cranial ultrasound readings, antecedents and postnatal characteristics [0.03%]
极早早产儿豆状核 striato-lenticular 血管病的超声诊断、发病因素及出生后临床特点分析
Julide Sisman,J Wells Logan,Sjirk J Westra et al.
Julide Sisman et al.
Although lenticulostriate vasculopathy (LSV) was first detected on a cranial ultrasound nearly 30 years ago, its clinical implications and significance remain unknown. The objective of this study was to evaluate the inter-rater reliability ...
Implications of delayed diagnosis of infantile spasm in a child with Down syndrome [0.03%]
唐氏综合征患儿诊断婴儿痉挛延迟的启示
Allison Buterbaugh,Jeannie Visootsak
Allison Buterbaugh
Trisomy 21, leading to Down syndrome (DS) is the most common genetic cause of intellectual disability. Approximately 1-13% of children with DS have co-morbid seizures, with infantile spasm being the most frequent type of seizure identified....
Amy Smith,Nicholas A V Beare,Crispin O Musumba et al.
Amy Smith et al.
Raised intracranial pressure is a feature of cerebral malaria in children living in Africa. We investigated specific clinical optic disc features of papilledema to establish their prognostic significance in this encephalopathy. We developed...
Developmental outcomes of Down syndrome and Dandy-Walker malformation [0.03%]
Down综合征和Dandy-Walker畸形的发育结局
Kaitlin Love,Lillie Huddleston,Pat Olney et al.
Kaitlin Love et al.
Dandy-Walker syndrome (DWS), or Dandy-Walker complex, is a congenital brain malformation of the posterior fossa, typically resulting in developmental delay and cognitive disability. The co-occurrence of Down syndrome (DS) and DWS is relativ...
Frances E Jensen
Frances E Jensen
Neonatal seizures are inherently different from seizures in the child and the adult. The phenotype, often exhibiting electroclinical dissociation, is unique: neonatal seizures can be refractory to antiepileptic drugs otherwise effect for ol...