Atypical Brain MRI Findings in a Child With Delayed Diagnosis of Anti-N-Methyl-D-Aspartate Receptor Encephalitis.

Anti-N-methyl-D-aspartate receptor encephalitis (anti-NMDARE) is the most common cause of autoimmune encephalitis in children with a wide spectrum of clinical presentation and MRI findings. A high index of suspicion is required to avoid a delay in treatment and long-term morbidity. We present a healthy two-year-old male who developed fever and viral prodrome symptoms that rapidly progressed to acute encephalopathy, status epilepticus, quadriparesis, and abnormal movements. Brain MRI showed symmetric involvement of bilateral insula, posterior part of basal ganglia, and thalami. The patient survived the acute phase with supportive therapy but ended up with a devastating neurologic sequela, including developmental delay, inability to communicate, dysphagia, quadriparesis, and cortical visual impairment. Anti-N-methyl-D-aspartate (anti-NMDA) immunoglobulin G (IgG) antibodies were negative in serum and cerebrospinal fluid (CSF). The patient underwent an extensive inflammatory, infectious, metabolic, and genetic workup, including a whole-exome sequence (WES) and mitochondrial panel, which was unremarkable. CSF studies were unremarkable. Repeated anti-NMDA IgG antibodies were positive in serum a year after the presentation. This presentation highlights the crucial role of early immunotherapy in suspected autoimmune encephalitis (AE) cases, even at a young age, to prevent devastating neurologic outcomes. Moreover, clinicians should not rely on antibody results to treat a suspected case of AE due to possible false-negative test results, and the majority of AE cases remain without known antibodies.

Mitochondrial Myopathy, Encephalopathy, Lactic acidosis and Stroke-Like Episodes Syndrome Presenting With Anton-Babinski Syndrome and Concurrent Occipital Lobe Seizures.

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a complex group of disorders with multisystem involvement that have a wide range of biochemical and genetic defects. The earliest symptoms of MELAS typically include easy fatigability, muscle weakness, encephalopathy with stroke-like episodes, recurrent headaches and seizures. The pathogenesis of stroke-like episodes manifesting as focal deficits like acute cortical blindness is not fully understood. We present an eight-year-old, right-handed boy with MELAS confirmed by the presence of pathogenic missense variant mutation (mt.3243A>G) presenting with acute intermittent reversible episodes of cortical blindness and Anton-Babinski Syndrome secondary to concurrent occipital lobe seizures captured during video electroencephalography (V-EEG) monitoring, in addition to the neuro-imaging which was not consistent with acute ischemic stroke. This case highlights the importance of the V-EEG monitoring besides clinical testing and radiographic correlation during acute cortical blindness episodes in MELAS as occipital lobe seizures could be a part of the symptomatology.

Prediction of EEG Seizures in Critically Ill Children.

In a prospective observational study, investigators from the Children's Hospital of Philadelphia devised a predictive model for capturing electrographic seizures in critically ill pediatric patients.

Differential Diagnosis of Landau-Kleffner Syndrome Versus Post Encephalitis Syndrome in a 13-year-old Boy With Autism Spectrum Disorder.

Landau-Kleffner syndrome (LKS) is a rare childhood neurological condition that causes developmental regression, loss of language skills and abnormal electroencephalogram (EEG) patterns. Its etiology is unknown. This report describes a case of a 13-year-old boy who at 3.5 years of age was bitten by a tick. Two months thereafter, he began losing previously acquired developmental and language skills, and developed seizures. The seizures subsided with valproic acid treatment, but the developmental delays persisted. Family history and disease progression reports obtained from the patient's father revealed that the patient displayed repetitive behaviors prior to the age of three. Clinical observation also showed the patient having numerous repetitive vocalizations and movements along with difficulty with switching sets. His developmental age at the time of presentation was determined to be 3 to 4 years of age. During the course of diagnostic testing, we were able to rule out tick-borne encephalitis (TBE) and rule in LKS in a premorbidly autistic child. This case describes the similarities between the three conditions and the diagnostic investigations used to arrive at a final diagnosis.

An Unusual Presentation of a Cervical Paraspinal Leiomyoma in an Adolescent Female.

Objective We describe an apparently unique case of an extra-uterine leiomyoma in the cervical paraspinal tissue including its evaluation and management. Methods A 14-year-old girl was referred to the neurology clinic for an abnormal head CT following a concussion. MRI revealed a homogenously enhancing left cervical paraspinal mass. The patient underwent complete resection and subsequent genetic testing and counseling were obtained to determine the presence of Li-Fraumeni Syndrome (LFS) or Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) mutations. Result Histopathological examination proved that the tumor was a benign leiomyoma. Genomic testing for Fumarate Hydratase Gene, HLRCC, TP53 mutations or deletions, and LFS sequencing were negative. Further testing showed no immunosuppression. Conclusions To the best of our knowledge, this is the only case of paraspinal leiomyoma to have been reported to date. We emphasize the importance of considering immunosuppression, LFS, or HLRCC as an underlying cause in extra-uterine leiomyata.

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.

The 8p23.1 duplication syndrome is a relatively rare genomic condition that has been confirmed with molecular cytogenetic methods in only 11 probands and five family members. Here, we describe another prenatal and five postnatal patients with de novo 8p23.1 duplications analyzed with oligonucleotide array comparative genomic hybridization (oaCGH). Of the common features, mild or moderate developmental delays and/or learning difficulties have been found in 11/12 postnatal probands, a variable degree of mild dysmorphism in 8/12 and congenital heart disease (CHD) in 4/5 prenatal and 3/12 postnatal probands. Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele. The core duplication of 3.68 Mb contains 31 genes and microRNAs of which only GATA4, TNKS, SOX7, and XKR6 are likely to be dosage sensitive genes and MIR124-1 and MIR598 have been implicated in neurocognitive phenotypes. A combination of the duplication of GATA4, SOX7, and related genes may account for the variable penetrance of CHD. Two of the duplications were maternal and intrachromosomal in origin with maternal heterozygosity for the common inversion between the repeats in 8p23.1. These additional patients and the absence of the 8p23.1 duplications in published controls, indicate that the 8p23.1 duplication syndrome may now be considered a pathogenic copy number variation (pCNV) with an estimated population prevalence of 1 in 58,000.