Bilateral Optic Neuritis Caused by Meningococcal Meningoencephalitis

In this article, we described a case of pathogen-induced bilateral optic neuritis accompanying meningococcal meningoencephalitis in an adolescent male. A 15-year-old boy presented to our emergency room due to progressive severe headache, stiff neck, diffuse extremity pain, fever, and nausea concerning meningoencephalitis. Intravenous ceftriaxone, metamizole, and ondansetron were started immediately. Due to acute autonomic dysregulation and development of petechiae, he was transferred to the pediatric intensive care unit. Next morning, the patient developed severe visual impairment. Investigations revealed elevated C-reactive protein, procalcitonin and leucocyte count, decreased platelet count, and clotting activation. Cerebrospinal fluid (CSF) analysis revealed increased leucocyte count, protein, and decreased glucose concentration with pathological CSF cytology. Brain magnetic resonance imaging revealed an increased contrast enhancement in the optic nerve sheath, consistent with acute bilateral optic neuritis. He was started on high-dose intravenous pulse methylprednisolone therapy. After treatment with ceftriaxone und pulse steroids, the patient was discharged in good condition without any visual sequel.

A Novel Heterozygous ANO3 Mutation in a Child Presenting Tremor with Dystonia and Review of the Literature

Mutations in ANO3 have recently been identified as an autosomal dominant cause of dystonia (dystonia-24). Since then, the phenotypic spectrum has also been extended in children. Here, we reported a case of a 10-year-old Turkish girl child patient with a novel variant (NM_001313726: c.221dupA, p.Tyr74*), who exhibited tremor with mild dystonia. This report expands the phenotype caused by ANO3 variants and reveals an essential clinical aspect for patients and medical staff.

Stroke-Like Migraine after Radiation Treatment Syndrome in Children with Cancer

Stroke-like migraine attacks after radiation therapy (SMART) syndrome is a symptom complex of transient neurological deficits, headache, and abnormal cortical contrast enhancement on brain MRI. Pathophysiology is unclear, but exposure to cranial radiation (RT) is a sine qua non. We report five children with SMART syndrome treated with RT therapy for medulloblastoma (n = 3), atypical teratoid rhabdoid tumor (n = 1), and pleomorphic xanthoastrocytoma (n = 1). Median age at tumor diagnosis was 9.4 years (range 5.1–14.7). Median follow-up from cancer diagnosis was 3.1 years (range 1.4–12.9). All patients had 54 Gy focal RT treatment and medulloblastoma children had additional 36 Gy craniospinal irradiation. Median time from the end of RT to first transient neurological deficit was 1 year (range 0.7–12.1). The median follow-up since first SMART episode was 0.6 years (range 0.3–2.6). Presenting symptoms included the gradual development of unilateral weakness (n = 4), non-fluent dysphasia (n = 1), somnolence (n = 1), and headaches (n = 3). Neurological deficits resolved within 30 minutes to 10 days. Transient cortical enhancement on magnetic resonance imaging (MRI) was confirmed in two children and was absent in the other three. Two children had a single and three had multiple episodes over the next few months. Two children with protracted symptoms responded to 3 days treatment with high dose intravenous methylprednisolone. Symptoms ultimately resolved in all patients. SMART syndrome is a rare disorder characterized by slow evolution of neurological deficits with variable abnormal cortical contrast enhancement. The use of steroids may improve symptoms and speed resolution.

Laterotrusion (Side to Side) and Protrusion/Retraction Difficulty of Tongue in Two Children with Wilson's Disease

Involvement of tongue is uncommon in Wilson's disease (WD) in early stages. This is usually seen late when the patient has an established neurological WD associated with dyskinesia, dystonia, and tremors. In this article, we presented two children with tongue involvement in which there were slow laterotrusion (side to side) and protrusion and retraction movements. In the first child this was the early and only manifestation without any other neurological features while in the second child this was seen in a previously diagnosed WD. Slow tongue movements in any child with or without extrapyramidal features should be investigated to rule out a treatable condition like WD. Tongue involvement is common in children with different neurological/neuromuscular diseases, drugs, and other unknown conditions.

Neuroendoscopic Navigated One-Step Removal of Crossed Ventricular Catheter Fragments: Technical Note

Introduction Neuroendoscopy plays an important role in minimally invasive neurosurgery. The authors reported an interesting case of a pediatric patient with multiple ventriculoperitoneal shunt (VPS) revision surgeries, presenting with VPS infection and with two crossed intraventricular floating catheter fragments, successfully removed through a neuroendoscopic navigated one-step procedure. A literature review regarding this exceedingly rare condition has also been discussed. Case Description An 11-year-old female patient with a history of congenital hydrocephalus was admitted to the emergency department with symptoms of intracranial hypertension, psychomotor agitation, and tetraparesis. She had a history of previous multiple VPS revisions. She had an urgent brain computed tomography scan that documented hydrocephalus; the VPS's intraventricular catheter tip was sited at the level of the right frontal horn. Two small floating catheter fragments, not connected to the VPS, were identified: the first close to the right lateral ventricle at the level of the right occipital horn, the second one between the right occipital horn and the third ventricle. First, she underwent an exteriorization of the distal catheter for VPS. Cerebrospinal fluid examination documented hyperproteinorrachia and a positive culture for Staphylococcus aureus. Then a navigated right transfrontal endoscopic approach to the right lateral ventricle was performed extending to the previous burr hole and achieving a wide range of working angle with a rigid 0-degree lens endoscope. Intermittent irrigation generating convective flow was performed such as to mobilize the catheters tip gently upward, to remove them by grasping. Finally, a whole VPS replacement has been performed. Conclusion Persistence of intraventricular floating catheter fragments can lead to subacute or chronic infections. Neuroendoscopic retrieval represents a safe and effective alternative to a more extensive and invasive surgical approach. However, the exact catheter tip identification, grasping, and removal can be difficult to achieve, due to the technical instrumentation characteristics and altered intraventricular anatomy in chronic congenital hydrocephalus. In our experience, endoscopic convective flow induction through saline irrigation can determine floating intraventricular catheter fragments movement aiming to their identification and subsequent successful endoscopic retrieval.

Partial Duplication of the Lateral Semicircular Canal—A Novel Anatomical Malformation in a Child with Barakat Syndrome

Several known genetic causes of sensorineural deafness are associated with dysplasia of inner ear structures, including the cochlea and labyrinth. Here, we present a child with Barakat syndrome and sensorineural hearing loss, found to have multiple inner ear anomalies including partial duplication of the posterior limb of the left lateral semicircular canal. To our knowledge, duplication of the semicircular canal has not previously been reported. This finding expands our understanding of the range of anatomical variations observed in congenital inner ear malformations, and further characterizes the phenotypic manifestations of Barakat syndrome.

SYNGAP1 and Methylenetetrahydrofolate in Cerebrospinal Fluid: Cognitive Development after Oral Folate (5-Methyltetrahydrofolate) Supplementation in a 5-Year-Old Girl

Synaptic Ras GTPase-activating protein 1 (SYNGAP1), also called Ras-GAP 1 or RASA5, is a cerebral protein with a role in brain synaptic function. Its expression affects the development, structure, function, and plasticity of neurons. Mutations in the gene cause a neurodevelopment disorder termed mental retardation-type 5, also called SYNGAP1 syndrome. This syndrome can cause many neurological symptoms including pharmaco-resistant epilepsy, intellectual disability, language delay, and autism spectrum disorder. The syndrome naturally evolves as epileptic encephalopathy with handicap and low intellectual level. A treatment to control epilepsy, limit any decrease in social capacities, and improve intellectual development is really a challenging goal for these patients. The etiologic investigation performed in a 5-year-old girl with early epileptic absence seizures (onset at 6 months) and psychomotor delay (language) revealed a low methylenetetrahydrofolate level in cerebrospinal fluid in a lumbar puncture, confirmed by a second one (35 nmol/L and 50 nmol/L vs. 60–100 nmol/L normal), associated with normal blood and erythrocyte folate levels. Hyperhomocysteinemia, de vivo disease, and other metabolic syndromes were excluded by metabolic analysis. No genetic disorders (like methylenetetrahydrofolate reductase and methenyltetrahydrofolate synthetase) with folate metabolism were found. The physical examination showed only a minor kinetic ataxia. An oral folate (5-methyltetrahydrofolate) supplementation was started with oral vitamin therapy. The child showed good progress in language with this new treatment; epilepsy was well balanced with only one antiepileptic drug. The SYNGAP1 mutation was identified in this patient's genetic analysis. Since the start of folate supplementation/vitamin therapy, the patient's neurologic development has improved. To our knowledge, no association between these two pathologies has been linked and no patient with this SYNGAP1 mutation has ever showed much intellectual progress. Low cerebral methylenetetrahydrofolate levels could be associated with SYNGAP1 mutations. One of the hypotheses is the link of folate metabolism with epigenetic changes including methylation process. One inborn metabolic activity in folate metabolism may be associated with SYNGAP1 disease with epigenetic repercussions. Further studies should assess the link of SYNGAP1 and methyltetrahydrofolate and the evolution of SYNGAP1 patients with oral folate supplementation or vitamin therapy.

Vanishing White Matter Disease Presenting as Acute Febrile Encephalopathy: Case Report

A 3.5-year-old male child patient with mild developmental delay presented with history of acute onset fever, encephalopathy, and dyskinesia. The patient was investigated for common etiologies and was managed supportively. His neuroimaging was suggestive of vanishing white matter (VWM) disease which was confirmed by clinical exome sequencing. The child had an eventful hospital stay followed by near-total recovery after 4 weeks. The case attempts to sensitize readers about the current perspectives pertaining to VWM disease.

Encephalitis, a Rare Manifestation of Human Herpesvirus 7 Infection

Human herpesvirus 7 (HHV-7) infection typically occurs in childhood and is frequently asymptomatic. Some clinical manifestations include fever and exanthem subitum. There have been rare reports of invasion of HHV-7 into the central nervous system. Here we report a case of encephalitis associated with HHV-7. A 16-year-old girl presented with headache, vomiting, disorientation, and psychomotor agitation. Glasgow Coma Scale on arrival was 9. Cerebrospinal fluid tested positive for HHV-7. Electroencephalogram showed intermittent slowing and rare sharp waves in the left frontal region. She recovered well after appropriate treatment for encephalitis.This case added to the few existing reports of encephalitis due to HHV-7. Physicians should be aware of this rare neurological manifestation of HHV-7 for prompt management. Similar cases should be reported to further our knowledge about this virus and its role in neurological disease.

Aortic Thrombus Embolization in A Patient with Tuberous Sclerosis

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting many organ systems. Patients commonly develop a variety of benign tumors as well as neurological disease, including seizures, autism, and cognitive delay. We report here the case of an adolescent patient with TSC and a history of mild COVID-19 who presented with a 1-day history of altered mental status. The patient was found to have ischemic cerebral infarction of the right MCA and ACA territories. Initial angiography showed an occlusion of the right internal carotid artery without a demonstrable etiology, with follow-up echocardiography and angiography revealing a large aortic thrombus. The patient was not a candidate for thrombus removal due to her cerebral infarct and received medical anticoagulation. Thrombosis progressed to involve the left ICA, with left cerebral infarction and subsequent death. Aortic thrombus embolization as a cause of cerebrovascular accident (CVA) is a novel finding in the setting of TSC and should be considered for pediatric patients with CVA of unknown etiology. It is unclear whether this was related to the prior COVID-19 infection.