Humans ; Encephalomyelitis, Acute Disseminated/complications* ; COVID-19/complications* ; SARS-CoV-2 ; Brain

OBJECTIVE: To study the clinical features of children with acute disseminated encephalomyelitis (ADEM) and related recurrence factors. METHODS: A retrospective analysis was performed for the clinical data and prognosis of 73 children with ADEM who were hospitalized from November 2011 to January 2017. RESULTS: Among the 73 children, 41 (56%) had a history of infection before onset and 7 (10%) had a history of vaccination. All children had the symptoms of encephalopathy, including disturbance of consciousness in 47 children (64%) and mental and behavioral disorders in 54 children (74%). Pyrexia was observed in 53 children (73%), dyskinesia in 47 children (64%), headache in 47 children (64%) and vomiting in 40 children (55%). Brain MRI was performed for 65 children and the results showed involvement of the subcortical white matter (83%, 54/65), the deep nuclei (60%, 39/65), the brain stem (58%, 38/65) and the cerebellum (42%, 27/65). Spinal cord involvement was observed in 20 children (20/43, 47%). A total of 15 children experienced recurrence during follow-up. Compared with the non-recurrence group, the recurrence group had significantly higher percentages of children with deep nucleus involvement (P<0.05), with injury in ≥3 spinal segments (P<0.01) and with a time from disease onset to gamma-globulin/hormone treatment of >2 weeks (P<0.05). CONCLUSIONS ADEM in children have various clinical manifestations. A small number of children may experience recurrence. Deep nucleus involvement on MRI, long spinal segmental injury (≥3 segments) and late treatment with gamma-globulin/hormone (>2 weeks) may be associated with the recurrence of ADEM.
Child ; Encephalomyelitis, Acute Disseminated ; Humans ; Magnetic Resonance Imaging ; Prognosis ; Recurrence ; Retrospective Studies

BACKGROUND AND PURPOSE: A few groups have suggested that activated cytokines and nitrosative stress are closely involved in the pathogenesis of different demyelinating disorders induced by the neuroinflammatory destruction of neurons. The purpose of this study was to elucidate the associations of cytokines and S-nitrosothiols (RSNO) with the severity of neurodegeneration during relapse in demyelinating disorders of the central nervous system. METHODS: We measured levels of interleukin-6 (IL-6), erythropoietin, RSNO, and phosphorylated neurofilament heavy chain (pNfh) in cerebrospinal fluid (CSF) samples obtained from patients with different demyelinating disorders: multiple sclerosis (MS, n=52), acute disseminated encephalomyelitis (ADEM, n=9), and neuromyelitis optica spectrum disorders (NMOSD) with aquaporin-4 immunoglobulin G (AQP4-IgG, n=12). We compared these levels with those measured in a control group (n=24). RESULTS: We found that IL-6 in CSF was elevated in NMOSD with AQP4-IgG and ADEM patients as well as in MS patients after the destruction of soluble IL-6. Erythropoietin levels were lower in MS, while RSNO levels were higher in NMOSD with AQP4-IgG and MS patients than in the control group. CSF pNfh levels were elevated in MS and ADEM patients. CONCLUSIONS: These results confirm that IL-6 is activated in different demyelinating disorders, with this elevation being more prominent in the CSF of NMOSD with AQP4-IgG and ADEM patients. Moreover, S-nitrosylation is activated in demyelinating disorders with spinal-cord injury and neurodegeneration in these patients. However, we found no correlation between these biochemical markers, and so we could not confirm whether IL-6-mediated nitric oxide production is involved in spinal-cord lesions.
Biomarkers ; Central Nervous System* ; Cerebrospinal Fluid ; Cytokines ; Demyelinating Diseases* ; Encephalomyelitis, Acute Disseminated ; Erythropoietin ; Humans ; Immunoglobulin G ; Interleukin-6* ; Intermediate Filaments ; Multiple Sclerosis ; Neuromyelitis Optica ; Neurons ; Nitric Oxide ; Recurrence ; S-Nitrosothiols*

Acute hemorrhagic encephalomyelitis (AHEM) is a severe form of encephalitis characterized by fulminant clinical course and presence of hemorrhagic necrosis of the white matter. Mycoplasma pneumoniae (M. pneumoniae) have severe central nervous syndrome complication with encephalitis as that most common pediatric manifestations, but have been extremely rare report with AHME. A 10-year-old boy was referred to emergency room because of drowsy mental status, weakness of left side extremities and truncal ataxia. His deep tendon reflexes were hyperactive, neck stiffness sign and Babinski sign were both positive. Motor power were decreased on the both left upper and lower extremities. The sequences of T2-weighted and gradient recalled echo (GRE) showed hyper-intense lesions on multifocal white natter areas with hemorrhagic signal. Cerebrospinal fluid (CSF) analysis showed the pleocytosis with neutrophil dominant. The results of deoxyribonucleic acid (DNA) test and culture of M. pneumoniae were reported negative in CSF, but immunoglobulin M (IgM) was positive in blood. He received intravenous high dose corticosteroid and macrolide. After discharge, his neurologic function gradually returned to normal including sitting and standing without support. We reported the previously healthy boy with M. pneumonia related AHEM. The early diagnosis with brain MRI and the aggressive immunosuppressive treatment may be beneficial for recovery.
Ataxia ; Brain ; Cerebrospinal Fluid ; Child ; DNA ; Early Diagnosis ; Emergency Service, Hospital ; Encephalitis ; Extremities ; Humans ; Immunoglobulin M ; Leukocytosis ; Leukoencephalitis, Acute Hemorrhagic* ; Lower Extremity ; Magnetic Resonance Imaging ; Male ; Mycoplasma pneumoniae* ; Mycoplasma* ; Neck ; Necrosis ; Neutrophils ; Pneumonia ; Pneumonia, Mycoplasma* ; Reflex, Babinski ; Reflex, Stretch ; White Matter

Guillain-Barré syndrome (GBS) and acute disseminated encephalomyelitis (ADEM) are demyelinating neurologic disorders with different target organs. Although they share similar pathogenetic mechanism, reports of simultaneous occurrence of the 2 disorders are rare. A 2 year 6 month old girl visited our hospital for fever, cough, and general weakness. Although the muscle power of extremities showed mild weakness and voiding difficulty, initial deep tendon reflex of both knees and ankles was normal. A nerve conduction study to evaluate the weakness revealed the absence of F waves. Cerebrospinal fluid analysis demonstrated pleocytosis with lymphocyte predominance and elevated protein levels. Magnetic resonance imaging showed abnormal T2 hyperintensity in pons, medulla and spinal cord. Serum anti-GD1b antibody was positive. Based on clinical findings, laboratory findings, nerve conduction study, and neuroimaging, the diagnosis of GBS and ADEM was made. This is the first case of GBS accompanied by ADEM in Korea.
Ankle ; Cerebrospinal Fluid ; Cough ; Demyelinating Diseases* ; Diagnosis ; Encephalomyelitis ; Encephalomyelitis, Acute Disseminated ; Extremities ; Female ; Fever ; Guillain-Barre Syndrome ; Humans ; Knee ; Korea ; Leukocytosis ; Lymphocytes ; Magnetic Resonance Imaging ; Nervous System Diseases ; Neural Conduction ; Neuroimaging ; Peripheral Nervous System* ; Pons ; Reflex, Stretch ; Spinal Cord

Diffuse Cerebral Sclerosis of Schilder ; diagnosis ; therapy ; Epilepsy ; etiology ; therapy ; Humans ; Mitochondrial Diseases ; complications

DNA Polymerase gamma ; DNA-Directed DNA Polymerase ; genetics ; Diffuse Cerebral Sclerosis of Schilder ; diagnosis ; drug therapy ; etiology ; genetics ; Heterozygote ; Humans ; Infant ; Male ; Mutation

Mitochondria play essential role in eukaryotic cells including in the oxidative phosphorylation and generation of adenosine triphosphate via the electron-transport chain. Therefore, defects in mitochondrial DNA (mtDNA) can result in mitochondrial dysfunction which leads to various mitochondrial disorders that may present with various neurologic and non-neurologic manifestations. Mutations in the nuclear gene polymerase gamma (POLG) are associated with mtDNA depletions, and Alpers-Huttenlocher syndrome is one of the most severe manifestations of POLG mutation characterized by the clinical triad of intractable seizures, psychomotor regression, and liver failure. The hepatic manifestation usually occurs late in the disease's course, but in some references, hepatitis was reportedly the first manifestation. Liver transplantation was considered contraindicated in Alpers-Huttenlocher syndrome due to its poor prognosis. We acknowledged a patient with the first manifestation of the disease being hepatic failure who eventually underwent liver transplantation, and whose neurological outcome improved after cocktail therapy.
Adenosine Triphosphate ; Diffuse Cerebral Sclerosis of Schilder* ; DNA, Mitochondrial ; Eukaryotic Cells ; Hepatitis ; Humans ; Liver Failure* ; Liver Transplantation* ; Liver* ; Mitochondria ; Mitochondrial Diseases ; Oxidative Phosphorylation ; Prognosis ; Seizures

Mitochondria play essential role in eukaryotic cells including in the oxidative phosphorylation and generation of adenosine triphosphate via the electron-transport chain. Therefore, defects in mitochondrial DNA (mtDNA) can result in mitochondrial dysfunction which leads to various mitochondrial disorders that may present with various neurologic and non-neurologic manifestations. Mutations in the nuclear gene polymerase gamma (POLG) are associated with mtDNA depletions, and Alpers-Huttenlocher syndrome is one of the most severe manifestations of POLG mutation characterized by the clinical triad of intractable seizures, psychomotor regression, and liver failure. The hepatic manifestation usually occurs late in the disease's course, but in some references, hepatitis was reportedly the first manifestation. Liver transplantation was considered contraindicated in Alpers-Huttenlocher syndrome due to its poor prognosis. We acknowledged a patient with the first manifestation of the disease being hepatic failure who eventually underwent liver transplantation, and whose neurological outcome improved after cocktail therapy.
Adenosine Triphosphate ; Diffuse Cerebral Sclerosis of Schilder* ; DNA, Mitochondrial ; Eukaryotic Cells ; Hepatitis ; Humans ; Liver Failure* ; Liver Transplantation* ; Liver* ; Mitochondria ; Mitochondrial Diseases ; Oxidative Phosphorylation ; Prognosis ; Seizures

Acute hemorrhagic leukoencephalitis (AHLE) is an acute, rapidly progressing, fulminant demyelinating disease. It is a rare disease of the central nervous system with high mortality; survivors commonly present with significant neurological deficit. We report the case of a 16-month-old girl who survived AHLE and presented with the associated neurologic deficit. The patient came into the emergency department with febrile seizure. She showed bilateral pinpoint-sized pupils and hyperactive deep tendon reflexes. Her mental status was initially drowsy and rapidly progressed to stupor. Extensive demyelination and microbleeds were found in the cerebral white matter, thalamus and left cerebellum on Magnetic resonance imaging (MRI) scans. Her mental status was improved by intravenous administration of immunoglobulin and methylprednisolone. Five months after being discharged, increased white matter connectivity was found on color-coded follow-up MR diffusion tensor imaging (DTI) as compared to previous MRI. We therefore suggest adding the DTI technique when a follow-up MRI is performed in patients with AHLE. It could be useful to visualize the status of axonal injury and to encourage patients and their parents to continue the rehabilitation program.
Administration, Intravenous ; Axons ; Central Nervous System ; Cerebellum ; Child ; Demyelinating Diseases ; Diffusion Tensor Imaging* ; Diffusion* ; Emergency Service, Hospital ; Female ; Follow-Up Studies* ; Humans ; Immunoglobulins ; Infant ; Leukoencephalitis, Acute Hemorrhagic* ; Magnetic Resonance Imaging ; Methylprednisolone ; Mortality ; Neurologic Manifestations ; Parents ; Pupil ; Rare Diseases ; Reflex, Stretch ; Rehabilitation ; Seizures ; Seizures, Febrile ; Stupor ; Survivors ; Thalamus ; White Matter