Most patients with X-linked agammaglobulinemia are susceptible to infections, while some cases also suffer from inflammatory or autoimmune complications. We describe a patient with progressive encephalitis who improved after the use of immunomodulatory treatment with corticosteroids, fluoxetine, and nitazoxanide. In most of the cases the evolution of the progressive encephalitis is complicated and catastrophic.
View Article and Find Full Text PDFTuberous sclerosis complex (TSC) is a genetic disorder, frequently characterized by early dermatological manifestations. The recognition and adequate description of these dermatological manifestations are of utmost importance for early diagnosis, allowing for the implementation of therapeutic and preventive measures. Fibrous cephalic plaques (FCPs) are considered a major diagnostic criterion for TSC, as FCPs are the most specific skin lesions of TSC.
View Article and Find Full Text PDFAtaxia-telangiectasia (A-T) is a disease caused by mutations in the ATM gene (11q22.3-23.1) that induce neurodegeneration Sasihuseyinoglu AS et al.
View Article and Find Full Text PDFObjective: To present a case series of encephalitis patients with anti-N-methyl-D-aspartate receptor antibodies, attending two neurological referral centers in a three-year period.
Methods: A retrospective, descriptive, comparative study included child and adult patients in two neurological populations, positive for antibodies against the NR1 and NR2 subunits of the glutamate (NMDA) receptor in serum and CSF, as determined during a three-year period.
Results: Sixty-six patients were included (40 children and 26 adults).
Purpose: To describe the temporal association of specific acute neurological symptoms in pediatric patients with confirmed SARS-CoV-2 infection between May and August 2020.
Methods: We performed a recollection of all the clinical and laboratory data of patients having acute neurological symptoms temporally associated with SARS-CoV-2 infection at a third-level referral hospital in Mexico City (Instituto Nacional de Pediatría). Patients in an age group of 0-17 years with acute neurological signs (including ascending weakness with areflexia, diminished visual acuity, encephalopathy, ataxia, stroke, or weakness with plasma creatinine kinase (CK) elevation) were evaluated.
Charcot Marie Tooth disease (CMT) is a progressive motor and sensory polyneuropathy, it is characterized by a very heterogeneous molecular basis and phenotype. MFN2 and GDAP1 participate in mitochondrial energy metabolism and the rare coinheritance of its pathogenic variants has been associated with a cumulative effect in the observed phenotype. We describe a patient with a severe axonal CMT and inherited heterozygous MFN2 (p.
View Article and Find Full Text PDFIntroduction Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is one of the most common autoimmune encephalitides. The frequency of anti-NMDAR encephalitis is known to exceed the frequency of any individual viral encephalitis in young subjects. Epileptic seizures are a cardinal symptom in anti-NMDAR encephalitis; a significant amount of pediatric patients exhibit seizures as the first symptom of the disease, and most of them will develop them during the acute phase.
View Article and Find Full Text PDFReports about neurological injury related to roller-coaster rides mostly involve adults; we present a case of subdural hematoma in a pediatric patient presented 14 days after a roller-coaster ride. These rides show extreme up-and-down, to-and-fro, and rotatory acceleration/deceleration forces that could produce tensile and shearing stresses with tearing of bridging cerebral veins resulting in subdural hemorrhage. Pediatricians should consider roller-coaster riding a modern cause of subdural hematoma, as well as a possible cause of unexplained neurologic events in otherwise healthy adolescents.
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