Journal of Pediatric Neurosciences最新文献

Association of Guillain-Barre Syndrome (GBS) with SARS COV 2 infection has been found often in adults and elderly patients. However, this manifestation is rarely noted in children, only three pediatric patients have been reported in the literature globally. In this report, we describe an 8-year-old child who was admitted with an acute onset symmetrical quadriparesis. He had a history of SARI (fever, cough, and vomiting) 20 days prior to the admission. He was confirmed GBS by clinical assessment, CSF albuminocytological dissociation, and nerve conduction study. SARS COV 2 infectivity was confirmed by RTPCR in both child and mother. The course of the illness strongly suggests an association between the GBS and SARS COV 2 infection in this case.

Mitochondrial disorders (MIDs) are frequently multisystemic in nature and cause significant morbidity and mortality. Accurate assessment of mitochondrial disease prevalence has been difficult in the past. Primary MIDs are due to mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA)-located genes. Here we report cases of two siblings who presented to the pediatric emergency department with status epilepticus. Initially, the elder sibling was treated for metabolic encephalopathy and viral encephalitis, during his admission to the hospital. On treatment with multiple antiepileptic drugs, the status epilepticus subsided. A provisional diagnosis of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes was made. Magnetic resonance imaging showed diffusion restriction in the left temporal lobe, insular cortex, and left lentiform nucleus, which completely resolved on follow-up after 1 month. His sudden demise in May 2019 due to status epilepticus, and a similar case presentation in his younger sibling, prompted us to do a genetic analysis test. The exome sequence revealed FASTKD2 mutation, a rare variant. This case report helps in increasing the awareness among the clinicians about the clinical presentation of FASTKD2 mutation case.

Meningiomas are frequent in adults but rare in children, though they are not uncommon. They are known to occur in the pediatric population in all age groups. In children, meningiomas are usually known to be large, cystic, and even aggressive. Among them, skull base meningiomas constitute a distinct entity. Meningiomas arising from the skull base in those younger than the age of two years are rarely reported in literature. We report one such skull base meningioma, involving the middle and posterior cranial fossa, in a child of one year and eight months. The challenges associated in its diagnosis and management are presented.

Cerebral folate transport deficiency results from impaired folate transport across the blood:choroid plexus:cerebrospinal fluid (CSF) barrier. This leads to low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite. We are reporting two children with this treatable cerebral folate transport deficiency. Case 1: Seventeen-year-old boy presented with delayed milestones followed by regression, seizures, and intention tremors. On examination child had pyramidal and cerebellar signs. Magnetic resonance imaging (MRI) of brain revealed diffuse cerebral and cerebellar atrophy. Targeted next generation sequencing revealed homozygous missense pathogenic variant in FOLR1 gene in exon 4 c.382C>T p.R128W, confirming the diagnosis of cerebral folate deficiency. Case 2: Six-year-old male child presented with delayed milestones, myoclonic jerks and cognitive regression from 3 years of age. Child had microcephaly with ataxia. Computed tomography (CT) of brain revealed multifocal calcifications. MRI brain revealed cerebellar atrophy with hyperintense T2 signal changes in the subcortical white matter of frontal and temporal lobes. Genetic testing revealed homozygous variant (c.493+2_493+6delTGAGG) in intron 4 of the FOLR1 gene which is a novel pathogenic variant. Both children started on folinic acid and there was a significant improvement in development, behavior, ataxia, and decrease in seizure frequency. In conclusion, cerebral folate transport deficiency should be suspected in every child with global developmental delay, epilepsy, ataxia and neuroimaging showing cerebellar atrophy and calcification. Response to folinic acid supplementation is partial if diagnosed late and treatment initiation is delayed.

Mutations in seizure threshold 2 (SZT2) gene on chromosome 1p34.2 are an of late identified cause of epilepsy and epileptic encephalopathy. We report a 3-year-old girl who presented with developmental delay, dysmorphic facies, refractory seizures, and subsequent developmental regression. Despite significant multifocal epileptiform abnormalities on her electroencephalogram, she had a paucity of generalized discharges indicating a functional deficiency of corpus callosum inspite of its increased thickness seen on magnetic resonance imaging. Her clinical exome sequencing revealed a homozygous single base pair duplication in the SZT2 gene that resulted in a frameshift mutation and premature truncation of the protein. Our case emphasizes the role of SZT2 gene in the diagnostic algorithm of early childhood refractory epilepsy especially in the context of a thick yet dysfunctional corpus callosum.

Congenital combined deficiency of factor V and factor X deficiency is extremely rare. We report this for the first time in literature in an infant who developed acute subdural hematoma in posterior fossa leading to hydrocephalus.

Congenital kyphoscoliosis associated with myotonic dystrophy type 1 (DM 1) is a rare combination and carries challenges of surgical as well as anesthetic intervention. The presence of muscular dystrophy may accelerate progression of scoliosis thus requiring surgical treatment. The objective of this case report was to discuss the perioperative anesthetic and surgical management of such cases.

The tracheal tube (TT) kink during the intraoperative period is commonly observed and is worrisome once the positioning is done during neurosurgical procedures. The complications related to tube kink are more in the prone position and the mechanism of this with the neck in flexion has not been explained anywhere. We have made an attempt to elucidate the probable mechanism of this TT kink by using SOLIDWORKS 2020 {3D Computer assisted design (CAD) design software} and the precautions that can be taken to prevent perioperative catastrophe by describing a case of a pediatric patient undergoing a neurosurgical procedure while in the prone position.