Journal of Pediatric Neurosciences最新文献

With the advent of modern neuroimaging, the imaging features of various leukoencephalopathies have been unraveled in the past two decades. Leukoencephalopathy with calcifications and cysts (LCC) is one such rare autosomal recessive disorder with marked clinical heterogeneity and a striking but characteristic imaging appearance-diffuse white matter changes, intraparenchymal cysts, and calcifications. The calcifications in LCC are characteristically nodular, dense, bulky, and predominantly located in gray nuclei of the central brain (basal ganglia, thalami) and cerebellum (dentate nuclei). We describe a case of a 9-year-old boy with progressive left hemiparesis and seizures, which on imaging showed characteristic features of LCC. We further review the neuroimaging features of LCC and its differential diagnoses.

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.

Pineal glioblastomas (GBMs) are extremely rare tumors. Herein we will present a pediatric patient with GBM located in pineal region who was admitted with the symptoms of increased intracranial pressure and treated with surgical resection and radiotherapy.

Introduction: Pineal region tumors are extremely rare accounting for less than 1% of all brain tumors. The most common type of pineal region tumors is germ cell tumor, followed by pineal parenchymal tumors, gliomas, atypical tumors, and the others.

Case report: A 5-year-old girl was admitted with complaints of headache, dizziness, imbalance in walking, and impaired vision for 1 month. Her neurological examination revealed a tendency to sleep, anisocoric pupillae, mesh eye pupil, dilated lateral gaze paralysis, and left hemiparasia (4/5 muscle strength). In magnetic resonance imaging, a mass was observed in the pineal region that infiltrates the right thalamus and right superior peduncle, isointense and hyperintense in T1 sections, hyperintense in T2 sections, having centrally contrasted areas in post-contrast sections. Due to the presence of evident hydrocephalus, a ventricular shunt was inserted and then through supracerebellar to infratentorial approach the lesion was removed subtotally. The histopathological diagnosis was GBM. GBMs in the pineal region are extremely rare tumors carrying poor prognosis. The patients are generally presented with the signs and symptoms of increased intracranial pressure. GBMs should be kept in mind in differential diagnosis of tumors in the pineal region.