Journal of Pediatric Neuroradiology - Volume 2, issue 2
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Journal of Pediatric Neuroradiology is an English multidisciplinary peer-reviewed international journal providing a forum for the publication of papers on all topics related to child neuroradiology including diagnostic, functional and therapeutic imaging of the brain, head, neck, spine; congenital central nervous system malformations; pediatric ophthalmologic and otorhinolaryngologic imaging.
Journal of Pediatric Neuroradiology provides an in-depth update on new subjects, and current comprehensive coverage of the latest techniques in neuroradiological diagnosis and treatment in childhood.
Journal of Pediatric Neuroradiology encourages submissions from all authors throughout the world.
The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines that work in the field of child neuroradiology.
Abstract: Diffusion tensor imaging has been useful in demonstrating non-decussating corticospinal tract (CST) and superior cerebellar peduncles (SCP) in Joubert syndrome (JS) related disorder and in horizontal gaze palsy with progressive scoliosis (HGPPS). However, measurements of fractional anisotropy (FA) and mean diffusivity (MD) have never been performed in these diseases. The aim of our work was to investigate if FA and MD values in uncrossed white matter bundles due to defective axon guidance are different from normal decussating fibers. Two patients with HGPPS and four with JS were included. FA and MD were measured by region of interest manually placed on…the CST, the SCP and the posterior rows (PR) of the pons. The same measurements were performed in 59 control patients. Comparison of these values between patients and controls was performed by graphical inspection. MD values were normal in all cases. In all patients with HGPPS and JS, FA measurements in SCP were not different from normal controls. FA values in PR and in CST were not different in JS patients but higher than in controls in HGPPS patients. This difference was statistically significant. Normal MD values seem to indicate that MD and FA values likely represent two very different processes in the developing brain. High FA values in PRs and CST in HGPPS, implicating microscopic deficits of axonal structures, is a unique finding in this disease. Abnormal measurements on PR confirm a role of these fibers in the pathogenesis and clinical presentation of HGPPS.
Keywords: Defective axon guidance disorders, DTI, fractional anisotropy, mean diffusivity
Abstract: A 3-year-old female child presented with a rare combination of three complications 2 months after a closed head injury. A linear skull fracture grew into a leptomeningeal cyst within 8 weeks of head injury. In addition, a large brain abscess developed and led to hydrocephalus by causing ventriculitis, thereby increasing the size of leptomeningeal cyst.
Keywords: Childhood, closed head injury, leptomeningeal cyst, brain abscess, hydrocephalus
Abstract: GM1 gangliosidosis is a rare storage disorder caused by a deficiency of lysosomal beta-galactosidase. Symptoms are nonspecific and include profound central nervous system involvement, and visceral and musculoskeletal manifestations. We report a case of late infantile GM1 gangliosidosis with magnetic resonance imaging manifestations that have not been previously described. These include regions of patchy parenchymal gradient echo signal loss, progressive atrophic changes, and magnetic resonance spectroscopy demonstrating decreased N-acetyl aspartate, and increased choline and myoinositol peaks.
Keywords: Late infantile gangliosidosis, low gradient echo signal, MRI, magnetic resonance spectroscopy
Abstract: A 5-month-old girl was found on magnetic resonance imaging to have a heterogeneously enhancing conus region mass. At surgery, an extramedullary, intradural mass was resected. Pathology confirmed a diagnosis of adrenocortical carcinoma. The neoplasm originated from ectopic adrenal cortical cell rests in the spine. Ectopic adrenal cortical tissue in the spinal canal is extremely rare. This is only the ninth reported case of an adrenocortical neoplasm arising as a primary tumor in the central nervous system.
Abstract: Discitis is an uncommon disease in children, especially neonates, which may be difficult to diagnose given its often non-specific presenting features. Discitis may be confirmed on magnetic resonance imaging without a biopsy or positive tissue culture. We present a case of discitis in the cervical spine in a neonate, along with the difficulties in obtaining a conclusive diagnosis.
Abstract: Walker-Warburg Syndrome (WWS) is a rare and severe form of autosomal recessive congenital muscular dystrophy affecting the brain, eyes, and muscles. We report a case of an infant diagnosed with cobblestone lissencephaly as well as a Chiari malformation, consistent with likely WWS based on fetal anomalies noted on prenatal ultrasound and confirmed with magnetic resonance imaging (MRI) at 35 week. Although multiple posterior fossa abnormalities have been reported in the setting of WWS, to our knowledge, the co-existence of a Chiari malformation has never before been reported. We describe the fetal MRI and pathological findings of WWS and discuss the…role of MRI as an antenatal imaging tool.
Abstract: Cerebellar agenesis (CA) may result from both a genetically mediated as well as a disruptive etiology. In preterm neonates, the cerebellum is highly susceptible to injury. Different neuroimaging findings have been reported in disrupted cerebellar development in preterm neonates. We report the association of CA and severe periventricular leukomalacia in a 7-year-old girl with spastic tetraparesis, profound cognitive impairment, epileptic seizures and posthemorrhagic hydrocephalus who was born at 25 wk of gestation. The neuroimaging studies performed during the first wk of life had shown a normal structure of the cerebellum and brainstem confirming a disruptive, rather than a malformative etiology.…CA is the most severe form of cerebellar disruption in preterm neonates. Differentiation between malformative and disruptive etiologies of CA is important for prognosis and genetic counseling of the affected children and their families.
Abstract: Citrullinemia is a rare inborn error of urea cycle metabolism causing hyperammonemia. In the classic form, a newborn presents with poor feeding, vomiting, progressive lethargy and signs of increasing intracranial pressure 3–7 d after birth, rapidly progressing to apnea, coma and death if untreated. We found only two reported cases in the literature describing magnetic resonance imaging findings of neonatal citrullinemia. We present a case of neonatal citrullinemia with more extensive and asymmetric magnetic resonance imaging abnormalities, including evidence of both superficial and deep venous cerebral infarction.
Abstract: A 3-year-old girl with trisomy 21 presented with progressive proptosis, scleral injection, and pulsatility of her right eye 1 month following minimal blunt head trauma. Computed tomography suggested a carotid cavernous fistula (CCF), which was confirmed by digital subtraction angiography and further classified as an indirect, Barrow type D CCF. Treatment was proposed because of vision-threatening elevated intraocular pressures. Transvenous coil embolization of the CCF was successfully performed. The patient was discharged to home 2 days after the procedure with immediate clinical improvement of her proptosis and normalization of her intraocular pressures on follow-up ophthalmologic visit 2 wk later.