Journal of Pediatric Neurology - Volume 9, issue 3
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Journal of Pediatric Neurology is an English multidisciplinary peer-reviewed medical journal publishing articles in the fields of child neurology, pediatric neurosurgery, pediatric neuroradiology, child psychiatry and pediatric neuroscience.
Journal of Pediatric Neurology encourages submissions from authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, 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 pediatric neurology.
Abstract: This is a report of a child with the 47,XYY karyotype and bilateral high-intensity focal lucencies in the periventricular white matter upon magnetic resonance imaging. We discuss the significance of these findings with respect to possible etiologies, and conclude that they may be characterized as giant perivascular spaces. To our knowledge, this is the first demonstration of giant perivascular spaces concurrent with the aberrant 47,XYY karyotype. Evidence of large perivascular spaces in children requires particular caution…because they could cause obstruction of the cerebrospinal fluid outflow. Although giant perivascular spaces may be found in inflammatory brain disease, perivascular myelin pathology or obstruction of lymphatic drainage, extended clinical and laboratory investigation and a detailed chromosomal analysis are always recommended when this rather frequent neuroradiological finding is encountered in children.
Abstract: Locked-in syndrome (LIS) is one of the ventral pontine syndromes and is rare in childhood. The commonest cause in adults is basilar artery stroke. Central nervous system tuberculosis causing LIS is extremely rare. We present a case of a 7-year-old boy who presented with classical LIS due to tubercular meningitis with magnetic resonance imaging findings suggestive of demyelination in the midbrain, cerebral peduncles and posterior superior pons bilaterally. Over the following months, he showed remarkable recovery…and was able to walk without assistance, feed himself, and speak.
Abstract: Intramedullary spinal cord abscesses are uncommon lesions. Forty percent of all such abscesses occur before 20 yr of age. Patients with acute onset of symptoms and signs have a graver prognosis. This generally occurs in the setting of systemic bacteremia. A case of large intramedullary spinal cord abscess extending up to the terminal spinal canal in a 6-month-old male baby who developed flaccid paraplegia without an evidence of systemic infection or septicemia or anatomical defect is…reported. The possibility of infection of an epidermoid in such cases cannot ruled out.
Abstract: We present a 14-year-old female patient with a 2 yr history of positional headache secondary to spontaneous diffuse cerebrospinal fluid (CSF) leaks. We treated the leak with an epidural blood patch which was radioactively labeled by a well-established nuclear medicine technique. Because spontaneous CSF leaks were frequently multifocal or diffuse throughout the spine, the extent of coverage or distribution of an epidural patch was generally determined by best estimate. Traditional radiographic contrast media mixed with…the blood cells had been used to monitor the patch coverage and it is questionable whether the contrast can be representative of the cell distribution. We applied a nuclear medicine technique to label the autologous red blood cells to monitor the range of spinal cord coverage of each epidural patch. After two visible epidural patches covered both the lumbar and thoracic spine, computed tomography myelogram demonstrated significantly decreased leakage when compared to the pre-patch images. However, the patient's symptoms remained essentially unchanged in the long term, which is consistent with refractory spontaneous CSF leaks. We believe that this sophisticated nuclear medicine blood labeling technique is a simple and accurate way to monitor the true cell coverage of the spine and the pattern of distribution.
Abstract: The exstrophy-epispadias complex comprises a spectrum of congenital abnormalities that includes classic bladder exstrophy, epispadias, cloacal exstrophy, and several variants. Each of these anomalies is thought to result from the same embryologic defect. Herein, we are reporting a case of cloacal exstrophy with spinal dysraphism, imperforate anus, severe lower limb defects, agenesis of left kidney and isolated levocardia with situs inversus.
Keywords: Exstrophy, cloaca, spinal dysraphism, situs inversus, split-foot, imperforate anus
Abstract: This report describes a case of infant botulism in a 4-month-old exclusively breast- fed female. The time from onset of symptoms to diagnosis was protracted, so the patient was not administered botulinum immune globulin. No source of exposure was identified. She eventually recovered with mild residual deficits.
Abstract: Miller-Dieker syndrome (MDS) is a gene deletion syndrome. It includes severe lissencephaly and a characteristic phenotypic appearance. Children with MDS also suffer from severe mental retardation, growth delay, epilepsy and occasionally hypsarrythmia on electroencephalogram. This disorder is invariably fatal in early childhood. Here, we report a new case of MDS associated with refractory atypical infantile spasms and severe mental retardation in a 3-year-old Tunisian boy. We emphasise the importance of prenatal diagnosis…to avoid the recurrence of this severe handicap, particularly in the case of a familial reciprocal translocation.
Abstract: We report a case of a child who suffered a left hemisphere arterial ischemic stroke due to basilar artery occlusion. He was treated with intra-arterial recombinant tissue plasminogen activator at six and a half hours after the onset of hemiparesis. There were no complications and he showed rapid neurological and neuroimaging improvement. Where facilities allow rapid assessment at a combined adult and pediatric neurosciences facility, intra-arterial recombinant tissue plasminogen activator should be considered,…especially for posterior circulation thrombosis.
Abstract: Benign familial neonatal seizures is an autosomal dominant disorder characterized by generalized tonic-clonic or partial seizures beginning in the first three days of life. There have been two variants identified with defects in potassium channels, KCNQ2 and KCNQ3. We present a case of a 2-day-old male admitted with seizures. Upon obtaining a family medical history, it was discovered that there was a multigenerational history of neonatal seizures on the paternal side beginning at 3 days of…life. The child underwent a full sepsis workup, magnetic resonance imaging, and interictal electroencephalography. He was discharged on levetiracetam at the parent's request for a non-sedating medication, only to be re-admitted 36~hr later for continued seizures. He was eventually well controlled on phenobarbital, suggesting that levetiracetam may not be the optimal treatment for this condition.
Abstract: In this article, we report a novel, unreported SCN1A mutation in a 3-year-old girl with Dravet syndrome. She has an insertional mutation of an adenine nucleotide immediately adjacent to base pair 1566 in exon 10, resulting in a premature stop codon at amino acid 524. We review the current literature on Dravet syndrome, also known as severe myoclonic epilepsy in infancy.