Journal of Pediatric Neurology - Volume 7, issue 4
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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: Hypoxic ischemic encephalopathy (HIE) is a major cause of neonatal mortality and morbidity. Unfortunately, there are no reliable methods to detect brain damage in these patients. The aim of this study is to investigate whether measurement of serum levels of protein S100B and nucleated red blood cells (NRBCs) counts in asphyxiated full-term newborns could be a useful tool for early detection of post asphyxia brain damage. Thirty full term infants with different grades of HIE together…with twenty matched controls were enrolled in the study. Serum samples were collected before the lapse of second hour after birth and samples repeated in the second and third days of life for detection of NRBCs count and level of protein S100B. Serum protein S100B and NRBCs counts were significantly increased in HIE group versus control group (P<0.05). In day 3, level of NRBC was not significantly higher in HIE group versus control (P>0.05). Serum protein S100B and NRBCs counts significantly increased in with increasing HIE severity (P<0.05). Sensitivity and specificity were calculated for protein S100B, which was higher day 3 (96.7% and 95%, respectively). For nucleated red blood cells, sensitivity and specificity were highest at first day (96.6% and 100%, respectively). From the present study it is concluded that serum protein S100B and NRBCs count are useful tools for prediction of brain damage and the expected course of HIE patients.
Keywords: Hypoxic ischemic encephalopathy, protein S100B, nucleated red blood cells
Abstract: In case of non-specific and relatively mild muscle symptoms, the diagnosis of an inborn error of metabolism could be easily missed. Muscle pain can be the first sign of a mitochondrial disorder, especially in combination with motor developmental delay or associated organ dysfunction. Here we report on six children with a distinctive pattern of symptoms in association with variable, suboptimal mitochondrial dysfunction. This pattern exists of early onset exercise intolerance, fatigue, feeding difficulties and concentration…problems associated with recurrent episodes of nocturnal hypothermia, muscle pain and mild motor retardation. No endocrine, cardiac, immunologic, neurodegenerative or psychiatric causes were found to explain these complaints. Based on the presence of muscle pain, multisystem involvement and mild lactic acidemia a mitochondrial disorder was suspected. We found decreased oxidation capacity in muscle, confirming a suboptimal mitochondrial function in our patients. Four out of five patients benefited from high dose riboflavin therapy. We think pediatricians should be aware of the possibility of a mitochondrial dysfunction in children presenting with a combination of diverse but relatively mild, "aspecific" symptoms. We advise to use the Mitochondrial Disease Criteria to evaluate the possibility of mitochondrial disease in these children.
Abstract: Vincristine is commonly used in treatment of acute lymphoblastic leukemia (ALL), and peripheral neuropathy is its dose-related toxicity. Motor impairment, specifically muscle weakness is the most severe manifestation of neuropathy. This study aimed at evaluation of the electrophysiological consequences of vincristine-contained chemotherapy in children. In a prospective cohort setting, the electrophysiological studies was performed in 42 children (25 cases of ALL, 17 cases of non-ALL malignancies) at the electrodiagnostic ward of Tabriz…Children Hospital, before and five weeks after chemotherapy. Changes in the electrodiagnostic parameters before and after administration of vincristine, as well as its relation with drug dose were determined. Twenty-five children with ALL with the mean age of 6.08 years, and 17 children with other malignancies with the mean age of 6.54 years during a 12-months period were enrolled. In the ALL group, there was no significant change in motor and sensory nerve conduction velocity and amplitude of sensory nerve action potential after five weeks. However, the amplitude of compound muscle action potential (CMAP) was significantly decreased both in upper and lower extremities. Decreased CMAP amplitude was detected in 96% of the ALL cases after induction, majority moderate (70.8%). Sixteen (66.7%) patients suffered from gait abnormality as well. In the non-ALL group, five (29.4%) cases were treated with regimen similar to that employed in the ALL group (group B) and 12 (70.6%) patients were treated with other regimens (group C). Neuropathy was detected in nine (52.9%) patients, five (100%) cases in group B and four (33.3%) cases in group C. In group B, mild, moderate and severe neuropathies were detected in one (20%), three (60%) and one (20%) cases, respectively. Patients in group C were affected with mild neuropathy. Generally, there was a significant decrease of CMAP amplitude with increasing dose of vincristine. This study showed that the electrophysiological changes due to weekly administration of vincristine are common in children with ALL during the induction phase, which usually presented in the form of decreased CMAP amplitude (motor-axonal neuropathy), however routine sensory studies were normal. Gait abnormality is accompanied in 66.7% of ALL cases.
Keywords: Vincristine, acute lymphoblastic leukemia, neuropathy, children
Abstract: Adhesion molecules play a role in leukocyte recruitment during central nervous system (CNS) inflammation. This study was designed to investigate the serum and cerebrospinal fluid (CSF) concentrations of adhesion molecules in children with bacterial meningitis for better understanding of their potential role in the pathophysiology of meningitis. Serum and CSF were collected on admission from 40 children who carried the diagnosis of bacterial meningitis. For comparison, age and sex matched 20 children with sepsis and 20…normal children were included as diseased and healthy control subjects, respectively. Endothelial (E) selectin, leukocyte (L) selectin, platelet (P) selectin, intercellular cell adhesion molecule-1 (ICAM-1), vascular cell adhesion molecules-1 (VCAM-1) were measured. CSF/serum of measured parameters was calculated to estimate ratio. In meningitis, serum soluble (s) sE-selectin, sL-selectin, sP-selectin, sICAM-1, sVCAM-1 was elevated than controls. Compared to sepsis, serum sE-selectin, sL-selectin, s-ICAM, sVCAM-1, CSF-sL-selectin, CSF-sVCAM-1 and sVCAM-1 ratio were elevated while serum sP-selectin was decreased in meningitis. In meningitis, positive correlation was found between CSF-protein and CSF-leukocytes, CSF-sICAM-1, CSF-sVCAM-1; between CSF-sE-selectin and CSF-sICAM-1. This study supports the role for adhesion molecules especially sL-selectin, sVCAM-1 in the pathophysiology of meningitis and suggests their use as biomarkers for meningitis. Presence of discrepancy of CSF/serum ratios for molecules of same molecular weight suggests intrathecal synthesis in addition to diffusion through the disrupted blood-brain barrier.
Abstract: Human herpesvirus-6 (HHV-6) has been associated with central nervous system encephalitis in immunocompetent children. To determine acute and chronic changes on magnetic resonance imaging (MRI) of a series of consecutive pediatric immunocompetent patients diagnosed with HHV-6 associated encephalitis. A retrospective review of acute and chronic MRI findings of immunocompetent children diagnosed with HHV-6 associated encephalitis from 2001–2008 was performed. Diagnosis was established by real time polymerase chain reaction using HHV-6 U77 helicase…gene-specific primers on cerebrospinal fluid during the acute phase of illness, excluding other known causes of encephalitis. Seven patients (four girls, ages 9 months–7 years) were diagnosed with HHV-6 associated encephalitis from 2001–2008. MRI abnormalities were present in six of seven patients. Three had bithalamic signal abnormalities on T2 weighted sequences that mimicked metabolic or demyelinating disease. All patients with MRI abnormalities had diffuse signal changes in the brainstem (n=5) and/or cerebellum (n=4). One patient with diffuse abnormalities in cortical grey and white matter, hippocampus, and cerebellum showed complete resolution of MRI findings after 1~month. Five patients had extensive necrosis of the acutely affected regions on follow up MRI 3 to 16~months post diagnosis. HHV-6 associated encephalitis can occur in immunocompetent children with a myriad of acute and chronic necrotizing changes on MRI. MRI abnormalities were seen predominantly in the thalami, brainstem, and cerebellum; and may be reflective of anatomical viral tropism. HHV-6 should be considered in the differential diagnosis of unexplained MRI changes in patients with encephalitis.
Keywords: Human herpesvirus-6, encephalitis, child, HHV-6
Abstract: Cerebral palsy (CP) is one of the leading causes of childhood disability worldwide, with the greatest burden found in the developing countries of the world. A longitudinal study was carried out on all consecutive new cases of CP who presented at the neuro-developmental clinic in Nigeria over a period of 6 months to evaluate the continuum of care available to children with CP following diagnosis. At the end of 1-year post-enrolment into the study, all cases…were evaluated for survival, on-going rehabilitative care, functional improvement and reasons for default. Eighty-two children were enrolled into the study. Mean age was 25.3 ± (SD=25.5) months and the leading causes of CP were birth asphyxia (39.0%), bilirubin encephalopathy (24.4%) and post infectious brain damage (18.3%). By the end of 1~year, 61 (74.4%) had defaulted from follow up, 11 (13.4%) had died and only 21 (25.6%) were still receiving rehabilitative care. The major reasons for default were financial constraints, no improvement in condition and the hospital being too far from place of residence. Presence of severe functional impairment and absence of epilepsy were associated with an increased risk of default from medical care. In conclusion, CP remains a major cause of neurodisability in Nigeria. There is a high default rate with majority of children lacking ready access to medical care and education. There is an urgent need for improvement in medical services in the country and social support for children with CP and their families.
Abstract: Raised intracranial pressure is a feature of cerebral malaria in children living in Africa. We investigated specific clinical optic disc features of papilledema to establish their prognostic significance in this encephalopathy. We developed a classification of acute papilledema and tested it against disease outcome. Kenyan children admitted with severe falciparum malaria (cerebral or impaired consciousness) underwent dilated fundal examination using direct and indirect ophthalmoscopy. Clinical features of the optic disc were systematically…recorded and compared to the child's outcome. Poor outcome defined as death or neurological impairment on discharge was used to construct and test a clinical classification of papilledema. Forty-five children were examined (26 cerebral malaria, 17 severe malaria with an impaired conscious level or prostration) of whom seven had a poor outcome (three died, four had residual neurological impairment). Loss of the optic disc cup and marked optic disc elevation were significantly correlated with a poor outcome (P<0.05). Increasing severity in the proposed classification of acute papilledema was positively correlated with a poor outcome (P<0.05, chi-square test for trend). Loss of the optic disc cup and marked elevation of the optic disc head appear to be correlated with poor outcome in children with severe malaria whereas the presence of dilated veins suggests a good outcome. The proposed classification of acute papilledema is useful as a prognostic indicator and may be applicable to other encephalopathies with raised intracranial pressure.
Abstract: Narcolepsy is a disorder of the sleep-wake cycle with long-term sequale. It is under recognized in children. Two children with narcolepsy/cataplexy are reported. Both were treated outside initially for epilepsy. Both are reasonably well on follow up. Narcolepsy and cataplexy is uncommon in children and should be considered when a child presents with typical history of excessive sleepiness, or odd features of epilepsy.
Abstract: A 22-month-old male child presented with recurrent febrile encephalopathy with regression of developmental milestones from 6-month of age. He had upper limb dystonia and startle response for which he received sodium valproate. He had compensated metabolic acidosis. Cranial magnetic resonance imaging revealed widening of the Sylvian fissure, fronto-temporal atrophy and T2 hyperintensity in globus pallidus, putamen and cerebellum. His urinary glutaryl carnitine was high (3.17 μmol/L) and free urine carnitine low (6.63…μmol/L). Glutaric aciduria should be considered in children with recurrent febrile encephalopathy and in them valproate should be avoided. Characteristic magnetic resonance imaging feature is helpful.
Abstract: Subacute sclerosing panencephalitis (SSPE) is a progressive central nervous system disorder, presents after a latent period of 6 years or more from an acute measles infection and has an insidious onset of neurological dysfunction associated with myoclonus and seizure activity. It progresses to coma and death within 1 or 2 years of onset. Brain magnetic resonance imaging (MRI) in SSPE shows lesions usually involving the parieto-occipital and cortico-subcortical regions asymmetrically in the early stage. In later…stage of SSPE, symmetric periventricular white-matter changes become more prominent on MRI. Here we describe a case report of a child with SSPE with brain MRI showing extensive brainstem and cerebellum involvement with additional lesion in the basal ganglia, these findings are rarely described with SSPE, and hence low-grade glioma was initially reported by radiologist. Thus, one has to be aware of such extensive brainstem and cerebellum involvement on MRI in SSPE.
Abstract: Intrathecal chemotherapy and systemic chemotherapy are used for both prophylaxis and treatment of central nervous system disease in hematologic malignancies. We presented two children with urinary retention due to neurotoxicity with two distinct drugs and reasons. The main presenting complaints were urinary retention and incontinence in both patients. Before the adverse clinical event, the patients had received vincristine intravenously and triple therapy with hydrocortisone, cytosine arabinoside, and methotrexate intrathecally. The clinical event…resolved, and vincristine and intrathecal chemotherapy were deleted from the patients subsequent therapy until recovery was achieved.
Abstract: Neural tube defects are developmental anomalies of the brain and spinal cord. They are typically diagnosed prenatally or shortly after birth. However, benign-appearing variants, such as an atretic meningocele, may go undiagnosed into adolescence or beyond. The authors report a rare case of atretic parietal cephalocele, a congenital anomaly of childhood that often goes misdiagnosed with poor prognosis. However, the prognosis largely depends on the presence or absence of associated anomalies.
Abstract: Two unrelated infants who presented with global developmental delay, coarse facial features, and cardiac valve involvement were evaluated. Presence of extensive Mongolian spots along with hepatosplenomegaly and cardiac valvular involvement helped to narrow down the diagnosis as beta-galactosidase deficiency. The parents could be offered prenatal diagnosis in future pregnancy.
Keywords: GM1 gangliosidosis, Mongolian spots, beta-galactosidase, prenatal study
Abstract: Marinesco-Sjögren syndrome is a rare syndromic disorder with distinctive features of cerebellar atrophy, developmental delay, congenital cataract and other associated features. It is an autosomal recessive disorder. Only 100-200 cases have been diagnosed worldwide until now. Only two previous reports could be found from India-one describing two cases and another report of three affected siblings. Here we describe a family with two affected siblings from Kolkata, India.
Abstract: The proximal migration of a ventriculoperitoneal (VP) shunt into the ventricles is an extremely rare complication of VP shunt surgery. Only few cases have been previously reported. We report a case of a 4-month-old girl who suffered a shunt malfunction due to complete migration of the shunt assembly, including the shunt chamber, in the dilated lateral ventricles. The migrated shunt was left in situ. A new VP shunt was performed on the opposite side. Child was…doing well in follow up. This case and the other reported cases are studied, and a possible causes and preventive measures are discussed.
Abstract: We report a preterm, small-for-gestational age, very low birth weight male neonate presenting at birth with generalized reddish blue papulonodular lesions (including palms and soles), anemia, thrombocytopenia, hepatosplenomegaly, interstitial pneumonitis, sensorineural deafness, atrial septal defect, and communicating hydrocephalus. A diagnosis of blueberry muffin rash in a child with congenital rubella syndrome and communicating hydrocephalus was made based on clinical and laboratory findings. The rash disappeared by 10th day of life.
Abstract: Joubert syndrome is a rare autosomal recessive disorder with malformations of brain stem and cerebellum, manifested by abnormal respiratory pattern, ocular abnormalities, ataxia and developmental retardation. "molar tooth sign", seen on brain magnetic resonance imaging illustrates the typical neuro-radiological appearance of this condition. In this report, we describe the familial occurrence of Joubert syndrome in two siblings with emphasis on the imaging features of this rare syndrome.