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2018| October-December | Volume 13 | Issue 4
Online since
February 25, 2019
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REVIEW ARTICLES
Pediatric tubercular meningitis: A review
Roosy Aulakh, Sanya Chopra
October-December 2018, 13(4):373-382
DOI
:10.4103/JPN.JPN_78_18
PMID
:30937075
Childhood tuberculosis (TB) has a high incidence and prevalence in developing countries like India with tubercular meningitis (TBM) being the most common cause of death. Most cases of TBM are diagnosed late when despite adequate therapy; morbidity and mortality continue to remain high. This review aims to provide a pragmatic approach at dealing with cases of tubercular meningitis in children including clinical features, laboratory and radiological criteria, treatment options and prognostic implications. The objective of this review is to assist in early identification, proper investigation and timely treatment of TBM in children in order to reduce neurological morbidity and mortality associated with it.
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ORIGINAL ARTICLES
Mineralizing angiopathy with basal ganglia stroke after minor trauma: Case series including two familial cases
Vykuntaraju K Gowda, Vidya Manjeri, Varunvenkat M Srinivasan, Sushma V Sajjan, Asha Benakappa
October-December 2018, 13(4):448-454
DOI
:10.4103/JPN.JPN_89_17
PMID
:30937087
Introduction:
Basal ganglia stroke following trauma has been known to occur and described in previous case studies. But exact etiology is unknown.
Aim:
To study the clinical characteristics, imaging features, and neurodevelopmental outcomes of children presented with basal ganglia stroke associated with mineralization in the lenticulostriate arteries in our center from January 2013 to June 2016.
Subjects and Methods:
Children with subcortical stroke during the study period were identified retrospectively, and those presented with basal ganglia stroke with mineralization of lenticulostriate vessels were analyzed for clinical profile, imaging features, and outcomes. Statistical analysis was carried out using the Statistical Package for the Social Sciences (SPSS) software, version 17 (IBM, New York).
Results:
Of 38 children with basal ganglia stroke (20 boys, 18 girls, and mean age at presentation 14.026±5.8470 months), 27 had history of trauma preceding the stroke. Thirty-seven children presented with hemiparesis and one presented with hemidystonia. The mean follow-up time was 8 months, three children developed recurrence during that period. Five children with recurrence of stroke, initial episodes were not evaluated as they presented to us for the first time. A total of 17 of 30 infants who did not have stroke recurrence were normal on follow-up, whereas 9 infants showed persistent mild hemiparesis, 2 had motor delay, and 2 others had mild residual distal weakness. No identifiable causes were observed for vascular calcification. Two familial cases were also noted.
Conclusion:
Most common cause for acute basal ganglia stroke in toddlers was mineralizing angiopathy of lenticulostriate vessels. It was preceded by minor trauma in most cases.
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CASE REPORTS
Riboflavin treatment in genetically proven Brown–Vialetto–Van Laere syndrome
Meenal Garg, Shilpa D Kulkarni, Anaita U Hegde, Krishnakumar N Shah
October-December 2018, 13(4):471-473
DOI
:10.4103/JPN.JPN_131_17
PMID
:30937093
Brown–Vialetto–Van Laere (BVVL) syndrome is a rare motor neuron disorder of childhood, which forms a continuous spectrum with Fazio–Londe syndrome. It is an autosomal-recessive inherited disease caused by mutations in intestinal riboflavin transporter genes. We describe a child with genetically proven BVVL syndrome where prompt treatment with riboflavin showed good results.
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ORIGINAL ARTICLES
Yoga in children with epilepsy: A randomized controlled trial
Sujata V Kanhere, Deepak R Bagadia, Varsha D Phadke, Priyashree S Mukherjee
October-December 2018, 13(4):410-415
DOI
:10.4103/JPN.JPN_88_18
PMID
:30937081
Context:
Majority of epilepsy begins in childhood. Twenty to thirty percent of patients may not respond to antiepileptic drugs. Yoga as a complementary therapy has been found to be beneficial in adults, but has not yet been studied in children with epilepsy.
Aim:
To study the effect of yoga on seizure and electroencephalogram (EEG) outcome in children with epilepsy.
Setting and Design:
A randomized controlled trial was conducted in the pediatric neurology outpatient department of a tertiary care teaching hospital.
Materials and Methods:
Twenty children aged 8–12 years with an unequivocal diagnosis of epilepsy on regular antiepileptic drugs were enrolled. Yoga therapy was provided to 10 children (study group) and 10 children formed the control group. Yoga therapy was given as 10 sessions of 1h each. We compared seizure frequency and EEG at baseline, 3, and 6 months. Statistical analysis was carried out using standard statistical tests. A
P
value of <0.05 was considered significant.
Results:
No children had seizures at the end of 3 and 6 months in the study group. In the control group, at 3 and 6 months, four and three children, respectively, had seizures. Eight children each in both the groups had an abnormal EEG at enrollment. At the end of 6 months, one EEG in the study group and seven in the control group were abnormal (
P
= 0.020).
Conclusion:
Yoga as an additional therapy in children with epilepsy leads to seizure freedom and significant improvement in EEG at 6 months.
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Skull and spinal Ewing’s sarcoma in children: An institutional study
Suchanda Bhattacharjee, Shivanand Reddy Kuruganti Venkata, Megha S Uppin
October-December 2018, 13(4):392-397
DOI
:10.4103/JPN.JPN_109_18
PMID
:30937078
Background:
Ewing’s sarcoma is a disease of children and young adults and occurs most often in bone and soft tissues. The intracranial and spinal manifestation of the disease is rare and reported incidence is 1%–6%.
Aims and Objectives:
We conducted this study to determine the surgical outcome of children with skull and spine Ewing’s sarcoma (SSES).
Methods:
This is a prospective analysis of 13 patients of SSES who reported to the Department of Neurosurgery, Nizam’s Institute of Medical Sciences, Hyderabad, Telangana, India, between 2014 and 2016. All cases after detailed examination, magnetic resonance imaging, and computed tomography scan were subjected to surgery followed by adjuvant therapy comprising chemotherapy and radiotherapy. Outcome was analyzed at 6 months as well at latest follow-up. Neurological function, local recurrence, primary or secondary nature of the disease, distant relapse, and treatment-related complications were analyzed in this study.
Results:
There were eight female and five male patients with a mean age of 12 years (ranging from 4 to 8 years). Pain was the common presenting feature in all cases. Focal neurological deficits corresponding to the anatomical location was seen in six patients. These 13 cases were distributed anatomically as four cases involving the cloves, two cases with occipital bone and lobe involvement, one case of parietal bone and lobe involvement, and six cases of spinal involvement. Surgery was performed in all cases where gross total excision (Ozge C, Calikoglu M, Cinel L, Apaydin FD, Ozgür ES. Massive pleural effusion in an 18-year-old girl with Ewing sarcoma. Can Respir J 2004;11:363-5), near-total excision, and subtotal excision was achieved in these 13 cases (Steinbok P, Flodmark O, Norman MG, Chan KW, Fryer CJ. Primary Ewing’s sarcoma of the base of the skull. Neurosurgery 1986;19:104-7). Subsequently all cases underwent multiagent chemoradiotherapy. Postsurgery pain subsided in 12 (92%) of patients. Ten patients maintained or improved motor function. In seven cranial cases and in six spinal cases, four cases showed improvement whereas three (23%) had deterioration of motor function.
Conclusions:
Surgical outcome of SSES in short-term follow-up is good with current recommended management regimen of maximum excision followed by chemo and radiotherapy. However, metastasis is not uncommon.
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CASE REPORTS
Opsoclonus myoclonus syndrome: A rare manifestation of dengue infection in a child
Soaham D Desai, Fenil R Gandhi, Anand Vaishnav
October-December 2018, 13(4):455-458
DOI
:10.4103/JPN.JPN_55_18
PMID
:30937088
Opsoclonus myoclonus syndrome (OMS) is an inflammatory neurological disorder, which is characterized by chaotic uncontrolled movements of the eyes and involuntary jerk-like movements of the body. Different modalities of treatment have been described in medical literature to treat OMS. Immunomodulatory treatment with either steroids or intravenous immunoglobulin has been considered. Our case was a 14-year-old boy who presented with fever, mild confusion, without any seizures or focal deficits. On examination, he had opsoclonus in his eyes and had cortical myoclonus in his hands and body. On evaluation, he had low platelets, normal metabolic workup, normal brain imaging, and cerebrospinal fluid showed lymphocytic pleocytosis. He was managed conservatively and had spontaneous improvement in opsoclonus myoclonus by 5th day of his illness and complete recovery in 2 weeks. Although dengue is primarily considered hematotropic virus, it can involve nervous system as well and manifest with OMS.
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A frontal giant intradiploic giant pearl (epidermoid cyst) with extracranial and intracranial extension: A rare entity
Prakash Rao Gollapudi, Siddartha Reddy Musali, Imran Mohammed, Sandeep Raja Pittala
October-December 2018, 13(4):480-482
DOI
:10.4103/JPN.JPN_74_18
PMID
:30937095
Craniofacial epidermoid cysts are rare tumors representing 0.2%–1% of all the intracranial tumors. Intradiploic variants account for 25% of these cysts. These cysts are benign, slow-growing, congenital tumors derived from ectodermal remnants misplaced during embryogenesis. Mean age at presentation of these lesions is 40 years; epidermoid cysts are typically asymptomatic (Toglia JU, Netsky MG, Alexander E Jr. Epithelial (epidermoid) tumors of the cranium. Their common nature and pathogenesis. J Neurosurg 1965;23:384-93). Giant extradural epidermoid cysts with profound deformation of the brain and extensive lytic skull lesions may allow a normal life without any significant neurological deficits. Computed tomography scan and magnetic resonance imaging play an important role in the diagnosis of the lesion and management protocol. Histologically, epidermoid cysts are lined by stratified squamous epithelium and are filled with anucleatic keratin (Hao S, Tang J, Wu Z, Zhang L, Zhang J, Wang Z. Natural malignant transformation of an intracranial epidermoid cyst. J Formos Med Assoc 2010;109:390-6). Complete removal of the cyst along with its capsule is the treatment of choice. Recurrences of intradiploic epidermoid cyst have been reported. Here, we report a case of 14-year-old girl presenting with a giant frontal intradiploic epidermoid cyst with an intracranial and extracranial extension without any neurological deficits. Bifrontal craniotomy was performed and cyst was excised
in toto
.
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ORIGINAL ARTICLES
N
-methyl-
d
-aspartate encephalitis our experience with diagnostic dilemmas, clinical features, and outcome
Sadanandavalli R Chandra, Hansashree Padmanabha, Neeraja Koti, Kishore Kalya Vyasaraj, Pooja Mailankody, Anupama R Pai
October-December 2018, 13(4):423-428
DOI
:10.4103/JPN.JPN_96_18
PMID
:30937083
Introduction:
A neuropsychiatric syndrome characterized by a wide spectrum of clinical manifestations. It is seen in patients with antibodies against NR1-NR2 heteromers of the NMDA receptor. As the spectrum is mainly psychiatric most patients are treated as psychiatric disease resulting in huge diagnostic delay.
Patient and methods:
Here we describe 29 patients with NMDA encephalitis seen by the authors in the last five years. Percentage of Transfected cells showing granular cytoplasmic florescence was considered for positivity and severity both in CSF and serum. Their presenting diagnosis, clinical features and the dilemmas, alarming gaps, laboratory data, response to treatment and relapses are discussed.
Observations:
All patients presented with a spectrum of psychiatric symptoms varying from panic to severe aggression, seizures, chorea, hemiplegia, catatonia, mitgehen, mutism, delirium, mania and memory problems. EEG is invariably abnormal as against imaging.
Conclusion:
NMDA receptor mediated encephalitis should be suspected in all children and females of adolescent age with refractory neuropsychiatric syndrome. Both CSF and serum should be tested and regular follow up for relapses and neoplasms is mandatory.
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LETTERS TO EDITOR
Pediatric brain tumor grading based on CD56 quantification
George Vartholomatos, Kalliopi Stefanaki, George A Alexiou, Anna Batistatou, Georgios S Markopoulos, Meropi Tzoufi, George Sfakianos, Neofytos Prodromou
October-December 2018, 13(4):524-527
DOI
:10.4103/JPN.JPN_155_17
PMID
:30937110
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SHORT COMMUNICATION
Valuable research in fake journals and self-boasting with fake metrics
Asir John Samuel, Vevita Priya Aranha
October-December 2018, 13(4):517-518
DOI
:10.4103/JPN.JPN_66_18
PMID
:30937105
Valuable research works are getting wasted by publishing them in so called, fake journals (pseudo journals, hijacked or predatory journals). Fake journals are the journals which do not perform peer review or minimal language editing in the name of peer review. Unaware of negative consequences of publishing in fake journals, budding or novice academician/clinician/researcher continue to fall prey for them. Present scenario, forced them to get their valuable research published for promotion, pay hike, academic or research reputation, etc. But, they boast themselves by publishing them in fake journals with fake metrics. By making publication in fake journals, only the publishers make profit and pseudo enhance the bio-data of novice academician. It is becoming a big business. In this short communication, we have highlighted the most common prevalent issue among the novice or budding academician.
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ORIGINAL ARTICLES
V-Y plasty or primary repair closure of myelomeningocele: Our experience
Geover Joslen Lobo, Madhukar Nayak
October-December 2018, 13(4):398-403
DOI
:10.4103/JPN.JPN_40_18
PMID
:30937079
Background:
Open neural tube defects in the spine most commonly are in the lumbo-sacral region. Surgical closure is the treatment, but in primary closure the chances of CSF leak are more. Hence a novel technique of using an advancement flap called the V-Y plasty for closure of these defects(6). Our study compares the outcomes of primary closure and V-Y plasty in the closure of Myelomeningocoeles.
Methods:
A prospective study of the infants who underwent surgical repair for MMC at our hospital from August 2014- January 2018 were included in the study. Total of 22 infants were treated, 9 underwent primary repair and 13 underwent V-Y plasty.
Results:
The time taken for primary closure was a mean of 120 min, while the advancement flap took longer of 190.7 min. All the 9 who underwent primary closure had CSF leak, 3 developed hydrocephalus, 6 had wound dehiscence, 3 had neurological deficits and 1 died. Of the 13 infants who underwent V-Y plasty 3 had CSF leaks, 1 had hydrocephalus, 5 had neurological deficits and no wound dehiscence or deaths.
Conclusion:
The aim of surgical repair is to cover the exposed neural tissue, prevent CSF leak and reduce CNS infections. V-Y plasty a plastic surgical technique of advancement flaps with intact pedicles improves the outcome of skin closure once the neural placode is placed in the dura and closed. This reduces the morbidity in a one-time procedure.
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Benign acute childhood myositis: A benign disease that mimics more severe neuromuscular disorder
Sunil Pradhan, Animesh Das, Sucharita Anand
October-December 2018, 13(4):404-409
DOI
:10.4103/JPN.JPN_116_18
PMID
:30937080
Context:
Proximal lower limb weakness presenting acutely with or without preceding fever is a strong mimic of Guillain–Barré syndrome (GBS). Benign acute childhood myositis (BACM) forms an important differential diagnosis in such cases.
Aim:
To characterize the clinical and laboratory findings of patients with BACM for better understanding of the disease.
Settings and Design:
This prospective longitudinal study was conducted in a tertiary care hospital of northern India.
Materials and Methods:
Thirty-two patients presenting in the outpatient or emergency clinic of the hospital with severe myalgia that exacerbated with straight leg raising test and fever from July 2016 to July 2017 were included in the study.
Statistical Analysis:
All the continuous data were expressed as number and percentage or mean ± standard deviation/median. Non-parametric continuous data between groups were analyzed by Friedman’s test.
Results:
The mean age of the patients was 14.3 (±8.7) years and they presented after a nonspecific febrile illness in most of the cases (53.1%). The symptoms resolved after a mean of 5.7 (±1.6) days. Myalgia was present in 21 (65%) cases, whereas proximal weakness was the prominent finding in 14 (43%) cases. Electrolyte abnormality (hypokalemia) was present in four (12.5%) cases. In all patients, the muscle enzymes (creatine phosphokinase, serum glutamic oxaloacetic transaminase, serum glutamic pyruvic transaminase, and lactate dehydrogenase) were elevated at presentation, and electromyography showed myopathic pattern. A significant recovery took place in the next 5–7 days.
Conclusion:
BACM should be actively looked for in cases of painful acute proximal limb weakness in the adolescents.
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Relation of serum creatinine to Sarnat scoring and brain computerized tomography of neonates with hypoxic ischemic encephalopathy. A single-center experience
Mohamed A El-Gamasy, Redha Alarabawy
October-December 2018, 13(4):437-442
DOI
:10.4103/JPN.JPN_64_18
PMID
:30937085
Background:
It is not easy to suspect whether newly born infants diagnosed as hypoxic ischemic encephalopathy (HIE) will develop impairment of renal function, so there is an urge to scientifically research about correlations of severity of HIE, which is represented by Sarnat scoring and brain computerized axial tomography (CAT) and serum creatinine level in these newly born infants.
Aim:
To evaluate renal function in the form of serum creatinine levels in full-term neonates with HIE and their correlation with severity degree of HIE, which is represented by Sarnat scoring and CAT.
Subjects and Methods:
This study was a case–control type. It was conducted on 72 full-term neonates who were classified into group 1, which included 36 full-term neonates who were diagnosed as HIE according to the definition of the World Health Organization and group 2, which included 36 full-term neonates who were matched for age and sex and who served as the control group. Serum creatinine levels were measured at days 1 and 7 postnatally. CAT scans were carried out for cases only.
Results:
Serum creatinine levels were elevated in group 1 when compared to the control group at days 1 and 7 postnatally. They were significantly correlated to the Sarnat scoring system of HIE, meaning that serum creatinine levels gradually increased with the increase in severity of HIE according to Sarnat and Sarnat staging. A statistically significant difference was observed between serum creatinine levels in patients with different findings of brain CAT, meaning that more elevation in serum creatinine levels were reported with more severe cases represented by marked changes in brain CAT.
Conclusion:
Serum creatinine levels correlate with the severity of HIE of neonates according to Sarnat scoring and brain CAT.
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CASE REPORTS
A rare case of spinal schwannoma in a child presenting with subarachnoid hemorrhage: A case report with review of literature
Humam Tanki, Harshita Singh, Uday S Raswan, Abdul R Bhat, Yagnesh Saija, Altaf R Kirmani, Iqbal Javaid
October-December 2018, 13(4):503-507
DOI
:10.4103/JPN.JPN_83_18
PMID
:30937101
Pediatric spinal schwannomas/neurofibromas constitute only 2.5%–4% of all pediatric spinal tumors. However, subarachnoid hemorrhage (SAH) because of spinal pathologies is very rare, representing 1.5% of all cases of SAH. Spinal nerve sheath tumors such as schwannomas rarely present with SAH, especially before the appearance of overt signs of spinal cord or root compression. We report a case of dorsolumbar schwannoma in an 11-year-old girl presenting clinically with signs and symptoms mimicking meningitis, but meningeal signs later proved to be due to SAH associated with spinal (D12-L1) schwannoma and hydrocephalus. Mass was excised and ventriculoperitoneal shunt was inserted. In our clinical practice, we may sometimes come across some uncommon diseases with even more uncommon presentations as happened with us at our institute. We must always consider that there is a possibility of SAH owing to silent spinal lesion in patients with angiographic negative intracranial SAH as in this case.
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Glucose transporter type 1 deficiency syndrome: Developmental delay and early-onset ataxia in a novel mutation of the
SLC2A1
gene
Tullio Messana, Angelo Russo, Raffaella Vergaro, Antonella Boni, Margherita Santucci, Antonella Pini
October-December 2018, 13(4):496-499
DOI
:10.4103/JPN.JPN_169_17
PMID
:30937099
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) was first described by De Vivo in 1991, and the classic clinical manifestations include infantile epilepsy, developmental delay, and acquired microcephaly. A neurological complex disorder including elements of hypotonia, spasticity, ataxia, and dystonia can frequently be present. GLUT1-DS is an inborn error of metabolism caused by impaired glucose transport through blood–brain barrier in the majority of patients because of mutation of solute carrier family 2 (facilitated glucose transporter) member 1 gene (
SLC2A1
), encoding the transporter protein. We report a 6-year-old girl with GLUT1-DS, which is caused by a novel heterozygous variant c.109dupC of the
SLC2A1
gene. The dominating clinical features were ataxia, epilepsy started at 4 years, acquired microcephaly, and mild intellectual disability. Treatment with ketogenic diet showed clinical improvement with the reduction of ataxia and seizure control in a 10-month follow-up period.
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ORIGINAL ARTICLES
Plasma and cerebrospinal fluid beta-endorphin levels show a strong association in children with cerebral malaria
Oluwagbemiga O Adeodu, Oluwatosin E Olorunmoteni, Saheed B A Oseni, Efere M Obuotor
October-December 2018, 13(4):416-422
DOI
:10.4103/JPN.JPN_15_18
PMID
:30937082
Background:
Beta (β)-endorphins are endogenous neuropeptides found in the plasma and cerebrospinal fluid (CSF) of humans but there have been reports of the relationship between the plasma and CSF β-endorphin levels in different clinical conditions. However, the relationship between β-endorphin levels in the plasma and CSF of children with cerebral malaria (CM) has not been reported.
Aim:
To determine the relationship between β-endorphin levels in the CSF and plasma of children with CM.
Settings and Design:
This cross-sectional study involved 40 children, aged between 6 months and 14 years, admitted with a diagnosis of CM at the Obafemi Awolowo University Teaching Hospitals Complex (OAUTHC), Ile-Ife, Nigeria.
Materials and Methods:
One milliliter (mL) of venous blood and 1mL of CSF obtained from each subject at admission were used to determine the β-endorphin levels using enzyme-linked immunosorbent assay (ELISA) method.
Statistical Analysis:
Bivariate linear regression was used to determine the association between plasma and CSF β-endorphin levels using the correlation coefficient (
r
), coefficient of determination (
R
2
), and
P
values.
Results:
The plasma β-endorphin levels significantly positively correlated with CSF β-endorphin (
r
= 0.568,
P
= 0.001) such that for every unit rise in plasma β-endorphin, CSF β-endorphin rose by 0.252 pmol/L (confidence interval: 0.132–0.371 pmol/L).
Conclusion:
The finding of positive correlation between plasma and CSF β-endorphin levels in this study suggests a possible direct link between plasma and CSF in CM, probably from the disruption of the blood–brain barrier that has been reported in CM.
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REVIEW ARTICLES
Diencephalic syndrome as presentation of giant childhood craniopharyngioma: Management review
Guru D Satyarthee, Harshad Chipde
October-December 2018, 13(4):383-387
DOI
:10.4103/JPN.JPN_179_17
PMID
:30937076
Diencephalic syndrome (DES) is an extremely uncommon occurrence, and approximately 100 cases have been reported. It presents as a failure to thrive in infants and children but rarely occurs in adult population. The characteristic clinical features of DES include severely emaciated body, normal linear growth and normal or precocious intellectual development, hyperalertness, hyperkinesis, and euphoria usually associated with intracranial sellar–suprasellar mass lesion, usually optico-chiasmatic glioma or hypothalamic mass. DES as a presentation of craniopharyngioma is extremely uncommon but can also occur with brain stem mass. Detailed PubMed and MEDLINE search for craniopharyngioma associated with DES yielded only six cases in children below 6 years of age. Thus, we reviewed a total of seven cases including previously published six cases and added additional our own case. Overall, the mean age at diagnosis was 4.15 years with male:female ratio of 4:3, the mean time interval between symptom of DES appearance and final diagnosis was 6.6 months. The most commonly observed symptom of DES was weight loss (85%). The clinical feature, imaging, and management of such rare syndrome along with pertinent literature are briefly reviewed.
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CASE REPORTS
Rare case of “diprosopus bicephalous triophthalmus” and review of literature
Panduranga Chikkannaiah, Nishaa Prathap, Srinivasamurthy Venkataramanappa
October-December 2018, 13(4):465-468
DOI
:10.4103/JPN.JPN_31_18
PMID
:30937091
Diprosopus is a rare congenital anomaly, characterized by partial or complete duplication of the craniofacial structure. It constitutes 0.4% of all congenital anomalies. Complete duplications are invariably associated with systemic anomalies. Here, we present such a case of diprosopus with complete duplication of face in a 24-week-old male fetus, associated with anencephaly and spinal rachischisis. Proposed theory of embryogenesis and associated anomalies are also discussed.
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Neurosurgical implications of osteogenesis imperfecta in a child after fall: Case illustration
Luis Rafael Moscote-Salazar, Osvaldo Koller, Sergio Valenzuela, Alexis Narvaez-Rojas, Guru D Satyarthee, Joulen Mo-Carrascal, Johana Maraby
October-December 2018, 13(4):459-461
DOI
:10.4103/JPN.JPN_9_18
PMID
:30937089
Osteogenesis imperfecta (OI) is a group of hereditary genetic pathologies of connective tissue, which is characterized by bone fragility and fractures. It is classified into types I, II, III, IV, V, and VI. The disorder is caused by an autosomal-dominant mutation in one of the two genes that encode the alpha chains of type I collagen,
COL1A1
and
COL1A2
. Several central nervous system abnormalities have been described in children with OI, however, it has been through various case reports. The neurological abnormalities that have been described are macrocephaly, ventriculomegaly, myelopathy, cranial neuropathy, basilar invagination, obstructive hydrocephalus, cranial fractures, and intracranial hemorrhage. In this report, we describe the clinical case of a child with parietal fracture; the main objective of this work being to show one of the several neurological implications that children with OI can present, and their implications for the pediatric neurosurgeons as neurosurgical complications are very frequent.
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40
LETTERS TO EDITOR
Correspondence to levetiracetam in neonatal seizures as first-line treatment
Raffaele Falsaperla, Giovanna Vitaliti
October-December 2018, 13(4):520-521
DOI
:10.4103/JPN.JPN_48_18
PMID
:30937107
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ORIGINAL ARTICLES
A randomized control trial of botulinum toxin A administration under ultrasound guidance against manual palpation in spastic cerebral palsy
Prakruthi S Kaushik, Vykuntaraju K Gowda, Sanjay K Shivappa, Rajeshwari Mannapur, Ajay Jaysheel
October-December 2018, 13(4):443-447
DOI
:10.4103/JPN.JPN_60_18
PMID
:30937086
Background:
Botulinum toxin A is established as an effective treatment to reduce spasticity in cerebral palsy (CP). But very little data are available regarding the techniques of administration. Hence, this study was conducted to compare administration of botulinum toxin with and without ultrasound.
Materials and Methods:
This is a randomized trial conducted for 2 years at a tertiary care hospital in children aged up to 6 years with CP. Children were assessed with range of ankle dorsiflexion, Modified Ashworth Scale (MAS), and Gross Motor Function Measure 66(GMFM 66) before and after administration. They were followed up for 6 months.
Results:
Of the 180 children screened, 30 who met the criteria were included. Those enrolled in the study were categorized into group I and group II, children who were given botulinum toxin with ultrasound (
n
= 14) and without ultrasound (
n
= 16), respectively. Results showed a significant increase in ankle dorsiflexion in both groups (
P
≤ 0.005) but no significant difference was reported between the groups (
P
= 0.4). A statistically significant increase in GMFM scores (
P
≤ 0.005) during sequential assessment was observed in both groups, but no significant difference was observed in the GMFM scores between the groups (
P
= 0.45). Majority of children improved by a scale of 2 (MAS) from baseline in groups after 12 weeks, 50% in group I and 57.9% in group II.
Conclusion:
No significant difference was observed in the outcome with regard to technique of administration of botulinum toxin with ultrasound and without ultrasound into gastrocnemius muscle.
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Association of hypocapnia in children with febrile seizures
Deepak Sachan, Samridhi Goyal
October-December 2018, 13(4):388-391
DOI
:10.4103/JPN.JPN_73_18
PMID
:30937077
Introduction:
Febrile seizure is a benign condition in children. Susceptibility genes associated with febrile convulsions have been identified, but the precise pathophysiologic mechanism that triggers febrile seizure is unclear. Using animal models, it has been demonstrated that hyperthermia causes respiratory alkalosis with consequent brain alkalosis and seizures. This study was conducted to find out any association of febrile seizures with fever induced hypocapnia.
Methods:
We conducted a cross sectional observational study and enrolled 45 children presenting with febrile seizures. Axillary temperature was measured and venous blood gas analysis was done soon after admission and within 24 hour of seizure onset. Mean pH and pCO2 from venous blood gas analysis was measured and compared with standard normal values. Data was analyzed using SPSS software version 17.0 software.
Results:
The mean pCO2 (27.95 ± 5.31mmHg) was much below normal range, and 91% of children had hypocapnia (pCO2 <35) after the febrile seizures. However alkalosis (pH > 7.45) was demonstrated in only 20% of children. Also pCO2 levels in samples drawn before 2 hours were significantly less than those taken after 2 hours (23.24 ± 3.44 vs 29.29 ± 4.99 respectively; p = 0.001).
Conclusion:
Our data indicates that febrile seizures may be associated with fever induced hyperventilation and ensuing hypocapnia may be one of the precipitating factor in inducing seizures. However, well-structured human trials are needed to demonstrate the same.
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CASE REPORTS
Mineralizing vasculopathy causing motor delay and silent strokes?
Roshani Krishnegowda, Chetan Kashinkunti, Suhas Joshi
October-December 2018, 13(4):469-470
DOI
:10.4103/JPN.JPN_98_17
PMID
:30937092
Stroke in children is known to have varied causes and many newer ones continue to be identified. One such recently described entity is mineralizing vasculopathy of lenticulostriate vessels to basal ganglia. Although it is a well-known cause of infantile stroke following trivial head injury, this condition as an etiology of isolated motor delay without a prior history of stroke has not been described. We report a case of an infant with isolated unexplained motor delay who presented with hemidystonia and hemiparesis following a trivial fall. This case is unique because mineralizing vasculopathy as a cause of isolated motor delay prior to presenting as stroke has not been reported before. This case opens up the possibility of isolated motor delay following suspected silent strokes as a clinical presentation of mineralizing vasculopathy. Further studies are needed to determine whether this is a part of a spectrum including more severe clinical picture.
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2,726
43
Bilateral facial nerve palsy in a child: When the smile returns
Tullio Messana, Francesca Lombardi, Andrea Canini, Angelo Russo, Chiara Landini, Arcangela Curatolo, Antonella Pini, Chiara Ghizzi
October-December 2018, 13(4):508-511
DOI
:10.4103/JPN.JPN_58_18
PMID
:30937102
Bilateral facial nerve palsy (FNP) is an extremely rare clinical condition. Different from unilateral FNP, because of idiopathic or Bell’s palsy in the majority of cases, bilateral FNP is most often correlated to an underlying medical condition, which can be congenital, neurological, infectious, neoplastic, traumatic, or metabolic. We describe the case of an 8-year-old girl with bilateral facial paralysis because of Epstein–Barr virus infection with late diagnosis and therapy. We discuss the differential diagnosis hypothesis, focusing on the different outcome and recovery times in relation to the timing of treatment.
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1
3,190
41
Intravenous immunoglobulin: A good choice for acute cerebellar ataxia associated with varicella
Fatma G Kilavuz, Arzu Ekici, Hatice Onur, Deniz Ekici, Cengiz G Orcan
October-December 2018, 13(4):512-513
DOI
:10.4103/JPN.JPN_79_18
PMID
:30937103
Postinfectious cerebellar ataxia is the most common cause of acute ataxia in childhood. The most frequently associated viral agent is varicella. Acute cerebellar ataxia is considered benign, and its symptoms usually diminish within several weeks. We describe a 5-year-old boy who developed gait disorder and garble speech 2 weeks after chicken pox and who was successfully treated with intravenous immunoglobulin.
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4,082
76
Moyamoya disease presenting as alternating hemiparesis with relapsing remitting hemichorea: An unusual manifestation
Siddharth Maheshwari, Aldrin Anthony, Suman Kushwaha, Sandeep Singh, Rupak Desai, Dyutima Madan
October-December 2018, 13(4):514-516
DOI
:10.4103/JPN.JPN_85_18
PMID
:30937104
Case:
Moyamoya disease (MMD) is a neurological disease involving internal carotid artery (ICA) leading to its occlusion. Among the children, the disease presents as ischemic strokes, whereas in adults, it presents as hemorrhagic strokes. Movement disorder among the MMD is very rare with varied presentation. This article reports a case of 16-year-old girl presented with a history of alternating hemiparesis with recurrent hemichorea with self-remitting tendency. Magnetic resonance angiography brain showed marked-to-complete attenuation of supraclinoid ICA with multiple tortuous collateral vessels replacing the circle of Willis.
Conclusion:
MMD should be kept in the differential diagnosis of children presenting with alternating focal neurological deficit with recurrent movement disorder as movement disorder could be the initial presentation. MMD may present as waxing and waning features of the chorea and neurological deficit.
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45
An infected dermoid cyst without a sinus tract: A rarity mimicking a spinal tumor
Batuk Damjibhai Diyora, Bhagyashri Bhende, Naren Nayak, Alok K Sharma
October-December 2018, 13(4):474-479
DOI
:10.4103/JPN.JPN_34_18
PMID
:30937094
Spinal dermoid cysts are rare and account for 0.8% to 1.1% of spinal intramedullary Tumors. Only a few cases of infected spinal dermoid cysts have been reported in the literature and most of them were associated with a dermal sinus as the source of infection. We report a case of an infected spinal dermoid cyst in the absence of a dermal sinus in a 3-year-old child who underwent excision of cyst. On a long-term follow-up of about 10 years, there was no evidence of any recurrence. However, bowel and bladder dysfunction persisted. In the light of the current literature, we discuss the clinical presentation, etiopathogenesis, radiological features, management, and long-term outcome of an infected conus dermoid cyst.
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2,928
41
Vertebral hemangioma an extremely rare cause of spinal cord compression in children: A case report
Nilesh Jain, Jitendra Tadghare, Akhilesh Patel, Amit Varma
October-December 2018, 13(4):483-485
DOI
:10.4103/JPN.JPN_59_18
PMID
:30937096
Symptomatic benign vascular tumors of the bone are rare. Vertebral hemangiomas are rare detectable spinal tumors. Those presenting with neurological deficits are extremely rare. Early diagnosis and complete excision of the lesion with decompression of the cord is the definitive management in such cases. Delay in treatment may cause irreversible damage to the cord and may leave patient with lifelong neurological deficit. Here, we report a similar case of a thoracic vertebral hemangioma causing spinal cord compression in a child.
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55
Spontaneous coiling of peritoneal catheter—uncommon complication of ventriculoperitoneal shunt: Recognition and management
Gautam Dutta, Arvind K Srivastava, Anita Jagetia, Daljit Singh, Hukum Singh
October-December 2018, 13(4):486-489
DOI
:10.4103/JPN.JPN_63_18
PMID
:30937097
Background:
Coiling of peritoneal catheter is a rare complication associated with ventriculoperitoneal shunt procedures performed for the treatment of hydrocephalus. In most of the reported cases, coiling is associated with shunt migration resulting in shunt malfunction.
Case Description:
Here, we report two cases where spontaneous coiling of peritoneal end was observed following insertion of shunt, one of which was also associated with pseudocyst formation, which was clinically silent. Interestingly, in both the patients, shunt system was intact. We describe the clinical features, management, and possible mechanism of this feature.
Conclusion:
In asymptomatic coiling of the peritoneal catheter, the patient should be kept in close observation as these groups of patients may be vulnerable to malfunction, and timely intervention may save the patient from further abdominal and cranial complications. Patients presenting with shunt malfunction should get abdominal evaluation performed to look for silent pseudocyst formation over and above a cranial computed tomography and shunt series.
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2,607
37
LETTERS TO EDITOR
Kluver–Bucy syndrome in an adolescent girl: A sequel of encephalitis
Sujita K Kar, Anamika Das, Shweta Pandey, Bandna Gupta
October-December 2018, 13(4):523-524
DOI
:10.4103/JPN.JPN_70_18
PMID
:30937109
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3,993
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CASE REPORTS
Rasmussen’s epileptogenic encephalitis in a tropical country
Komi Assogba, Kossivi M Apetse, Kokouvi P Waklatsi, Kokou Douti, Damelan Kombate, Koffi A A Balogou
October-December 2018, 13(4):490-495
DOI
:10.4103/JPN.JPN_51_18
PMID
:30937098
Background:
Encephalitis of Rasmussen is an inflammatory hemiencephalopathy of unknown etiology. It is a cause of drug-resistant epilepsy.
Aim:
To report two cases of Rasmussen’s encephalitis (RE) in a low-income setting.
Clinical Observation:
The cases concerned were that of an 8-year-old boy and a 4-year-old girl. The illness began with daily several seizures at the age of 28 months in the boy and 23 months for the girl. Epileptic seizures were generalized in the elder one and focal in the younger. The elder presented right hemiplegia with severe cognitive impairment. In the younger child, the expression of the language was disturbed, associated with right hemiparesis at 4/5. The electroencephalography recording showed background theta asymmetric rhythm associated with discharges of periodic lateralized epileptiform discharges (PLEDs) into the left hemisphere in the two cases. Brain imaging showed left hemisphere atrophy. The seizures had decreased in intensity after association of several anticonvulsant molecules over a period of 3–6 months. The diagnosis of RE was based on clinical, paraclinical, therapeutic, and evolution arguments.
Conclusion:
There was a delay to establish the diagnosis. Further studies are needed to evaluate rehabilitation capacities in children with RE before brain maturation.
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48
Recurrent paradoxical tuberculosis with chest wall abscess and optochiasmatic tuberculoma
Suresh Kumar, Sumeet R Dhawan, Lokesh Saini, Paramjeet Singh, Sanjay Verma, Meenu Singh
October-December 2018, 13(4):500-502
DOI
:10.4103/JPN.JPN_90_18
PMID
:30937100
New-onset clinical or radiological symptoms in a patient with tuberculosis pose diagnostic treatment challenges, which can be due to treatment failure, disease relapse, or paradoxical response. We describe an adolescent case of recurrent paradoxical response complicating tuberculous meningitis. The first paradoxical tuberculosis presented as chest wall abscess, which was complicated by uniocular, gradually progressive, painless loss of vision after 6 months.
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2,510
38
Congenital muscular dystrophy due to novel compound heterozygote mutations in
POMGNT1
gene
Sedat Isikay, Akif Şirikçi
October-December 2018, 13(4):462-464
DOI
:10.4103/JPN.JPN_36_18
PMID
:30937090
Muscular dystrophy-dystroglycanopathy is a heterogeneous group of inherited muscular dystrophies caused by glycosylation defects associated with different mutations. The main finding of the disease is disruption of the binding of cellular α-dystroglycan to its extracellular matrix ligands.
O
-mannose β-1,2-
N
-acetylglucosaminyltransferase 1 is one of the pathogenic genes involved in glycosylation defects of α-dystroglycan. Herein, we report a patient diagnosed with muscular dystrophy-dystroglycanopathy 3 with the determination of a compound heterozygote novel mutation on
O
-mannose β-1,2-
N
-acetylglucosaminyltransferase 1 gene, which was not reported before in literature.
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2,568
41
LETTERS TO EDITOR
Television tip over: An avoidable cause of head injury in children
Sachinkumar M Patel, Eswararao Thamatapu, Siddhartha Roychowdhury, Prasad Krishnan
October-December 2018, 13(4):521-522
DOI
:10.4103/JPN.JPN_87_18
PMID
:30937108
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1,912
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Acute neurological complications after congenital structural heart disease surgery
Jogender Kumar
October-December 2018, 13(4):519-519
DOI
:10.4103/JPN.JPN_77_18
PMID
:30937106
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2,018
92
ORIGINAL ARTICLES
Type 1 split cord malformation: The significance of the 3D orientation of the bony spur, its clinical relevance, and surgical nuances
Suyash Singh, Kamlesh S Bhaisora, Kuntal K Das, Satyadeo Pandey, Arun K Srivastava, Sanjay Behari, Raj Kumar
October-December 2018, 13(4):429-436
DOI
:10.4103/JPN.JPN_71_18
PMID
:30937084
Background:
Split cord malformation (SCM) remains an important cause of tethered cord syndrome. SCM type 1, wherein a bony spur separates the two dural sacs, represents a challenging condition to treat. The management can be further complicated by the other associated dysraphic states in the same patient. The bony spur at the level of split cord has been variably classified in the literature. There is, however, a paucity of literature dealing with the three-dimensional disposition of the bony spur and its clinical and operative implications.
Materials and Methods:
Our study included 50 patients (male/female = 24:26) of SCM type 1. The orientation of bony spur was categorized into ventral complete, ventral incomplete, and dorsal types along with simultaneous assessment of their direction in sagittal and axial planes in multiplanar computed tomography (CT) scan. Surgical plan was individualized according to each patient’s morbid anatomy.
Results:
The most common site of bony spur was lumbar region (
n
= 24). Twenty-four (48%) patients had ventral complete type spur, 19 (38%) had ventral incomplete type, and 7 (14%) had dorsal bony spur. Dorsal bony spurs presented with a greater incidence of motor symptoms (71.4%) and bladder disturbances (28.5%), whereas the ventral incomplete type of bony spur was predominantly associated with sensory symptoms (42.1%). Patients with dorsal bony spurs showed better postoperative outcomes when compared to their ventral counterparts.
Conclusion:
Multiplanar assessment of the bony spur using CT scan helps in surgical drilling and improves the outcome. The dorsal SCM variety showed better clinical outcomes when compared to their ventral bony spurs.
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© 2005 - Journal of Pediatric Neurosciences | Published by Wolters Kluwer -
Medknow
Online since 10
th
November, 2005