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   2019| July-September  | Volume 14 | Issue 3  
    Online since September 27, 2019

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Effects of task-oriented activities based on neurodevelopmental therapy principles on trunk control, balance, and gross motor function in children with spastic diplegic cerebral palsy: A single-blinded randomized clinical trial
Ajaya K Sah, Gandhi Karunanithi Balaji, Sahana Agrahara
July-September 2019, 14(3):120-126
DOI:10.4103/jpn.JPN_35_19  PMID:31649770
Purpose: To examine the effects of task-oriented activities based on neurodevelopmental therapy (TOA-NDT) principles on trunk control, balance, and gross motor function in children with spastic diplegic cerebral palsy (SDCP). Materials and Methods: Forty-four children with SDCP, aged 7–15 years, were recruited to participate in the randomized clinical trial. After random allocation, twenty-two (n = 22) children with SDCP participated in TOA-NDT principles and twenty-two (n = 22) in conventional physiotherapy (CPT) program. Each group underwent the treatment for a duration of 60min per day, 6 days a week for 6 weeks. Gross motor function measure-88 (GMFM-88), postural assessment scale (PAS), pediatric balance scale (PBS), and trunk impairment scale (TIS) were the outcome measures used to document the pre- and post-intervention effect. Results: The mean difference of GMFM-88, PAS, PBS, and TIS was 8.53 (5.84–11.23), 0.90 (5.84–11.23), 4.86 (2.93–6.79), and 1.45 (0.30–2.60), respectively. TOA-NDT group showed improvement in all the outcomes. Conclusion: TOA-NDT principles are more beneficial in improving the trunk control, balance, and gross motor function parameters than CPT.
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External occipital protuberance projecting as downward curved horn presenting with intractable occipital pain: Report of a first case
Guru Dutta Satyarthee
July-September 2019, 14(3):173-174
DOI:10.4103/jpn.JPN_94_18  PMID:31649782
External occipital protuberance is normal anatomical entity, rarely it may show hyperostosis and may get prominent and causing pain and examination reveals presence of tender bony swelling. However, such occurrence is extremely uncommon.
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Effectiveness of structured teaching program on knowledge regarding home care management of children with hydrocephalus and shunt among their parents
Archana Murali, Kanmani Job, Suhas Udayakumaran
July-September 2019, 14(3):114-119
DOI:10.4103/jpn.JPN_79_19  PMID:31649769
Background: Parents of children with hydrocephalus play a crucial role in recognizing the early signs of shunt-related complications and to prevent morbidity and mortality. Aim: To evaluate the effectiveness of an educational intervention among the parents of children with hydrocephalus and shunt. Materials and Methods: Quantitative, quasi-experimental one group pretest–posttest design was used for the study. Twenty parents of children (<5 years) with ventricular shunt were selected by non-probability convenience sampling technique from pediatric neurosurgery outpatient department of tertiary care hospital, Kerala, India. Tool 1 was used to assess the demographic and clinical variables of the sample and the child and tool 2 was the structured knowledge questionnaire on home care management of children with hydrocephalus and shunt. Results: The difference in the mean pretest–posttest knowledge score was statistically significant at P < 0.01. There was a significant association between the mean knowledge score of the sample and the age of the mother, the age of the mother at pregnancy, and the previous knowledge from various sources. Conclusion: The study revealed that the parent-centered education was effective in improving the knowledge of parents regarding care of children with hydrocephalus and shunt. It helps them to extend the care of these children from hospital to home and hence improve their quality of life.
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Transfusion-related acute lung injury due to iatrogenic IVIG overdose in Guillain–Barre syndrome
Sanghamitra Ray, Rakesh Kumar Gupta, Deepti Jain
July-September 2019, 14(3):140-142
DOI:10.4103/jpn.JPN_47_19  PMID:31649774
Transfusion-related acute lung injury (TRALI) is a transfusion-related adverse effect associated with high mortality, manifesting with acute respiratory distress and with features of non-cardiogenic pulmonary edema. It is rarely reported following intravenous immunoglobulin (IVIG) infusion and is even rarer in pediatric population. We here present a 12-year-old female child who presented as a case of acute flaccid paralysis and was diagnosed clinically as Guillain–Barre syndrome. As per protocol, she was given IVIG for 4 of the 5 days therapy at the dose of 0.4mg/kg/day before the patient went to another hospital. Subsequently in the next 1 week, she received two more courses of IVIG in two different hospitals following which she developed respiratory distress and was again admitted in our hospital. A diagnosis of TRALI was leveled on clinical ground because of IVIG overdose. Patient subsequently improved on high-flow oxygen therapy and conservative management. This unfortunate case of iatrogenic IVIG overdose just reinforces the fact of proper documentation of treatment to avoid such mishap and also prompt diagnosis and management of this least recognized entity of TRALI.
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Shunt care: More than what beats the eye
Dattatraya Muzumdar
July-September 2019, 14(3):113-113
DOI:10.4103/jpn.JPN_114_19  PMID:31649768
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Arginase deficiency presenting as acute encephalopathy
Leema Pauline Cornelius, Vivekasaravanan Raju, Asir Julin
July-September 2019, 14(3):133-136
DOI:10.4103/jpn.JPN_36_19  PMID:31649772
Urea cycle disorders are rare metabolic disorders that present as encephalopathy with hyperammonemia. Arginase deficiency causing hyperargininemia is one among the urea cycle disorders, which usually presents as spastic diplegia. Hyperammonemic encephalopathy is rare in arginase deficiency. We present a rare case of arginase deficiency presenting as acute encephalopathy in a child.
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Peter plus syndrome: A neurosurgeon’s perspective
Deepak Khatri, Jaskaran S Gosal, Kuntal K Das, Kamlesh S Bhaisora
July-September 2019, 14(3):148-153
DOI:10.4103/jpn.JPN_33_19  PMID:31649776
Peter plus syndrome (PPS) is a rare, hereditary (autosomal recessive) disorder characterized by a mutation in the beta-1,3-galactosyltransferase-like gene (chromosome 13q12), which causes impaired glycosylation of several structural and functional proteins throughout the body. Clinical signs and symptoms of PPS are highly variable and include structural malformations affecting multiple organ systems including central nervous system. We aim to discuss a neurosurgeon’s perspective to PPS in this report. A 2-year-old boy presented with congenital dysmorphic facies, bilateral central corneal opacities, delayed developmental milestones, short-stature (75cm), rhizomelia with brachydactyly, and history of surgery for anal atresia on the second day of life. Screening craniospinal magnetic resonance imaging revealed mild ventriculomegaly, cavum septum pellucidum, cavum velum interpositum, vermian hypoplasia, and normal spine. Cytogenetic analysis showed a mutation in the beta-1,3-galactosyltransferase-like gene on chromosome 13. Clinical picture in our patient suggested the diagnosis of PPS. Parents often seek ophthalmological consultation due to visual impairment predominantly, and this syndrome largely remains unknown among neurosurgeons. Nonetheless, babies with PPS may present with neurological symptoms such as seizures, spastic diplegia, tinnitus, or hearing loss as well as a life-threatening neurosurgical emergency arising due to raised intracranial pressure. Therefore, the role of neurosurgeon becomes crucial in managing these cases.
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Porphyria: An uncommon cause of posterior reversible encephalopathy syndrome
Vinay Agarwal, Namit Singhal
July-September 2019, 14(3):137-139
DOI:10.4103/jpn.JPN_17_19  PMID:31649773
Acute intermittent porphyria (AIP) is rare and the diagnosis is often delayed. It usually presents with abdominal symptoms, behavioural changes, seizures, tachycardia, and hypertension. MRI findings are usually normal or few contrast enhancing lesions may be present. Rarely , reversible vasogenic edema is seen on MRI as T2 weighted and FLAIR hyper intensity without diffusion restriction suggestive of posterior reversible encephalopathy syndrome (PRES). Review of literature suggests that there are only few case reports of AIP associated with PRES. Because diffusion-weighted MRI is normal, the lesions are likely caused by reversible vasogenic edema and transient breakdown of the blood-brain barrier. Treatment of porphyria consists of a high carbohydrate diet supplemented with the use of intravenous glucose and haematin infusions during acute attacks. Management of seizures with commonly used anti-epileptics including phenytoin, valproic acid, carbamazepine and barbiturates can worsen symptoms or precipitate acute attacks because of their enzyme inducing activity. Levetiracetam is the preferred choice these cases. Porphyria is an important differential diagnosis in patients with unexplained abdominal pain along with neuro-psychiatric manifestations. This case report adds to a handful of cases worldwide associating AIP with radiological findings of PRES.
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Acute cerebellitis as a rare treatable cause of obstructive hydrocephalus
Vandana Arya, Virender K Gehlawat, Aashima Singh, Kundan Mittal, Jaya S Kaushik
July-September 2019, 14(3):162-164
DOI:10.4103/jpn.JPN_43_19  PMID:31649779
Acute cerebellitis commonly presents as acute ataxia in children. Rarely, it can result in obstructive hydrocephalus. We report a 10-year-old boy with Mycoplasma infection–associated acute cerebellitis and obstructive hydrocephalus that responded well to conservative management with no residual neurological deficit. Wide recognition of this treatable clinical entity among neurologist would avert unnecessary investigations and ensure rationale management.
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Clinical parameters, management, and outcomes of childhood traumatic brain injury in Ilorin
Ayodeji S Yusuf, Nurudeen A Adeleke, Habeeb K Omokanye, AbdulRasheed A Nasir, Oluwasegun A Kolade
July-September 2019, 14(3):127-132
DOI:10.4103/jpn.JPN_42_19  PMID:31649771
Background: Traumatic brain injury (TBI) is common among children, accounting for 75% of children hospitalized for trauma. Childhood TBI is a leading cause of death from trauma in the pediatric age group and the incidence is on the rise globally. Objective: The objective of this study was to determine the etiology, management, and outcome of childhood TBI in our setting. Subjects and Methods: This is a retrospective study of all cases of childhood TBI. Relevant data extracted from case records were analyzed using a 2011 Statistical Package for the Social Sciences (SPSS; IBM, Armonk, New York) software for Windows, version 20. Results: A total of 168 children with TBI were studied. Of which, 109 (65%) were males and 59 (35%) were females (male/female ratio of 13:7, mean age, 7 ± 4 years). Most of the injuries (138, 82%) occurred outdoor; road traffic crash and fall accounted for 101 (60.1%) and 47 (27.9%) cases, respectively. Pedestrian motor vehicular accident accounted for 41 (41.8%) cases, whereas 30 (30.6%) were due to motorcycle road traffic crash. Good recovery was recorded in 138 (81%) patients, 22 (13.1%) had moderate disability. Mortality rate was 6%. Conclusion: Brain injury from trauma still constitutes a significant part of childhood morbidity and mortality in our setting; these deaths are avoidable in most cases. The outlook can be better if preventive efforts are geared toward domestic and road safety campaign.
  542 31 -
Coexisting spinal intramedullary and intracranial tuberculomas in an immunocompetent child
Vaishali R Ghane, Preeti Shanbag, Ashish Meshram
July-September 2019, 14(3):143-147
DOI:10.4103/jpn.JPN_12_19  PMID:31649775
Pediatric neurotuberculosis manifests commonly as tuberculous meningitis and intracranial tuberculomas. The ratio of occurrence of intracranial to intraspinal tuberculoma reported is 42:1. Intramedullary tuberculomas (IMTs) are rare, and the coexistence of intramedullary and intracranial tuberculoma is extremely rare. We report a case of coexisting intramedullary and intracranial tuberculoma in a 5-year-old boy who presented with fever for 12 days, progressive motor weakness in the lower limbs for 9 days, and retention of urine and constipation for 6 days. Neurological examination revealed signs of compressive myelopathy. Magnetic resonance imaging (MRI) of the spine detected IMT at D4-D5 level of the thoracic cord with perilesional edema. MRI of brain revealed a right frontal tuberculoma. Medical management with antituberculosis therapy and steroids resulted in complete neurological recovery.
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Pneumothorax following bougie-guided intubation in a difficult airway: A report of two cases
Gauri R Gangakhedkar, Pallavi Gaur, Anita N Shetty, Pallavi V Waghalkar, Amit M Dalvi
July-September 2019, 14(3):154-157
DOI:10.4103/jpn.JPN_39_19  PMID:31649777
Patients coming for atlantoaxial dislocation surgery represent a unique subset of difficult intubation. In addition to having restricted neck movements, excessive movements at the neck joint during intubation must be avoided to avoid further compression. In view of the anticipated difficult intubation, adjuncts or introducers may be required to aid intubation, the most commonly used being bougies. Complications are known to occur with the use of bougies but fortunately the incidences are far and few. The most dreaded of these is pneumothorax, secondary to trauma by the bougie. The use of an adult bougie for pediatric intubations could possibly increase the risk of the same. Here, we report two incidences of pneumothorax after bougie-guided intubation.
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Alveolar soft part sarcoma metastasizing to the brain: A rare entity revisited with review of recent literature
Singh Mathuria Kaushal-Deep, Uday Singh Raswan, Altaf Rehman Kirmani, Abdul Rashid Bhat, Irfan Hussain Bhat
July-September 2019, 14(3):158-161
DOI:10.4103/jpn.JPN_52_19  PMID:31649778
A 20-year-old male patient presented with a recent history of two episodes of seizures and Glasgow Coma Scale of E3V3M6. He was drowsy at presentation with bradycardia. On further examination, he was found to be having a 10 × 6cm well-circumscribed mass in the right medial thigh whose fine needle aspiration cytology was suggestive of soft tissue sarcoma. Contrast-enhanced magnetic resonance imaging brain showed enhancing lobulated lesions in bilateral hemispheres with significant edema. A decision to decompress the intracranial space occupying lesion was taken. Left-sided larger brain lesions underwent total gross excision followed by excision of the thigh mass. Histopathology of brain lesion was suggestive of metastatic deposits of alveolar soft part sarcoma, whereas the thigh mass was suggestive of alveolar soft part sarcoma grade 2 according to Fédération Nationale des Centres de Lutte Contre Le Cancer grading system. Postoperative course of the patient was unremarkable and his general condition improved remarkably (Functional Assessment of Cancer Therapy–Brain version 4 score improvement >50% at 1 month). He is in follow-up for the last 12 months and currently has completed chemoradiotherapy and is living a self-sufficient life. Though patients with aforementioned rare diagnosis have overall poor prognosis, decompressive craniotomy with metastasectomy may improve the overall quality of life of such young patients, and further chemoradiotherapy may help in prolonging life with acceptable level of comorbidity. This case is being discussed here in terms of the rarity of the final diagnosis, the management strategy used, and the quality of life improvement.
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A unique pediatric case of intratumoral hemorrhage in a sporadic vestibular schwannoma
Batuk Diyora, Bhagyashri Bhende, Nitin Kotecha, Mazharkhan Mulla, Gagan Dhal, Naren Nayak
July-September 2019, 14(3):165-168
DOI:10.4103/jpn.JPN_44_18  PMID:31649780
Vestibular schwannomas (VSs) are tumors that commonly occur in the eighth cranial nerve. They are usually associated with type 2 neurofibromatosis. They are uncommon in children, and sporadic cases of pediatric VS are even rarer. In general, VSs are benign lesions with less than 1% chance of intratumoral hemorrhage. Adult cases of hemorrhage in VS are well documented. We present the first pediatric case of intratumoral hemorrhage in VS in the absence of any features of NF in an 11-year-old child who complained of holocranial headache and sensorineural hearing loss in the left ear. We further discuss the pathogenesis and clinical features, and review the literature of intratumoral hemorrhage in patients of VS.
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Chiari Malformation Type I in a patient with a novel NKX2-1 mutation
Daniel Goncalves, Lara Lourenço, Micaela Guardiano, Cintia Castro-Correia, Mafalda Sampaio, Miguel Leão
July-September 2019, 14(3):169-172
DOI:10.4103/jpn.JPN_108_18  PMID:31649781
Chiari Malformation Type 1 is a congenital, condition characterized by abnormally shaped cerebellar tonsils that are displaced below the level of the foramen magnum. NKX2-1 gene encodes a transcription factor expressed during early development of thyroid, lung, and forebrain, and germline NKX2-1 mutations can lead to dysfunction in any of these three organs, resulting in brain–lung–thyroid syndrome. There have been few reports of structural brain anomalies in patients with an NKX2-1-related disorder. We report the first case of a girl with a genetically identified mutation in NKX2-1 that presents with a Chiari Malformation Type 1, eventually expanding the phenotypic spectrum of NKX2-1-related disorders while also highlighting a novel heterozygous pathogenic variant at exon 3 that disrupts the reading framework, originating an NKX2-1 protein with a different C-terminal.
  459 12 -
Phenotype of NDUFV1-related disease
Josef Finsterer, Sinda Zarrouk-Mahjoub
July-September 2019, 14(3):175-176
DOI:10.4103/jpn.JPN_124_18  PMID:31649783
  390 6 -
Diphtheritic polyneuropathy
Beuy Joob, Viroj Wiwanitkit
July-September 2019, 14(3):177-177
DOI:10.4103/jpn.JPN_136_18  PMID:31649784
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