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2020| July-September | Volume 15 | Issue 3
Online since
November 6, 2020
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ORIGINAL ARTICLES
Comparing sedative effect of dexmedetomidine versus midazolam for sedation of children while undergoing computerized tomography imaging
Reza Azizkhani, Farhad Heydari, Mohammadreza Ghazavi, Maryam Riahinezhad, Mohammadreza Habibzadeh, Ali Bigdeli, Keihan Golshani, Saeid Majidinejad, Abolfazl Mohammadbeigi
July-September 2020, 15(3):245-251
DOI
:10.4103/jpn.JPN_107_19
Background:
Pediatric anxiety and restlessness may create issues and difficulties in performing accurate diagnostic studies even noninvasive ones, such as radiological imaging. There are some agents that will help to get this goal. This study aimed to compare the intranasal effect of dexmedetomidine (DEX) and midazolam (MID) for sedation parameters of children undergoing computerized tomography (CT) imaging.
Materials and Methods:
A double-blind clinical trial was conducted on 162 eligible children who underwent CT imaging. These patients were divided into two groups including MID (
n
= 81) with dose of 0.3 mg.kg and DEX (
n
= 81) with dose of 3 μg.kg, which was consumed intranasally. The mean blood pressure (MBP), respiratory rate (RR), heart rate (HR), and oxygen saturation (O2Sat) in children were recorded. Then, time of initiation, level of sedation, and duration effect of medication were measured at 0, 10, 20, and 30 min. Parents and clinician satisfaction score was asked. All data were analyzed using the Statistical Package for the Social Sciences (SPSS) software by
t
test and chi-square test.
Results:
Decreasing in MBP and HR was higher in DEX group than MID group (
P
< 0.001), whereas decrease of O2Sat in MID group was higher than DEX group (0.009). Starting time of sedation (22.72 ± 11.64 vs. 33.38 ± 10.17,
P
= 0.001) was lower in DEX group. Parents (
P
< 0.001) and physician (
P
< 0.001) satisfaction score was higher in DEX group than the MID group.
Conclusion:
Using 3 μg/kg intranasal DEX for sedation of 1–6-year-old children was a suitable method to undergo noninvasive studies such as CT imaging. Intranasal DEX is superior to MID due to higher sedation satisfactory, faster starting effect of sedation, and lower side effects and complications. Nevertheless, in children with hemodynamic instability DEX is not an appropriate choice.
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Giant tuberculomas of brain: Rare neoplastic mimic
Chandradev Sahu, Nishant Bhargava, Vivek Singh, Pranav Dwivedi
July-September 2020, 15(3):204-213
DOI
:10.4103/jpn.JPN_78_19
Objective:
Tuberculosis continues to be a major infectious disease in developing parts of the world. Primarily central nervous system tuberculosis manifests as meningitis, tuberculoma, or a brain abscess; however, rarely it may manifest as a large neoplastic mass such as lesion known as giant tuberculoma. Especially in central parts of India, the incidence of giant tuberculoma is quite high in pediatric population that too in posterior fossa of brain. Often, they are wrongly reported as neoplastic masses on imaging. The objective of this study was to evaluate different imaging appearances of a giant tuberculoma.
Materials and Methods:
In this prospective study, all cases of giant tuberculoma presenting to a large tertiary care center in central India for 2 years (duration 2016–2018) were imaged and followed up. A total of nine patients, six females and three males, aged 4–16 years were studied on a 3-Tesla Siemens magnetic resonance imaging (MRI) scanner.
Results:
In total, nine patients were included with 11 giant tuberculomas. Of 11, eight were infratentorial and three were supratentorial in location. On T2-weighted image sequence, these lesions showed central hypointensity with a peripheral hyperintense rim. Most observed finding on T1-weighted image sequence was central isointensity with peripheral hyperintense rim. Advanced imaging sequences such as magnetic resonance spectroscopy and magnetization transfer were also applied.
Conclusion:
To the best of our knowledge, this is the largest series of giant tuberculoma in the pediatric population reported so far in any part of the world. We have described the various MRI imaging findings of this lesion in great details. Management of such rare cases and pertinent literature is reviewed briefly.
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Levetiracetam versus fosphenytoin in pediatric convulsive status epilepticus: A randomized controlled trial
Anusha Handral, Basavraja G Veerappa, Vykuntaraju K Gowda, Sanjay K Shivappa, Naveen Benakappa, Asha Benakappa
July-September 2020, 15(3):252-256
DOI
:10.4103/jpn.JPN_109_19
Objectives:
The aim of this study was to compare the efficacy and safety of intravenous levetiracetam and fosphenytoin in the management of pediatric status epilepticus.
Materials and Methods:
This is an open-labeled randomized controlled trial, conducted at tertiary care pediatric intensive care unit. Subjects between 1 month and 18 years who presented with status epilepticus were enrolled. If seizures persisted even after two doses of lorazepam, participants were randomized to receive either fosphenytoin 30 mg/kg or levetiracetam 30 mg/kg intravenously and followed up till 48h, for seizure recurrence and adverse drug effects. Outcome measures were cessation of seizures within 10–20 min following the end of the infusion of drugs fosphenytoin and levetiracetam, respectively, and no recurrence of seizures was noted over next 48h.
Results:
Subjects in both study groups were comparable in baseline characteristics. Seizures stopped in 54 (93.1%) and 53 (91.4%) in fosphenytoin and levetiracetam groups, respectively (
P
= 1.000). Seizure recurrence was noted in 13 (22.4%) and 10 (17.2%) patients in fosphenytoin and levetiracetam groups, respectively (
n
= 0.485). In fosphenytoin group, one (1.7%) child had bradycardia, two (3.4%) children required inotropes, and three (5.2%) children required intubation. In levetiracetam group, none had bradyarrhythmia, required inotropes, and intubation was required in one (1.7%) child each. No statistically significant difference was observed in outcome parameters in two groups.
Conclusion:
Levetiracetam is as efficacious as fosphenytoin in control of pediatric status epilepticus and is associated with lesser side effects.
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CASE REPORTS
A rare case of dengue hemorrhagic fever with myocarditis and intracranial hemorrhage
Shalendra Singh, Pothireddy Sreenivasulu, Saurabh Sud, Shibu Sasidharan, Ankur Gupta
July-September 2020, 15(3):320-321
DOI
:10.4103/jpn.JPN_48_20
We present a rare case of dengue hemorrhagic fever presenting with severe myocardial dysfunction along with intracranial hemorrhage and coagulopathy. It warrants every clinician to be vigilant in diagnosis and management so as to prevent life-threatening morbidity and mortality.
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ORIGINAL ARTICLES
Dynamic surface exercise training in improving trunk control and gross motor functions among children with quadriplegic cerebral palsy: A single Center, randomized controlled trial
Sravan Reddy, Gandhi Karunanithi Balaji
July-September 2020, 15(3):214-219
DOI
:10.4103/jpn.JPN_88_19
Background:
Dynamic surface provides proprioceptive and vestibular feedback with optimal level of arousal. The activities on unstable environment have greater sensorimotor experiences. There is a lack of evidence examining the benefits of dynamic surface exercise training (DSET) among the children with spastic quadriplegic cerebral palsy (CP).
Aim:
The aim of the study was to analyze the effect of dynamic surface exercises on trunk control and gross motor functions in children with quadriplegic CP.
Materials and Methods:
A total of 30 children with spastic quadriplegic CP with Gross Motor Function Classification System of levels III and IV were recruited by the simple random sampling method (random number generator) to participate in this randomized controlled study. Recruited children were randomly divided into two groups, DSET group and standard physiotherapy training group. Both the groups received active training program lasting for 60 min, 4 days/week for 6 weeks. Gross Motor Function Measure (GMFM)-88 and Pediatric Balance Scale (PBS) scores were recorded at baseline, and at the end of 6-week post-intervention.
Results:
Total 30 children with quadriplegic CP with mean age 6.64 ± 2.15 years in experimental group and 6.50 ±1.59 years in control group participated in the study. Experimental group showed a significant difference for GMFM and PBS scores between pre- and post-intervention with
P
< 0.005. A significant difference was observed in GMFM scores between experimental and control group with
P
< 0.005.
Conclusion:
Six-week dynamic surface exercise therapy along with standard physiotherapy was effective in improving trunk control and gross motor function performance among children with spastic quadriplegic CP aged 6–12 years.
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CASE REPORTS
Intracranial tubercular subdural empyema: A case report and review of literature
Vinod K S Gautam, Sambhav Upadhyay
July-September 2020, 15(3):266-269
DOI
:10.4103/jpn.JPN_134_18
Tuberculosis (TB) is a major health problem in developing countries. Approximately 1 million children became ill with TB in year 2016. Neurotuberculosis is associated with high mortality and morbidity. Intracranial tubercular subdural empyema is extremely rare in pediatric population. Authors report a case of 13-year-old male child who had presented with recurrent seizures and features of raised intracranial pressure. Neuroradiology of skull revealed intracranial subdural empyema. He was managed effectively with burr hole evacuation of the pus, postoperative neuroradiological assessment, and prompt empirical antitubercular therapy. Authors propose that high index of suspicion, neuroradiology, and prompt therapeutic interventions are necessary for good prognosis of this rare yet curable disease.
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A rare case of ataxia-telangiectasia-like disorder with
MRE11
mutation
Rohan R Mahale, Nishanth Reddy, Pavagada Mathuranth, Pooja Mailankody, Hansashree Padmanabha, Chandra Sadnavalli Retnaswami
July-September 2020, 15(3):283-285
DOI
:10.4103/jpn.JPN_152_19
The prototypical disorder for the early-onset cerebellar ataxia with cerebellar atrophy is ataxia telangiectasia (AT). AT belongs to “DNA-repair defects” or “DNA-repair deficiency” disorders. The
ATM
(Ataxia-telangiectasia mutated kinase) gene mutated in AT is central to deoxyribonucleic acid (DNA) damage response (DDR) signaling. Other genes implicated in DDR signaling are MRE11A (
Meiotic recombination 11
). Mutation of this gene results in ataxia-telangiectasia-like disorder (ATLD). We report a boy who presented with mild cerebellar ataxia and dystonia with cerebellar atrophy on brain imaging. Clinical exome sequencing showed compound heterozygous variants in
MRE11
gene. He was diagnosed as ATLD, which has not been reported in Indian subcontinent so far.
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Giant terminal myelocystocele: A case report
Gaurav Varshney, Deepak K Gupta
July-September 2020, 15(3):286-289
DOI
:10.4103/jpn.JPN_157_19
Myelocystoceles, also known as syringoceles, syringomyeloceles, and lipomeningomyelocystoceles, represent 5% of all lumbosacral skin-covered masses. Terminal myelocystocele (TMC) is a rare variant of spinal dysraphism. At times, patients with TMCs can present with a huge lumbosacral mass (giant TMC). A 14-month-old female child presented with progressive increasing swelling in the lumbosacral region (35 cm × 35 cm × 30 cm) since birth with inability to move both lower limbs. Magnetic resonance imaging revealed a dilated terminal central canal herniating through a spina bifida defect (from L4 to S2) into a huge meningocele, suggestive of a giant TMC. The girl was operated on successfully and was doing well at 6 months follow-up, although neurologically unchanged. Giant TMC is a rare entity and only a few case reports are available in literature. Herein we present a case with TMC with the largest dimensions reported till date.
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An atypical presentation of Joubert syndrome due to a novel mutation in
ZNF423
gene
Deepika Sivathanu, Dhanarathnamoorthy Vetrichelvan, Umamaheswari Balakrishnan, Ranjith Kumar Manokaran
July-September 2020, 15(3):294-296
DOI
:10.4103/jpn.JPN_168_19
Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis. Infants with Joubert syndrome usually present with hypotonia, developmental delay, oculomotor apraxia, and respiratory abnormalities. Seizures in Joubert syndrome are not uncommon. Infantile spasms as presentation are hitherto unreported. Here we present a rare case of an 8-month-old infant diagnosed as Joubert syndrome with
ZNF423
mutation who presented with West syndrome. Early diagnosis and appropriate management of the child effectively reduced the spasms.
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NEUROIMAGINGS
Osteoporosis pseudoglioma syndrome
Vykuntaraju K Gowda, Hemadri Vegda, Sanjay K Shivappa, Naveen Benakappa
July-September 2020, 15(3):334-335
DOI
:10.4103/jpn.JPN_107_20
Osteoporosis pseudoglioma syndrome is characterized by intellectual disability, osteoporosis of bones and eye abnormalities. We report, a 14-year-old female child presented with walking difficulty with frequent falls followed by deformity of left leg. On examination, bilateral micropthalmia, microcornea, corneal clouding, vitreo-retinal detachment, and atrophic irises. She had deformity of left lower limb, anterior bowing of both tibia, lax skin, hyperextensible joints. Skeletal survey showed severe osteoporosis with fracture of left femur and fish mouth vertebra. She had normal serum calcium, phosphorus, and alkaline phosphatase levels. Targeted next generation testing revealed homozygous pathogenic variant in exon 6 at c.1096G>A/p.V366 M and confirmed by Sanger sequencing. Early diagnosis and treatment are helpful in preventing further fractures and osteoporosis.
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ORIGINAL ARTICLES
Neonatal seizures and future epilepsy: Predictive value of perinatal risk factors, electroencephalography, and imaging
Tugba Hirfanoglu, Zeynep Ozturk, Guntulu Sahin Gokdogan, Ibrahim Murat Hirfanoglu, Eray Esra Onal, Canan Turkyilmaz, Ebru Ergenekon, Esin Koc
July-September 2020, 15(3):190-198
DOI
:10.4103/jpn.JPN_159_18
Context:
There are limited data in the literature about the relationship between neonatal seizures and subsequent epilepsy.
Aims:
This study aimed to identify the predictive value of perinatal factors, etiologies, electroencephalography (EEG), and cranial ultrasonography (USG) for future epilepsy after neonatal seizures.
Materials and Methods:
A total of 92 children with epilepsy who had seizures during their neonatal period were retrospectively evaluated whether the contribution of perinatal, natal, and postnatal risk factors confining clinical, laboratory, EEG, and imaging to subsequent epilepsy. Chi-square, uni, and multivariate logistic regression were applied to find out predictive factors for subsequent epilepsy.
Results:
The rate of epilepsy was 57.6 % during 1–6 years follow-up. Birth weight, Apgar scores at first and fifth minutes, resuscitation history, abnormal neurological examination, etiology, response to the treatment, abnormal EEG, or USG findings were the most important risk factors for future epilepsy in univariate analysis (
P
< 0.05). Furthermore, asphyxia, fifth minute Apgar scores, response to the treatment, USG, and EEG were independent predictors (
P
< 0.05) for subsequent epilepsy in multivariate logistic regression. No relationship was found between subsequent epilepsy and mode of delivery, seizure onset time, and seizure types (
P
> 0.05).
Conclusion:
Although there are recent promising and advanced techniques in neonatal intensive care units, asphyxia is still one of the most important risk factors for not only poor neurological conditions but also for future epilepsy after neonatal seizures. Apgar scores, treatment with multiple antiepileptic drugs, poor background EEG activity, and abnormal neuroimaging seem to have strong predictive values for developing subsequent epilepsy. Therefore, patients with a history of neonatal seizures should be closely followed up to decrease the risk of long-term outcomes and early detection of epilepsy.
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CASE REPORTS
Giant anterior fontanel encephalocoele: A rare case report and review of literature
Bikash R Behera, Sanjib Mishra, Manmath K Dhir, Jyotirmayee Biswal, Siba N Bhujabal
July-September 2020, 15(3):257-260
DOI
:10.4103/jpn.JPN_143_16
An encephalocoele is a spectrum of cranial dysraphism caused due to defective closure of neural tube during early embryonic life, leading to formation of a cerebrospinal fluid (CSF)–filled sac containing brain tissue and meninges, all herniated through a bony defect of the skull. Anterior encephalocoeles, though rare in the Western world, are relatively common in southeast Asia, including some parts of India. Among anterior encephalocoeles, fronto-ethmoidal type is the most common followed by orbital encephalocoeles. Giant encephalocoeles are rare with few published short series, which are mostly located in occipital region. Giant interfrontal encephalocoele through a wide anterior fontanel is the rarest one and is limited to three case reports, including this index case. Here we report a case of giant anterior fontanel encephalocoele in a 20-day-old neonate and discuss various aspects of its management.
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Freiberg’s infarction as the first clinical presentation of Sneddon syndrome
Debopam Samanta, Sarah Cobb
July-September 2020, 15(3):290-293
DOI
:10.4103/jpn.JPN_159_19
Sneddon syndrome is a rare, non-inflammatory vasculopathy that generally occurs in the third to fourth decade of life but may rarely present in the pediatric population. It is characterized by the skin finding of livedo racemosa and recurrent ischemic strokes. Other common neurologic manifestations include migraine and early cognitive decline. It may be associated with systemic lupus erythematosus (SLE) and antiphospholipid antibodies, or as in our case, thrombophilia and autoimmune workup may be negative. Optimal treatment for Sneddon syndrome is unknown. Here we report the case of an 18-year-old female, with a 3-year history of livedo racemosa and migraines, who presented with acute expressive aphasia and was found to have an ischemic stroke and an evidence of prior strokes on magnetic resonance imaging (MRI). Autoimmune and cardioembolic causes of stroke were ruled out. Given the findings of livedo racemosa and evidence of recurrent strokes, she was diagnosed with Sneddon Syndrome. Five years earlier, she had been diagnosed with Freiberg disease, which is the avascular necrosis of the second metatarsal head and was likely her first symptom of Sneddon syndrome. This is the first report of Freiberg disease associated with Sneddon syndrome. This paper highlights a rare cause of stroke in the pediatric population as well as the first report of avascular necrosis associated with Sneddon syndrome. Several manifestations of Sneddon syndrome can precede strokes by years. An awareness of those features may allow for the adoption of primary stroke prevention.
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52
Anesthetic management of an adolescent with hypofibrinogenemia posted for cervical deformity correction!
Mayank Tyagi, Indu Kapoor, Girija P Rath
July-September 2020, 15(3):322-324
DOI
:10.4103/jpn.JPN_59_20
A 15-year-old boy diagnosed as case of cervical kyphosis, atlantoaxial dislocation, and hypofibrinogenemia was posted for corrective surgery under general anesthesia. His preoperative plasma fibrinogen levels and other coagulation profile were deranged. He was diagnosed with type 1 congenital fibrinogen abnormality, that is, hypofibrinogenemia. Preoperative blood products including cryoprecipitates were transfused to correct fibrinogen levels and coagulation profile. Cryoprecipitate was transfused at the dose of 1 bag per 10kg body weight per day. During intraoperative period, blood products were transfused following blood loss of 1100mL. Postoperatively the repeat laboratory investigations after 20 h revealed normal PF levels (211 mg/dL) with normal coagulation profile. He was discharged five days later with the uncomplicated postoperative course.
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Recurrent urinary tract infection in craniopharyngioma: A harbinger to a sinister diagnosis!
Aashima Dabas, Sangeeta Yadav, Mridna Jha
July-September 2020, 15(3):308-310
DOI
:10.4103/jpn.JPN_20_20
Craniopharyngiomas are benign tumors of neuroepithelial origin, believed to arise from remnants of Rathke’s pouch. Their proximity to vital structures of the visual pathway and hypothalamus leads to both neurological and endocrinological complications. Endocrinal complications are seen in 40%–87% of the affected and can develop at presentation or post-surgery and radiotherapy. Central diabetes insipidus (CDI) is a common endocrinopathy associated with craniopharyngioma, but rarely a presenting symptom before or after surgery. CDI most commonly presents with polyuria and polydipsia. Here, we report a postoperative child with craniopharyngioma where recurrent urinary tract infection and hydronephrosis were initial clues to diagnose CDI.
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More than it meets the eye! Vision loss as a presenting symptom of von Hippel–Lindau disease
Aditya V Nair, Asish Vijayaraghavan, Pullumpallil T Alexander, Arun M Mani, Divya Giridhar, Vivek Mathew
July-September 2020, 15(3):314-316
DOI
:10.4103/jpn.JPN_24_20
Optic neuritis has many mimics. Careful history and fundus examination are paramount in making the correct diagnosis. Here we present a case of bilateral vision loss in a 15-year-old male who subsequently developed hypertensive crises. Subsequent evaluation showed pheochromocytoma and genetic screening confirmed Von Hippel–Lindau disease.
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51
Macrophagic myofasciitis: A report of two south Indian infants
Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Yasha Muthane, Gayathri Narayanappa
July-September 2020, 15(3):279-282
DOI
:10.4103/jpn.JPN_141_19
Macrophagic myofasciitis is a rare inflammatory myopathy characterized by peri-fascicular macrophage infiltration without muscle necrosis. Here we report two children presented in the early infancy. Case 1: a 5-month-old girl presented with lack of neck control and floppiness. On examination, generalized hypotonia, absent deep tendon reflexes, and motor power of 2/5 (Medical Research Council grade) were observed. Case 2: a 17-day-old boy presented with poor feeding, tachypnea, and floppiness. On examination, decreased tone in all limbs and power of <2/5 in all limbs with absent reflexes were observed. Routine investigations including serum Creatine phosphokinase of both babies were normal. Muscle biopsy showed features of macrophagic myofasciitis in both infants. Any floppy infant of lower motor neuron type macrophagic myofasciitis should be considered in addition to inherited causes.
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NEUROIMAGINGS
Bilateral xanthogranuloma of the choroid plexus in an infant
Sachinkumar M Patel, Sanjukta De, Sayan Das, Prasad Krishnan
July-September 2020, 15(3):330-331
DOI
:10.4103/jpn.JPN_160_18
Xanthogranuloma of the choroid plexus is a rare, usually incidentally detected and commonly bilateral intraventricular lesion found in the pediatric population. Its characteristic imaging features are described.
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Orbital apex syndrome: a clinico-anatomical diagnosis
Lokesh Saini, Biswaroop Chakrabarty, Atin Kumar, Sheffali Gulati
July-September 2020, 15(3):336-337
DOI
:10.4103/jpn.JPN_114_20
An 8-month-old girl presented with fever, restricted left eye movements and increasing proptosis for 8 days. On examination she had left orbital cellulitis, relative afferent pupillary defect and ophthalmoplegia. Contrast-enhanced magnetic resonance imaging (MRI) brain with orbits revealed orbital apex syndrome (OAS) with cavernous sinus thrombosis. Orbital apex is located posteriorly in the orbit and characterised by involvement of cranial nerves II, III, IV, VI and ophthalmic division of Vth nerve. The close clinico-anatomical differentials of OAS are cavernous sinus and superior orbital fissure syndrome. The current case was treated successfully with intravenous antibiotics and anticoagulation therapy.
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ORIGINAL ARTICLES
Comparison the oral premedication of midazolam, dexmedetomidine, and melatonin for children’s sedation and ease of separation from parents before anesthesia
Bijan Yazdi, Mahsa Mombeini, Hesameddin Modir, Alireza Kamali
July-September 2020, 15(3):231-237
DOI
:10.4103/jpn.JPN_95_19
Background:
Children’s fear of surgery and preoperative separation from parents can contribute to anxiety and distress in children undergoing surgery. The study addressed the comparable efficacy of oral premedication of midazolam, dexmedetomidine, and melatonin to alleviate preoperative anxiety and easing the children’s separation from parents.
Materials and Methods:
A double-blinded trial enrolled three equal-sized groups of children (
n
= 153, aged 2–10 years) undergoing elective surgery who received oral midazolam, melatonin, and dexmedetomidine 30 min before induction. The observation sedation score, and ease of separation, acceptance of drug both preceding and following premedication administration were assessed and recorded every 5min till anesthesia induction.
Results:
A significant difference was observed in the mean scores of sedation before premedication and after separation from parents, as well as in the degree of the separation when comparing between the midazolam and melatonin groups and the dexmedetomidine and melatonin groups (
P
< 0.001). The scores were significantly lower in the melatonin group than the other two groups, whereas no significant difference was found in those between the midazolam and dexmedetomidine groups, as well as in the acceptance of anesthesia induction between the midazolam and melatonin groups (
P
= 0.250). The differences were significant between the midazolam and dexmedetomidine groups (
P
= 0.002) and melatonin and dexmedetomidine groups (
P
< 0.001) and anesthesia induction was effective in the dexmedetomidine group than that in the other two groups.
Conclusion:
Dexmedetomidine is more effective in acceptance of anesthesia induction. Furthermore, the midazolam and dexmedetomidine groups indicated better ease of separation and sedation scores than melatonin.
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Urodynamic study findings prior to myelomeningocele repair in neonates
Ibrahim Alatas, Kerem Ozel, Nursu Kara, Huseyin Canaz
July-September 2020, 15(3):220-223
DOI
:10.4103/jpn.JPN_91_19
Introduction:
Myelomeningocele (MMC) is the most common cause of neurogenic bladder dysfunction in children. Neurogenic bladder dysfunction is developed before birth due to autonomous nervous system affected prenatally in patients with MMC. The aim of this study was to share urodynamic study findings before MMC repair and to discuss the correlation with neurological evaluation.
Materials and Methods:
We prospectively studied 37 patients who underwent surgery for MMC repair in our institution in the first 20 h of their lives between 2013 and 2016. All patients were evaluated by a neurosurgeon, neonatologist, and pediatric surgeon. Urodynamic study was performed in first 18h of life before MMC repair in all patients. Lesion level, occurrence of hydrocephalus, neurological functions, spinal deformities, and urodynamic study results were analyzed.
Results:
The study included 18 female and 19 male patients. Overactive detrusor was detected in 22 patients, and hypoactive detrusor was detected in 5 patients. Overactive sphincter muscle was detected in 32 patients, and hypoactive sphincter was detected in 2 patients. Detrusor–sphincter dyssynergia was present in 34 patients.
Conclusion:
Detailed analysis of urodynamic study findings in larger patient groups may be important to understand the physiopathology of prenatal damage in patients with MMC.
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TECHNICAL REPORT
Sitting position for posterior fossa tumor in infants: A technical report
Dattatraya Muzumdar, Shyle Mehta, Dikpalsingh Jadhav
July-September 2020, 15(3):169-170
DOI
:10.4103/jpn.JPN_252_20
Surgery for posterior fossa tumors in sitting position is performed in very few neurosurgical centers all over the world. It carries the potential risk of air embolism with consequent related morbidity. However, posterior fossa surgery in the sitting position is still performed in neurosurgical centers with considerable expertise including neurosurgeons and neuroanesthesiologists. In older children and young adults, the sitting position is given with the appropriate modifications in the operating surgical table and the head fixation system. In infants, due to the small size of the baby and delicate physiology, the sitting position using standard protocol is challenging. A custom designed chair and its suitability for sitting position in infants is described. The chair assembly is secured to the operating surgical table. It is meant to align the infant in sitting position in an appropriate manner. The relevant surgical details including the advantages and limitations are discussed.
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CASE REPORTS
Arrested hydrocephalus complicated by growing skull fracture - A case report with review of literature
Ashok Kumar, Gaurav Jaiswal, Vivek K Kankane, Pavan K Kumar, Tarun K Gupta
July-September 2020, 15(3):261-265
DOI
:10.4103/jpn.JPN_100_18
Growing skull fracture (GSF) is an extremely uncommon entity and accounts for less than 1% of the skull fractures. This type of fracture is commonly seen in children of less than 3 year of age and two third of them occur in less than one year of age. Occurrence of GSF is higher in infancy and early childhood because of rapid growth of brain and skull take place in initial two year of the life. Dural tear is most common etiological factor that leads to growing skull fracture. Growing skull fracture with arrested hydrocephalus is a rare association and has been described only once in literature. We hereby, are reporting a case of one year child presented with gradual progressive head enlargement with progressive subgaleal swelling over left parietal region. patient sustained head injury 4 month back due to fall from bed. After all relevant radiological examinations, cyst excision and water tight dura closure was done. Patient improved and till last follow up there was not any recurrence of cyst.
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Ischemic stroke in a 6-month-old child presenting with hemiplegia: A rare case report
Cuneyt Ugur, Naima Abukar Ali
July-September 2020, 15(3):317-319
DOI
:10.4103/jpn.JPN_38_20
Ischemic stroke is a clinical condition resulting from a decrease in blood flow to the brain. It is rare in children, especially more rare in infants. The symptoms in the patients vary according to the age of the patient and the affected vessel. Diagnosis of pediatric stroke is not simple and requires neuroimaging reference. If the diagnosis is delayed and the treatment is not started as soon as possible, the probability of disability or death of the patient increases. In this report, we present a 6-month-old girl with hemiplegia, who was admitted to the emergency department with a complaint of not able to move her left side and who was diagnosed as ischemic stroke. Our case is the youngest ischemic stroke detected in infant period that we know of in the literature. In this case report, we aimed to remind that ischemic stroke is one of the causes of neurological symptoms occurring during infant period.
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Acute, localized paroxysmal pain: An uncommon ictal manifestation
Sasikumar Sheetal, Sasikumar Amith Kumar
July-September 2020, 15(3):311-313
DOI
:10.4103/jpn.JPN_22_20
Pain is a recognized, but rare manifestation of epileptic seizures. Pain associated with seizures can be severe and disabling. Ictal pain is usually associated with paresthesia, thermal sensations, or somatognostic disturbance. If localized, paroxysmal pain is the sole manifestation, seizure may be often overlooked as a cause for pain, leading to unnecessary investigations and erroneous treatment, resulting in the prolongation of suffering. We hereby report the case of a 6-year-old boy, whose initial manifestation was multiple episodes of localized, intense, disabling paroxysms of pain over multiple body sites. He was diagnosed to have focal unaware seizures, and was started on antiepileptic drugs, leading to complete resolution of symptoms.
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Early-onset parkinsonism and halo sign: Beta-propeller protein-associated neurodegeneration
Debopam Samanta, Raghu Ramakrishnaiah
July-September 2020, 15(3):325-327
DOI
:10.4103/jpn.JPN_62_20
A 13-year-old girl with infantile-onset self-resolving epilepsy and developmental delay had an unremarkable workup, including normal brain magnetic resonance imaging (MRI) and chromosomal microarray. During adolescence, she presented with features of early-onset parkinsonism: gait dyspraxia, freezing during walking, cogwheel rigidity in both upper extremities, and left arm dystonia. Repeat brain MRI showed iron deposition on the substantia nigra (SN) and basal ganglia, with hyperintense halo sign around a central linear hypointensity within the SN on the T1 imaging sequence. Whole-exome sequencing with trio revealed
de novo
heterozygote mutation in
WDR45
to confirm the diagnosis of beta-propeller protein-associated neurodegeneration (BPAN). BPAN is a rare neurodegenerative with brain iron accumulation disorder with the pathognomonic halo sign. Preferential iron deposition over the SN compared to globus pallidus can distinguish this condition from other iron storage disorders. BPAN does not cause the radiologic eye of the tiger sign seen in other forms of iron storage disorders. Other types of childhood-onset parkinsonian disorders, such as
PINK1
-related Parkinson disease and Parkin-type Parkinson disease, do not have iron storage in the brain. This report describes a case of early-onset parkinsonism secondary to a mutation in
WDR45.
It underscores the importance of brain MRI to differentiate this condition from other childhood-onset parkinsonism and also other brain iron accumulation disorders. This report also shows iron deposition over the pituitary as a novel site of iron deposition in BPAN and emphasizes the presence of peri-dentate white matter volume loss and hyperintensity, which is another key radiologic abnormality associated with BPAN.
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Hypomyelination and congenital cataract: Three siblings presentation
Zeynep Selen Karalok, Esra Gurkasb, Kursad Aydinc, Serdar Ceylaner
July-September 2020, 15(3):270-273
DOI
:10.4103/jpn.JPN_161_18
Hypomyelination and congenital cataract (HCC) is a condition, which is caused by mutations in the
FAM126A
gene and is characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in both the central and peripheral nervous system. We present the findings of three siblings who applied to us with the same clinical features. These patients were referred to our clinic due to the presence of bilateral congenital cataract and progressive neurological impairment with peripheral neuropathy. Brain magnetic resonance imaging (MRI) showed diffuse hypomyelination, whereas neurophysiological studies showed sensorimotor peripheral polyneuropathy. Cases with hypomyelination in MRI represent the largest group of undiagnosed diseases among patients with leukoencephalopathies. To diagnose cases with peripheral neuropathy, their clinical and neuroradiological findings must be identified. These findings can guide clinicians to appropriate molecular investigations.
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Hemiconvulsion-hemiplegia-epilepsy syndrome: A case series
Harshit Bhargava, Deepak Dwivedi
July-September 2020, 15(3):274-278
DOI
:10.4103/jpn.JPN_27_19
Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is an uncommon outcome of prolonged focal status epilepticus in childhood. We present four cases with age between 6 months and 3 years diagnosed with HHE syndrome. Two patients were lost to follow-up; other two cases had severe developmental delay and refractory epilepsy. An early diagnosis, a good seizure control, and a better understanding of the underlying mechanisms of HHE are needed to improve the outcome of this condition.
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Syndromic autism spectrum disorder: Let us not forget about succinic semialdehyde dehydrogenase deficiency. A case report with literature review
Annio Posar, Paola Visconti
July-September 2020, 15(3):297-300
DOI
:10.4103/jpn.JPN_171_19
We describe a girl with syndromic autism spectrum disorder (ASD), who at the end of the medical workup proved affected by a succinic semialdehyde dehydrogenase (SSADH) deficiency, a rare autosomal-recessive disorder of degradation of the γ-aminobutyric acid (GABA), that is, the most important central nervous system inhibitory neurotransmitter. The diagnosis of SSADH deficiency was made using a next-generation sequencing (NGS) multigene panel for neurological disorders and was confirmed by urinary organic acid analysis. Compared to the classic description of SSADH deficiency, our patient presented a less severe picture. In fact, she had no epilepsy, and her neuromotor signs were soft, and over time they became less evident. This case report emphasizes the importance of considering in a patient with syndromic ASD, the possible diagnosis of SSADH deficiency, even when all its typical signs are not present. Nowadays, the use of NGS multigene panels could facilitate the etiological diagnosis in individuals with syndromic ASD.
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Dengue encephalitis in children “Not an uncommon entity but is rarely thought of”: A case report
Sai Chandar Dudipala, Prashanthi Mandapuram, Laxman Kumar Chinma
July-September 2020, 15(3):301-303
DOI
:10.4103/jpn.JPN_7_20
Dengue fever is a common viral infection in the tropical areas, especially in India. The clinical manifestations of dengue infection are broad-spectrum, ranging from asymptomatic to life-threatening dengue shock syndrome. Usually, the dengue virus does not cause neurologic manifestations, but recently this has been documented in some cases. However, there is increasing evidence for dengue viral neurotropism, suggesting there may be an element of direct encephalitis in some dengue patients. Here we are reporting a case of dengue encephalitis in a 2-year-old female child from rural India who was presented with a history of fever, altered sensorium, and seizures. Blood test results of dengue immunoglobulin M (IgM) antibodies were positive. Cerebrospinal fluid analysis showed lymphocytic pleocytosis with elevated proteins and normal glucose. Neuroimaging was normal. In addition, other causes of encephalitis were ruled out by appropriate laboratory investigations. Our case highlights that dengue encephalitis may present even in the absence of neuroimaging findings with classical clinical signs. Hence, dengue encephalitis should be considered in the differential diagnosis of fever with altered sensorium and seizures, especially in areas where dengue fever is endemic.
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Radiation-induced supratentorial osteosarcoma following curative treatment of infratentorial ependymoma in a child
Siddharth Vankipuram, Manish Jaiswal, Sunil K Singh, Sumaira Qayoo, Bal K Ojha
July-September 2020, 15(3):304-307
DOI
:10.4103/jpn.JPN_8_20
The development of secondary neoplasms following therapeutic cranial irradiation is rare and quite often lethal. Meningiomas, sarcomas, and high-grade gliomas are the most common tumors that manifest as a result of radiation therapy. We report the case of an 11-year-old child who presented with symptoms of supratentorial space-occupying lesion 7 years after curative surgery and cranial irradiation for a posterior fossa ependymoma. Magnetic resonance imaging of the brain revealed a right-sided temporoparietal dural-based contrast-enhancing lesion with evidence of overlying bone and skin involvement. The histological report of ependymoma from the previous surgery led us to suspect that we were dealing with a recurrence until the histopathology of the second surgery revealed highly malignant osteosarcoma. The child recovered fully and underwent chemotherapy, but ultimately succumbed to the disease. We report this case to highlight the importance of recognizing these neoplasms and to review its management.
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LETTERS TO THE EDITOR
Shunt ascites in a fourth ventricular choroid plexus papilloma in a young child: An uncommon case
Sumit Bansal, Ayusman Satapathy, Suvendu Purkait, Rabi Narayan Sahu
July-September 2020, 15(3):338-340
DOI
:10.4103/jpn.JPN_69_19
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Idiopathic facial nerve palsy in a 6-week-old infant
Kerry M Roberts, Matthew H Roberts, William R Cary, Claire Staley
July-September 2020, 15(3):341-342
DOI
:10.4103/jpn.JPN_103_19
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Meningomyelocele with kyphoscoliosis: Ventilation challenges for anesthesiologist
Sharmishtha Pathak, Saurav Singh, Sanjay Agrawal
July-September 2020, 15(3):343-344
DOI
:10.4103/jpn.JPN_16_20
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Relationship between serum sodium levels and febrile seizure recurrence in children
Prateek K Panda, Indar K Sharawat
July-September 2020, 15(3):345-346
DOI
:10.4103/jpn.JPN_103_20
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Auditory- and visual-evoked responses in children and adolescents with epilepsy
Prateek K Panda, Indar K Sharawat
July-September 2020, 15(3):347-348
DOI
:10.4103/jpn.JPN_118_20
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NEUROIMAGINGS
Toddler with frequent falls and neuroregression: Imaging clues!
Indar K Sharawat, Lesa Dawman, Prateek K Panda
July-September 2020, 15(3):332-333
DOI
:10.4103/jpn.JPN_6_20
Late infantile metachromatic leukodystrophy is an autosomal recessive disorder caused by a deficiency in the enzyme activity of Aryl sulfatase-A. The classical presentation is characterized by gait disturbance, frequent fall, toe walking, impaired swallowing and feeding, seizures, progressive neuroregression, decorticate posture and early death. Here we report a toddler who presented with frequent falls and cognitive regression. Magnetic resonance imaging (MRI) showed a striking leopard skin pattern. Recognition of this pattern on MRI in proper clinical context can serve as a clue to the diagnosis.
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Septo-optic dysplasia with cerebellar hemiagenesis
Arshed H Parry, Abdul H Wani
July-September 2020, 15(3):328-329
DOI
:10.4103/jpn.JPN_93_18
A 1-month-old girl child, who was found to have hydrocephalus on prenatal ultrasound, was postnatally evaluated with magnetic resonance imaging (MRI) of brain, which showed two classical findings of septo-optic dysplasia (SOD), namely optic nerve hypoplasia and absent septum pellucidum. In addition, the patient was found to have cerebellar hemiagenesis.
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ORIGINAL ARTICLES
A treatise on pediatric meningiomas: Single-center retrospective cohort experience and review of literature
Sonal Jain, Dattatraya Muzumdar, Abhidha Shah, Atul Goel
July-September 2020, 15(3):238-244
DOI
:10.4103/jpn.JPN_102_19
Background:
Pediatric meningiomas are infrequently encountered in clinical practice. In comparison to adults, they have a distinct pathophysiology and clinical presentation. They are benign but locally aggressive tumors. Radical excision often culminates in good outcome.
Aim:
The aim of this study was to study the demographic profile, clinico-radiological features, pathophysiology, and surgical outcome of childhood meningiomas.
Materials and Methods:
The case records of patients <18 years of age operated for meningiomas in our institute from 1985 to 2015 were retrieved. The demographic profile, clinical and radiological features, surgical approach, extension of resection, and surgical outcome were recorded and subsequently analyzed.
Results:
Among 37 patients, 20 were males and 17 were females. The mean age was 13 years. Predisposing etiologies such as neurofibromatosis and radiation exposure were identified in 20% of the study population. There were 31 intracranial and 6 spinal meningiomas. Headache associated with vomiting was the most common presenting complaint. Majority were supratentorial tumors. A safe maximal excision was attempted in each case. Recurrence was noted in five patients. Average follow-up was approximately 24 months. Two patients succumbed to the illness. Approximately, 30% of patients were rendered morbid.
Conclusion:
Although rare, pediatric meningiomas are biologically different from their adult counterparts. They have a male predominance, common in intraventricular region and cystic in nature. Radical excision is associated with good prognosis. Although benign, they are aggressive in nature and have a tendency to recur. The response to adjuvant therapy is modest. Further molecular research and genetic studies are necessary to understand the biology of pediatric meningiomas, which will help in the identification of targeted molecular therapy.
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Normative reference value for tactile localization acuity among school-going children: A normative research
Krati Omar, Asir John Samuel
July-September 2020, 15(3):199-203
DOI
:10.4103/jpn.JPN_65_19
Background and Aim:
Tactile localization (TL) is one of the standard assessments to be performed under combined cortical sensory assessment. TL is the ability to locate the point of sensory contact and surprisingly, till date there is no normal reference available for estimating TL. Hence, there is a need to calculate the normative reference of TL among school-going children aged between 8 and 13 years.
Materials and Methods:
A total of 365 healthy school-going children aged between 8 and 13 years were included in this cross-sectional observational study. Children with any neurological condition and other conditions, which prevent them from taking part in the study were excluded. The sample was recruited by stratified random sampling method from the recognized schools in Ambala district, Haryana, India. After the anthropometric measurements, TL acuity was established by point-to-point tactile localization (PPTL) technique. In this technique, the children were asked to relocate the point of contact made by the investigator over identified 15 areas, and after that the distance between the point of contact made by the principal investigator and the relocation point made by the children is measured in centimeters (cm). The mean of three readings were used to estimate TL acuity.
Result:
TL acuity ranges from 0.9 (0.5, 1.5) cm in little finger of palm to 1.5 (1.0, 2.5) cm in middle of posterior arm. TL acuity increases with increasing age. There exist no significant (
P
≥ 0.05) difference in the normative reference value between male and female among the identified 15 areas.
Conclusion:
Normative reference values of TL acuity have been established among school-going children between 8 and 13 years.
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Clinical profile, yield of cartridge-based nucleic acid amplification test (GeneXpert), and outcome in children with tubercular meningitis
Santosh K Soma, Lokesh Lingappa, Subodh Raju, Ramesh Konanki, Amit K Gaur, Ashwini Mohan, Smilu Mohanlal
July-September 2020, 15(3):224-230
DOI
:10.4103/jpn.JPN_92_19
Background:
GeneXpert MTB/RIF is a test for early, rapid diagnosis of tubercular meningitis (TBM).
Aim:
The aim of this article was to study the clinical profile, radiological features, yield of GeneXpert, neurosurgical interventions, and outcome of TBM in children.
Settings and Design:
This was a retrospective and prospective observational study.
Materials and Methods:
Diagnosis was based on the uniform research definition criteria and was staged according to the British Medical Research Council. Mantoux test, analysis of cerebrospinal fluid (CSF), CSF GeneXpert, and radiological investigations were performed.
Results:
Of 36 patients, 50% were aged 1–5 years. Fever (100%), headache (82%), altered sensorium (80%), and vomiting (66%) were common features. Twelve (33%) had contact with active case of tuberculosis; 32 received Bacille Calmette Guarin vaccination. Neurological features included severe deterioration in sensorium (Glasgow Coma Scale < 8) (38%), mild and moderate deficit in sensorium (31%), hemiparesis (41%), and involvement of sixth (25%) and seventh (22%) cranial nerves. Cerebral vision impairment (25%), papilledema (25%), and dystonia (22%) were other findings. CSF GeneXpert was positive in 37% (12/33) patients. Hydrocephalus and basal exudates (75%) were noted on neuro-imaging. Surgical intervention was performed in children with hydrocephalus (13/27). Omayya reservoir was placed in seven children, of which five needed conversion to ventriculoperitoneal (VP) shunt; direct VP shunt was carried out in six (6/13). Good outcome was noted in 78% at discharge. Stage III TBM (
P
= 0.0001), cerebral infarcts (
P
= 0.0006), and motor deficits (
P
= 0.03) were associated with poor outcome. Sequelae included learning difficulties with poor scholastic performance (31.5%).
Conclusion:
GeneXpert has high diagnostic specificity, but negative results do not rule out TBM. CSF GeneXpert provided quick results. Placement of Ommaya reservoir in TBM stage II and III with hydrocephalus was not successful. Hydrocephalus was managed conservatively with success (53%).
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REVIEW ARTICLES
Rare presentations of spontaneous spinal epidural hematomas in children
Smita Ramachandran, Varsha Mishra, Rani Gera
July-September 2020, 15(3):171-174
DOI
:10.4103/jpn.JPN_137_16
Spontaneous spinal epidural hematomas are a rare presentation in children with very few case reports of spontaneous spinal hemorrhage in the pediatric age-group. There has to be a high index of suspicion of spontaneous spinal bleed in patients with acute-onset quadriparesis with no prior history of bleeding or trauma, as early diagnosis and surgical decompression is associated with better neurological outcomes.
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Medulloblastoma under siege: Genetic and molecular dissection concerning recent advances in therapeutic strategies
Zeal D Rawal, Vinal A Upadhyay, Dipak D Patel, Trupti I Trivedi
July-September 2020, 15(3):175-182
DOI
:10.4103/jpn.JPN_166_18
Medulloblastoma (MB) is a devastating illness with unmet therapeutic needs, predominantly cytotoxic and nontargeted approaches. Survivors of MB also suffer from severe treatment-related effects of radiation and cytotoxic chemotherapy keeping mortality rate significant. Recently, four distinct molecular subgroups of MB have been identified (WNT [wingless], SHH [sonic hedgehog], Group 3, and Group 4). Novel subgroup-specific therapies are being explored in the daily treatment of patients as a clinical trial and are an important challenge in the near term for the pediatric neurooncology society. Epigenetic modifiers are also recurrently affected in MB suggesting that epigenetic therapy can be considered in a subset of patients. Moreover, a hint on forefront procedure; tracer of cancer’s genetic information entitled “liquid biopsy” in MB is described. This review examines the recent scientific progress in MB research, with a focus on the genes, pathways that drive tumorigenesis and the advances in conventional and targeted therapy. The identification of subgroup-specific, actionable therapeutic targets has the potential to revolutionize therapy for patients with MB and results in significantly enriched overall survival.
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Holocord tanycytic ependymoma: An interesting case with unusual presentation, challenging histological diagnosis, and single-staged complete tumor resection
Suresh K Sankhla, Ghulam M Khan
July-September 2020, 15(3):183-189
DOI
:10.4103/jpn.JPN_100_19
An interesting case of intramedullary holocord cystic tumor in an 11-year old boy is reported, who presented with unusual clinical manifestations and radiological features. Gross total resection of the tumor was performed in a single-staged surgery. A rare combination of unusual presentation, uncommon histopathological findings, and challenges in the selection of surgical options were discussed with a detailed review of the literature.
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© 2005 - Journal of Pediatric Neurosciences | Published by Wolters Kluwer -
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Online since 10
th
November, 2005