Puneet Jain

Puneet Jain
SickKids · Pediatric Neurology

Dr

About

108
Publications
24,307
Reads
How we measure 'reads'
A 'read' is counted each time someone views a publication summary (such as the title, abstract, and list of authors), clicks on a figure, or views or downloads the full-text. Learn more
947
Citations

Publications

Publications (108)
Article
Aim: We performed a systematic review and network meta-analysis (NMA) to obtain comparative effectiveness estimates and rankings of non-surgical interventions used to treat infantile spasms. Method: All randomized controlled trials (RCTs) including children 2 months to 3 years of age with infantile spasms (with hypsarrhythmia or hypsarrhythmia v...
Article
Objective We synthesized evidence for effectiveness of vagus nerve stimulation (VNS) as adjuvant therapy in pediatric drug-resistant epilepsy (DRE) by obtaining pooled estimates for seizure outcomes and analyzing their determinants. Methods MEDLINE, EMBASE, and Cochrane databases were searched up to July 2019, for original research on VNS in pedia...
Article
Full-text available
Routine electroencephalogram (EEG) has many limitations, especially the inability to capture reported habitual events in question. A prolonged EEG with synchronized video (video-EEG) overcomes some of these limitations by improving the sensitivity, specificity and the diagnostic yield by attempting to record the habitual events when they are freque...
Article
Absence seizures are commonly encountered in clinical practice. The diagnosis is usually straightforward in majority of cases. However, it may be challenging in patients with some atypical clinical or EEG features or less common epilepsy syndromes. This narrative review describes the clinical and EEG features, treatment and prognosis of the usual a...
Article
Full-text available
Objective: We sought to determine the molecular etiology of disease in four individuals from two unrelated families who presented with proximal muscle weakness and clinical features suggestive of mitochondrial disease. Background: Next-generation sequencing has provided significant advantages in the diagnosis of disorders disrupting energy metaboli...
Article
Objective: To assess clinical profile and short term treatment outcomes of pediatric status epilepticus (SE) at a tertiary-care center in northern India. Methods: Prospective cohort study enrolled children aged 1 month to 18 years presenting with SE to the emergency department. Enrolled children (109) were treated as per hospital protocols. Clin...
Article
Objectives: To assess the neurodevelopmental outcome of West syndrome (WS) in Indian children, who differ in their clinical profile from the western population. Materials and methods: This cross-sectional study enrolled children aged 2--5 years with prior diagnosis of WS between November 2013 and March 2015. They were assessed for epilepsy outco...
Article
Injection vincristine is an important component of therapy for acute lymphoblastic leukemia (ALL). An important adverse effect of vincristine is neurotoxicity. The incidence of this adverse effect is well studied. The present was undertaken to determine the incidence of vincristine-induced neurotoxicity in children with ALL after the induction of r...
Article
Purpose: In adults, the Status Epilepticus Severity Score (STESS), a clinical score, has been shown to be a good predictor of outcome and treatment response. We devised a pediatric modification of this score: the Status Epilepticus in Pediatric patients Severity Score (STEPSS) and evaluated it in children with status epilepticus. Methods: In thi...
Article
Background: Guillain-Barre syndrome (GBS) is a common acquired polyneuropathy in children. Aim: To describe the clinical and serial electrophysiological features along with short-term outcomes of children with GBS in north India. Setting and design: This was a prospective study conducted at a tertiary care pediatric hospital in north India. M...
Article
Congenital disorders of glycosylation (CDG) are multisystemic inherited metabolic disorders with marked phenotypic variability. The most frequent described type is PMM2-CDG (earlier known as CDG Type Ia) which presents either with pure neurologic features or with combined neurologic and systemic features. The classical presentation is characterized...
Article
Objective: To determine the molecular etiology of disease in 4 individuals from 2 unrelated families who presented with proximal muscle weakness and features suggestive of mitochondrial disease. Methods: Clinical information and neuroimaging were reviewed. Genome sequencing was performed on affected individuals and biological parents. Results:...
Article
Hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disorder (OMIM# 602014) characterized by severe hypomagnesemia and moderate-to-severe hypocalcemia. This disorder typically presents within the first few weeks of life with neurological symptoms. Also known as Paunier's disease, it results from mutations in the gene enco...
Conference Paper
The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India
Article
There have been few case reports showing association of vitamin B12 deficiency with infantile spasms. We planned this study to see if there was an association of serum vitamin B12 deficiency in children with development of infantile spasms. Cases included children with infantile spasms of ages 6 months to 3 years. The controls were children in the...
Article
Background: West syndrome is a catastrophic epilepsy syndrome characterized by infantile spasms, hypsarrhythmia, and developmental arrest or regression. Aim: The aim of this study was to explore the role of pyridoxine in the management of infantile spasms. Setting and design: This was a pilot, randomized, open-label trial conducted at a tertia...
Article
Full-text available
Objectives To study the magnitude and pattern of injuries in children with epilepsy. Methods This prospective cohort study enrolled children with epilepsy (CWE) aged 2-16 years on treatment with anti-epileptics for a minimum duration of one-month and compared them with their own siblings (controls). A semi-structured questionnaire was used to enqui...
Article
Background: The modified Atkins diet (MAD) has been used predominantly in older children, adolescents, and adults. There is a paucity of data on the use of the MAD in refractory epilepsy in young children. Objectives: This study was planned to evaluate the efficacy and tolerability of the MAD in refractory epilepsy in young children. Methods:...
Article
Purpose: This study was planned to develop and evaluate a simple, easy-to-understand variation of the modified Atkins diet, for use by parents with low levels of literacy in children with refractory epilepsy. Methods: This study was conducted in two phases. In the first phase, a simplified version of the modified Atkins diet was developed. In th...
Article
Hereditary myoclonus-dystonia (DYT 11) is caused by the epsilon-sarcoglycan (SGCE) mutation. The clinical details and investigations of cases diagnosed with myoclonus-dystonia were reviewed. We describe 5 patients (3 families) with myoclonus-dystonia diagnosed at our center. Majority of the patients had the classical phenotype with few atypical fea...
Article
Objective: The objective of this study is to retrospectively collect and then describe the clinico-radiographical profile of confirmed cases of leukodystrophy who presented over a 5-year period to a tertiary care teaching hospital in North India. Materials and methods: The case records of 80 confirmed cases of leukodystrophy were reviewed and th...
Article
Objectives: To explore the existing evidence for anti-convulsant drugs and their routes of administration in treating acute seizures in children and adults when intravenous access is not available. Methods: All major databases including Medline via Ovid, PubMed, Cochrane CENTRAL, Embase, and Google Scholar were searched till May 2015. Randomized...
Article
Background: Neuronal ceroid lipofuscinoses (NCL) are heterogeneous neurodegenerative disorders. A better understanding of genotype-phenotype-histology correlation is expected to improve patient care and enhance understanding for phenotypic variability. This meta-analysis studies the correlation of NCL genotypes with clinical phenotypes, ages of ons...
Article
Full-text available
Objectives: Triclofos may be a better sedative in view of better palatability and less gastric irritation as compared to chloral hydrate. This study aimed to assess the efficacy of triclofos (a commonly used sedative in India) as a sedative for sleep electroencephalogram (EEG) study in children. Methods: This prospective observational study was ca...
Article
Objective: This is a retrospective chart review of consecutive children with acquired demyelinating disorders presenting to a north Indian tertiary care hospital over 4 years. The aim of this review is to describe all the patients (with single event as well as those with recurrences) with detailed description of those who recurred. Materials and...
Article
Full-text available
Objectives: The prevalence of obesity is rapidly increasing among Indian children, who, in general, are more prone to develop metabolic complications at an early age. Valproate and phenytoin are commonly used antiepileptic drugs in children. This study aimed to assess the parameters of the metabolic syndrome in Indian children with epilepsy on val...
Article
Basal ganglia stroke is known following trivial head trauma. Recently a distinct clinic-radiological entity termed 'mineralizing angiopathy' was described. We report an infant who developed basal ganglia stroke following trivial fall. His clinic-radiological features are described.
Article
SLC30A10 mutations cause an autosomal recessive disorder, characterized by hypermanganesaemia, polycythemia, early-onset dystonia, paraparesis, or late-onset parkinsonism, and chronic liver disease. This is the first identified inborn error of Mn metabolism in humans, reported in 10 families thus far. Methods for this study consisted of clinical ex...
Article
Background: Valproate is a commonly used anticonvulsant drug. Uridine 5΄-diphospho (UDP)-glucuronosyltransferase (UGT) contributes to around 50% of valproate metabolism and its polymorphisms may be important for explaining the considerable variation in valproate levels in patients with epilepsy. Aim: This study was aimed to analyze the genetic poly...
Article
Full-text available
This study describes the clinical characteristics, treatment, and outcome of children with West syndrome in a tertiary care hospital in north India. Overall, 310 case records diagnosed from January 2009 to June 2012 were reviewed. The median age of onset of spasms was 5 months (interquartile range = 2.5-7 months). The predominant underlying etiolog...
Article
To the Editor: Acrodermatitis enteropathica (AE) is a rare disorder of zinc metabolism [1]. Deficiency of essential amino acids and fatty acids may also induce acrodermatitis enteropathica like lesions. The proposed name for such lesions is acrodermatitis acidemia/acrodermatitis dysmetabolica [2]. We report two rare cases of organic-acidemias who d...
Article
Family 1Five-years-old monozygotic twin-sisters presented with delayed milestones. They had no seizures, vision or hearing deficits. Examination revealed itchy icthyosis (Fig. 1), abnormal dentition, lower limb spasticity, brisk muscle-stretch-reflexes and mild optic atrophy. Magnetic-Resonance-Imaging of the brain and MR-spectroscopy are shown in...
Article
Full-text available
Status epilepticus has a wide etiological spectrum, and significant morbidity and mortality. Management using a pre-determined uniform protocol leads to better outcomes. Multiple protocols for management of childhood status epilepticus are available, without much consensus. PROCESS: A 'Multi-disciplinary Consensus Development Workshop on Management...
Article
Objectives This study aimed to test the hypothesis that high-dose prednisolone (4 mg/kg/day) may be more efficacious than usual-dose (2 mg/kg/day) prednisolone for spasm resolution at 14-days in children with infantile spasms. Methods This was a randomized, open-label-trial conducted at a tertiary-level-hospital from February-2012 to March-2013. C...
Article
Neurocysticercosis, parasitic infestation of the central nervous system by the Taenia solium larvae, is a major public health problem, primarily in the developing countries. Seizures are the primary clinical manifestation which could be acute (secondary to active lesions) or remote symptomatic (due to calcified lesions). Cysticidal therapy is the s...
Article
Refractory epilepsy, estimated to affect 10-20 % children with epilepsy, can have profound effect on the education, social and cognitive functioning and recreational activities of the child. The definitions are still evolving. A detailed clinical evaluation may reveal an accurate syndromic and etiological diagnosis. The recent advances in neuroimag...
Article
The classical phenotype of Miller Fisher syndrome is characterized by ophthalmoplegia, ataxia and areflexia. However, less extensive forms have been described. The authors report a 14-y-old boy with positive anti-GQ1b antibodies with unusual clinical findings. He presented with headache, double vision and vomiting for 7 d. Examination revealed comp...
Article
The ketogenic diet is a high-fat, low-carbohydrate, and restricted protein diet that is useful in patients with refractory epilepsy. The efficacy of the ketogenic diet is better than most of the new antiepileptic drugs. Other modifications of the diet are also beneficial, such as the modified Atkins diet and the low glycemic index treatment. There...
Article
Full-text available
We report the characteristic EEG findings of an infant with lissencephaly who presented with infantile spasms.
Article
Full-text available
The rare association of pontocerebellar hypoplasia with anterior horn cell involvement has been classified as pontocerebellar hypoplasia type 1. Its classic phenotype is usually severe. However, the pontocerebellar hypoplasia type 1 may have wider variability in clinical and radiological features. There may be a genetic heterogeneity as well. We de...
Article
Full-text available
Inherited metabolic disorders are a rare cause of epilepsy in children. We describe a case of Glutaric aciduria type 1 presenting with West syndrome and a case of intermittent Maple syrup urine disease presenting with epileptic encephalopathy. Early diagnosis and institution of appropriate therapy may be life saving and may improve the long term ne...
Article
Various micronutrients are essential for optimal functioning of the peripheral nervous system. Serum vitamin E, vitamin B12, and folic acid were estimated in childhood acute lymphoblastic leukemia survivors aged between 5 and 18 years in first continuous remission within 3 years of completion of vincristine-based chemotherapy with and without elect...
Article
We describe the case of a 4½-year-old girl with prolonged febrile status followed by abnormal behavior and loss of speech. Interesting findings on diffusion-restricted imaging were noted. The clinicoradiologic possibilities are discussed.
Article
A 7-year-old boy presented with episodic blindness for the last 2 months with occipital paroxysms and fixation-off sensitivity on electroencephalography (EEG). The clinico-EEG features were suggestive of idiopathic childhood occipital epilepsy of Gastaut. The interesting phenomenon of fixation-off sensitivity is discussed.
Conference Paper
Full-text available
Introduction: Giant axonal neuropathy (GAN) is a severe autosomal recessive childhood disorder affecting both the peripheral and the central nervous system. The classical MRI brain findings include diffuse cerebral and cerebellar atrophy with white matter changes. We report the clinical, pathological and the unusual neuro-imaging findings in two fa...
Article
There is scanty data regarding the efficacy and tolerability of the modified Atkins diet in children with Lennox-Gastaut syndrome. This study was a retrospective review of children with Lennox-Gastaut syndrome treated with the modified Atkins diet from May 2009 and March 2011. The diet was initiated in those children who persisted to have daily sei...
Conference Paper
Full-text available
Introduction: West syndrome is a common age-related epileptic encephalopathy with onset usually in the first year of life. This study aimed to evaluate the clinico-etiological Clinical profile of childproefnilewaintdhslhaotert toenrmsesteiszpuraesomutsc-oAmerespinocrhtioldfre2n4with epileptic spasms wi2th01o4nset after cases 12 months of age. S Ane...
Article
Full-text available
Context: Menkes disease is an X-linked multisystem disorder characterized by early onset of cerebral and cerebellar neurodegeneration, fair skin, hypopigmented sparse hair and connective tissue abnormalities. Aims: We aimed to evaluate the clinical, electrophysiological and radiological features of children with Menkes disease seen at our instit...
Article
Absence seizures associated with myoclonic phenomena have been associated with 4 seizure types. Recently, a new seizure type of neck myoclonia with absences was described. We present a case of 9-year-old girl who presented with abnormal head shaking and vacant stare for the past 5 months with an ictal electroencephalograph (EEG) record showing 3-Hz...
Article
An 11-y-old girl presented with seizures for the last 12 mo. She had no adverse perinatal events with normal development history. She had six episodes of generalized-tonic-clonic seizures in the last 12 mo. There were no other seizure types. She had received gradually increasing doses of valproate with partial response. She was a student of class f...
Article
Full-text available
The modified Atkins diet is a less restrictive variation of the ketogenic diet. This diet is started on an outpatient basis without a fast, allows unlimited protein and fat, and does not restrict calories or fluids. Recent studies have shown good efficacy and tolerability of this diet in refractory epilepsy. In this review, we discuss the use of th...
Article
Hepatitis C virus is one of the main cause of chronic hepatitis in developing countries. The current study was done to evaluate the efficacy of the third generation ELISA compared to nested RT- PCR for establishing the diagnosis of hepatitis C virus (HCV) in patients on hemodialysis. This descriptive, cross-sectional study was carried out on 237 He...
Article
Full-text available
A previously normal 12-year-old boy presented with 2 episodes of generalized tonic-clonic seizures in the past month. The parents also noticed brief episodes of twitching of the mouth for the last 2 years, which increased in frequency after treatment with oxcarbamazepine. Examination and neuroimaging were normal. The seizure semiology (video 1 on t...
Article
Full-text available
Context: Acute viral hepatitis (AVH) is a major public health problem and is an important cause of morbidity and mortality. Aim: The aim of the present study is to determine the prevalence of hepatitis A virus (HAV), hepatitis B virus (HBV), hepatitis C virus (HCV), hepatitis D virus (HDV) and hepatitis E virus (HEV) as causes of AVH in a tertia...
Article
The prevalence and the burden of vincristine-induced neuropathy have been poorly documented in childhood acute lymphoblastic leukemia survivors. This cross-sectional study was carried out at a tertiary care center in northern India from October 2011 to June 2012. Eighty consecutive acute lymphoblastic leukemia survivors aged 5 to 18 years, within 3...
Article
A 4-year-old boy presented with progressive neurodegeneration, mild coarsening of facies and spasticity. The classical neuroimaging guided the subsequent investigation of enzyme assay which confirmed the diagnosis of fucosidosis.
Article
Full-text available
An 11-year-old boy presented with gradual cognitive decline, gait disturbances, decrease in vision and intermittent headache for 2 months. Examination revealed papilledema, altered sensorium, Parinaud syndrome and spasticity. Magnetic resonance imaging of the brain is shown in figure 1 . What is the probable diagnosis?