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Byline: Aakash. Mahesan, Gautam. Kamila, Richa. Tiwari, Sumanta. Das, Mehar. Sharma, Prashant. Jauhari, Biswaroop. Chakrabarty, Sheffali. Gulati Sir, Congenital myasthenia syndromes (CMS) are a group of seronegative myasthenia syndromes caused [...]

Byline: Aakash. Mahesan, Gautam. Kamila, Puneet. Choudhary, Prashant. Jauhari, Biswaroop. Chakrabarty, Atin. Kumar, Sheffali. Gulati Sir, Allan-Herndon-Dudley syndrome (AHDS) or MCT8-specific thyroid hormone cell membrane transporter deficiency is an X-linked [...]

Byline: Aakash. Mahesan, Gautam. Kamila, Prabhav. Puri, Vinod. Kumar, Atin. Kumar, Prashant. Jauhari, Biswaroop. Chakrabarty, Sheffali. Gulati A 4-month-old baby girl presented with clusters of jerky movements of limbs and [...]

Byline: Aakash. Mahesan, Gautam. Kamila, Prashant. Jauhari, Biswaroop. Chakrabarty, Atin. Kumar, Sheffali. Gulati A 30-month-old boy, born out of non-consanguineous marriage without any adverse perinatal events, presented with global developmental [...]

Byline: Aakash. Mahesan, Gautam. Kamila, Puneet. Choudhary, Prashant. Jauhari, Biswaroop. Chakrabarty, Atin. Kumar, Sheffali. Gulati A 7-year-old girl who was born out of nonconsanguineous marriage presented with progressive vision loss, [...]

Byline: Sachendra. Badal, Mehar. Sharma, Biswaroop. Chakrabarty, Prashant. Jauhari, Sheffali. Gulati A 9-year-old boy presented with progressive weakness of all four limbs starting proximally and frequent falls while walking from [...]

Byline: Shruthi. N M, Sheffali. Gulati Craniosynostosis is premature fusion of sutures of the cranium, resulting in an abnormal skull shape and restriction of brain growth. It may affect either [...]

Byline: Juhi. Gupta, Sachendra. Badal, Vaishakh. Anand, Prashant. Jauhari, Biswaroop. Chakrabarty, Sheffali. Gulati Hyperekplexia, an underdiagnosed motor paroxysm of infancy, mimics epilepsy closely. It is hallmarked by episodic and excessive [...]

Byline: Vaishakh. Anand, Sachendra. Badal, Sheffali. Gulati Sir, Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome and can affect multiple organ systems. The estimated prevalence of TSC is [...]

Byline: Harsh. Patel, Biswaroop. Chakrabarty, Rachna. Dubey, Atin. Kumar, Sheffali. Gulati A 13-month-old boy presented with delay in attainment of milestones. On examination, he had café au lait spots and [...]

Byline: Ranjith. Manokaran, Prashant. Jauhari, Biswaroop. Chakrabarty, Neerja. Gupta, Atin. Kumar, Sheffali. Gulati Lesch-Nyhan syndrome is a rare neurometabolic condition characterized by progressive choreoathetosis, intellectual disability, and peculiar manifestations like [...]

Byline: Priyanka. Madaan, Prashant. Jauhari, Biswaroop. Chakrabarty, Atin. Kumar, Sarthak. Tripathy, Nishikant. Damle, Sheffali. Gulati A 9-year-old boy presented with bilateral lower-motor-neuron facial-palsy, progressive hearing-loss, and radiating-pains in legs for [...]

Byline: Lokesh. Saini, Biswaroop. Chakrabarty, Atin. Kumar, Sheffali. Gulati An 8-month-old girl presented with fever, restricted left eye movements and increasing proptosis for 8 days. On examination she had left [...]

Byline: Rupa. Joshi, Manjari. Tripathi, Pooja. Gupta, Sheffali. Gulati, Yogendra. Gupta OBJECTIVES: The present study aimed to determine the pattern of prescription of antiepileptic drugs (AEDs) in a cohort of [...]

Byline: Sheffali. Gulati, Juhi. Gupta, Priyanka. Madaan Sir, The escalating pandemic of coronavirus disease 2019 (COVID-19) has posed a multitude of challenges for pediatric neurologists. These range from managing children [...]

Byline: Sheffali. Gulati, Lokesh. Saini, Jaya. Kaushik, Biswaroop. Chakrabarty, N. Arora, Ravindra. Pandey, Rajesh. Sagar, Savita. Sapra, Shobha. Sharma, Vinod. Paul Background: The current study was planned at a tertiary [...]

Byline: Priyanka. Madaan, Prashant. Jauhari, Shruthi. Michael, Aditi. Sinha, Biswaroop. Chakrabarty, Sheffali. Gulati Sir, Pediatric arterial ischemic stroke (AIS) is relatively uncommon and often under-recognized. It comprises 5%-10% of all [...]

Byline: Rajni. Farmania, Prashant. Jauhari, Biswaroop. Chakrabarty, Sheffali. Gulati Sir, Chronic meningitis with hypoglycorrhachia is generally suggestive of tuberculosis, fungal infections, mumps, protozoal infection, and malignancy; Lyme's meningitis is a [...]

Byline: Priyanka. Madaan, Prashant. Jauhari, N. Shruthi, Biswaroop. Chakrabarty, Sheffali. GulatiSir,Guillain-Barre syndrome (GBS) is an acute immune-mediated polyradiculoneuropathy which may be demyelinating (acute inflammatory demyelinating polyradiculoneuropathy) or axonal (acute motor [...]

Acute-onset ophthalmoplegia is a perplexing diagnosis in a young child. When the full-blown picture of ophthalmoplegia, ataxia, and areflexia is evident, the diagnosis of Miller-Fisher syndrome (MFS), a variant of Guillain-Barre syndrome (GBS), is almost certain. However, the same is not true for isolated external ophthalmoplegia as it is etiologically heterogeneous. Only anecdotal case reports of childhood-onset acute ophthalmoplegia exist in the literature. Adult series suggest that acute onset external ophthalmoplegia is often immune-mediated and is secondary to anti-GQ1b antibodies. We present a 30-month-old boy with acute-onset bilateral external ophthalmoplegia with highly elevated serum anti-GQ1b antibodies. The child had a rapid and complete recovery with intravenous immunoglobulin. A review of all published cases of childhood anti-GQ1b antibody syndrome was performed. The case highlights that anti-GQ1b antibody syndrome should be considered even in young children with acute-onset external ophthalmoplegia. The disease has a favorable prognosis. The majority improve on conservative management. Treatment with steroids or IVIG may be considered in some after weighing the risks and benefits. [ABSTRACT FROM AUTHOR]

Background: Trace elements have been implicated in pathogenesis of epilepsy. Studies till date have shown altered levels of serum trace elements in children with epilepsy.Objective: The objective of the current was to estimate serum levels of trace elements in children with well-controlled and drug refractory epilepsy and compare it with controls.Methodology: In a tertiary care teaching hospital of North India, serum selenium, copper, zinc, and iron were estimated in well-controlled and drug refractory epileptic children aged 2-12 years and compared with age and gender matched controls.Results: A total of 106 children with epilepsy (55 drug refractory and 51 well controlled) and 52 age and gender matched controls were included in the study. Serum selenium and copper were significantly decreased in cases compared to controls. After classifying epilepsy into well-controlled and drug refractory cases, only in the latter the significant difference for serum selenium and copper levels remained compared to controls. Additionally, in the drug refractory cases, serum iron levels were significantly reduced compared to controls.Conclusions: Serum trace elements are altered in children with epilepsy (more so in the drug refractory group) compared to controls. Monitoring of serum trace elements in children with epilepsy should be considered. Up to one-third of epilepsy is drug refractory of which only another third are amenable to surgery. It is worth investigating the therapeutic potential of altered micronutrient status in these patients. [ABSTRACT FROM AUTHOR]

Craniosynostosis is premature fusion of sutures of the cranium, resulting in an abnormal skull shape and restriction of brain growth. It may affect either a single suture or multiple sutures. In most cases, craniosynostosis is secondary to an underlying abnormality of the growing brain; however, syndromic craniosynostosis is not uncommon. It might lead to several complications such as raised intracranial pressure, neurological deficits, and neurodevelopmental disabilities. Pediatric neurologists do play a significant role in early identification and treatment, and thereby ensure a better clinical and neurodevelopmental outcome in such children. [ABSTRACT FROM AUTHOR]

Background Neurodevelopmental disorders (NDDs) compromise the development and attainment of full social and economic potential at individual, family, community, and country levels. Paucity of data on NDDs slows down policy and programmatic action in most developing countries despite perceived high burden. Methods and findings We assessed 3,964 children (with almost equal number of boys and girls distributed in 2- Conclusions The study identifies NDDs in children aged 2-9 years as a significant public health burden for India. HI was higher than and ASD prevalence comparable to the published global literature. Most risk factors of NDDs were modifiable and amenable to public health interventions., Author(s): Narendra K. Arora 1,*, M. K. C. Nair 2, Sheffali Gulati 3, Vaishali Deshmukh 1, Archisman Mohapatra 1, Devendra Mishra 4, Vikram Patel 5,6, Ravindra M. Pandey 7, Bhagabati [...]

Byline: Lokesh. Saini, Prashant. Jauhari, Biswaroop. Chakrabarty, Atin. Kumar, Sheffali. Gulati An ever-expanding list of neurological disorders with striatal lesions exists. The spectrum ranges from acquired infective etiologies to neurometabolic [...]

X-linked myopathy with excessive autophagy (XMEA) is a rare, recently characterized type of autophagic vacuolar myopathy caused by mutations in the VMA21 gene. It is characterized by slowly progressive weakness restricted to proximal limb muscles and generally has a favorable outcome. The characteristic histological and ultrastructural features distinguish this entity from other mimics, notably Danon disease. XMEA is an under recognized disease and should be considered in the differentials of slowly progressive myopathy in children. Awareness of this rare entity is also important for the pathologists in order to distinguish it from other causes of vacuolar myopathy in view of its favourable prognosis. We report the first genetically confirmed case of XMEA from India in an 8-year-old boy which was diagnosed based on the characteristic light microscopic and ultrastructural findings on muscle biopsy and subsequently confirmed by mutation analysis. The differential diagnostic considerations are also discussed. [ABSTRACT FROM AUTHOR]