All Stories

  1. Clinical Applications and Implications of Neuroimaging
  2. Reducing body myopathy due to a novel pathogenic variant in the FHL1 gene
  3. Spinal muscular atrophy in India: Patient journey, access to care, treatment barriers, and strategic recommendations: Insights from experts
  4. Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease Masquerading as Herpes Simplex Virus Encephalitis
  5. Effectiveness of augmentative alternative communication therapy in children with cerebral palsy with expressive speech delay
  6. A decade of diagnostic uncertainty: from neurodevelopmental disorders to the discovery of autoimmune encephalitis
  7. Hypomagnesaemia with secondary hypocalcaemia due to a novel TRPM6 mutation
  8. A Diagnostic Conundrum: Myoclonic Jerks, Prematurity, Dysmorphism, and Global Developmental Delay: Authors’ Reply
  9. Familial recurrent febrile encephalopathy: an atypical presentation of acute necrotising encephalopathy type 1 with unusual neuroimaging findings
  10. Unravelling neurodegeneration with cerebral calcifications: Krabbe disease masquerading as Aicardi-Goutieres syndrome
  11. Atypical presentation of mucolipidosis type III
  12. From acute flaccid paralysis (AFP)–Guillain–Barre Syndrome (GBS) and myelitis to progressive encephalopathy : acute disseminated encephalomyelitis (ADEM) atypical presentation of rabies following dog bite
  13. Neuromelanosis masquerading as tubercular bacterial meningitis
  14. Cannabidiol in Drug-Resistant Epilepsy (DRE) in Children: A Retrospective Study
  15. Clinical Profile, Genotypes, and Outcomes in Children with Pyridoxine Dependent Epilepsy (PDE): A Single Center Experience from Southern India
  16. Glutaric aciduria type-1 in a teenager with nutritional vitamin B12deficiency: coexistence of two treatable conditions
  17. Subacute sclerosing panencephalitis (SSPE) masquerading as acute disseminated encephalomyelitis (ADEM)
  18. A Diagnostic Conundrum: Myoclonic Jerks, Prematurity, Dysmorphism, and Global Developmental Delay
  19. Orthotopic Liver Transplantation (OLT) in Arginase Deficiency (AD)
  20. Expanding the Phenotypic Spectrum of DPH2‐Related Disorder
  21. Polio-Like Illness; Acute Flaccid Myelitis, Following Dengue Fever
  22. Congenital generalised lipodystrophy type 2
  23. Clinico-Radiological Mimics and Outcome of Intrauterine TORCH Infection and Aicardi-Goutieres Syndrome; Pseudo-TORCH from a Tertiary Care Centre in South India
  24. Pediatric Onset Multiple Sclerosis (POMS)
  25. Myelin Oligodendrocyte Glycoprotein Antibody Disease – MOGAD
  26. Expanding the Phenotype of NRROS‐Related SENEBAC Syndrome
  27. Comparison of Cystathionine Beta-Synthase (CBS) and Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency in Children with Homocystinuria
  28. Rare Treatable Neurometabolic Condition — Adenosine Kinase Deficiency
  29. L-Serine Biosynthesis Defect: A Treatable Condition Masquerading as TORCH Infection
  30. A Rare Case of Neuronal Ceroid Lipofuscinosis-Type 1 (NCL-1) with Vitamin D-Dependent Rickets-Type 1 (VDDR-1), Complex 1 Mitochondrial Deficiency, and Mixed Variant—Checkerboard and Phylloid Type of Pigmentary Mosaicism
  31. Genetically Confirmed Case of Aspartylglycosaminuria (AGU)
  32. Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy: Authors’ Reply
  33. Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy
  34. Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke Like Episodes: Authors’ Reply
  35. Super-Refractory Status Epilepticus Progressing to Infantile Epileptic Spasms Syndrome Secondary to Very Long Chain Acyl-CoA Dehydrogenase Deficiency
  36. Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke-Like Episodes
  37. Drug Resistant Epilepsy (DRE) Secondary to 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (HADH) in Siblings
  38. Subacute Sclerosing Panencephalitis (SSPE): A Wolf in Sheep’s Clothing—Infantile Presentation Masquerading as Autoimmune Encephalitis
  39. Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
  40. A Rare Treatable Complication of Neuroregression in Glutaric Aciduria Type 1 Management: Vitamin B12 Deficiency
  41. PHACE Syndrome (Posterior Fossa Malformations, Hemangioma, Arterial Anomalies, Coarctation of the Aorta/ Cardiac Defects, and Eye Abnormalities) /Cutaneous Hemangioma-Vascular Complex Syndrome/Pascual-Castroviejo Type II Syndrome
  42. Clinical, imaging and genetic profile of twenty-four patients with pantothenate kinase-associated neurodegeneration (PKAN)- A single centre study from India
  43. A Rare Genetic-Metabolic Cause of Epileptic Spasms: Dihydropyrimidine Dehydrogenase Deficiency
  44. Study on Effectiveness and Tolerability of Adjunctive Perampanel Treatment in Children with Refractory Epilepsy in a Tertiary Care Center
  45. Recurrent Familial Acute Necrotizing Encephalopathy of Childhood (ANEC)
  46. Aicardi-Goutieres Syndrome Type-1 without Intracranial Calcifications
  47. Lathosterolosis - A Rare Treatable Cause for Global Developmental Delay, Cataract, and Liver Dysfunction Masquerading as Galactosemia
  48. The Clinical, Laboratory, Etiological Profile and Outcome of Acute Necrotizing Encephalitis of Childhood (ANEC) in Tertiary Care Centre from Southern India
  49. Ohtahara and West Syndrome due to Pyridox(am)ine-5-Phosphate Oxidase (PNPO) Deficiency with Novel Phenotype and Good Outcome without Pyridoxal-5′-Phosphate
  50. Neuroimaging Features of Biotinidase Deficiency
  51. A Randomized Controlled Trial on the Study of Effectiveness and Safety of Hormonal (ACTH) Treatment Alone versus Hormonal (ACTH) with Levetiracetam for Epileptic Spasms
  52. A Treatable Cause of Global Developmental Delay with Autism Spectrum Disorder Due to Cobalamin Related Remethylation Disorder
  53. Infantile Tremor Syndrome Masquerading as Glutaric Aciduria Type 1
  54. Recurrent Bilateral Lower Motor Neuron Type of Facial Palsy with Hearing Impairment: Hyperphosphatemic Familial Tumoral Calcinosis
  55. Compressive Myelopathy Secondary to TRPV4 Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type
  56. Case Series of Ethylmalonic Encephalopathy from Southern India
  57. Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases
  58. Infantile Tremor Syndrome Presenting as Stroke
  59. Nonepileptic Paroxysmal Events (NEPE) in Children
  60. Homocystinuria Due to MTHFR Variant Presenting As Infantile Tremor Syndrome
  61. A Treatable Cause of Global Developmental Delay with Epileptic Spasm and Delayed Myelination Due to Cobalamin-Related Remethylation Disorder
  62. Etiological Pattern of Movement Disorders in Children
  63. Cohort of Phenotype, Genotype, and Outcome of SCN Developmental and Epileptic Encephalopathies from Southern Part of India
  64. Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren–Larsson syndrome patients
  65. Oromandibular and Laryngeal Dystonia Secondary to Dystonia 6 Due to THAP1 Variant in a Child
  66. Effectiveness and Safety of Brivaracetam in Children
  67. Clinical, Demographic, and Electroencephalographic Profile of Hot-Water Epilepsy in Children
  68. Neurological Manifestations of Congenital Cytomegalovirus Infection at a Tertiary Care Centre from Southern India
  69. Treatable Cause of Pancytopenia, Recurrent Infections and Refractory Epilepsy: Secondary to Hereditary Folate Malabsorption (HFM) Due to Novel Pathogenic Variant
  70. Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India
  71. Alternating Hemiplegia of Childhood: A Series of Genetically Confirmed Four Cases from Southern India with Review of Published Literature
  72. Profile of Indian Children with Childhood Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease: A single Center Experience from Southern India
  73. Horizontal Gaze Palsy with Progressive Kyphoscoliosis
  74. Sotos Syndrome Presenting without Gigantism
  75. Expanding Phenotype of Hypomyelination and Congenital Cataract (HCC) with a Novel Pathogenic Variant
  76. Infantile Alexander Disease Presenting with Hydrocephalus and Epileptic Spasms
  77. Fucosidosis with Pathogenic Variant in FUCA1 Gene
  78. Report of Two Siblings with Andermann Syndrome
  79. Aicardi-Goutieres Syndrome Presenting with Congenital Glaucoma
  80. Recurrent Stroke Like Episodes Secondary to Ornithine Transcarbamylase Deficiency
  81. Waardenburg Syndrome Type I
  82. Kufor-Rakeb Syndrome/ Parkinson Disease Type 9
  83. Etiological Evaluation of Global Developmental Delay
  84. Infantile Tremor Syndrome (ITS) Presenting as Diabetic Ketoacidosis (DKA)
  85. Mitochondrial Membrane Protein Associated Neurodegeneration   (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life
  86. A Novel GCH1 Mutation in An Indian Child with GTP Cyclohydrolase Deficiency
  87. A Case of Juvenile Alexander Disease Presenting as Microcephaly
  88. Corticotrophin-ACTH in Comparison to Prednisolone in West Syndrome – A Randomized Study
  89. Acute flaccid myelitis—Clustering of polio-like illness in the tertiary care centre in Southern India
  90. Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene
  91. Biotin Thiamin Responsive Basal Ganglia Disease in Siblings
  92. Case Series of Infantile Tremor Syndrome in Tertiary Care Paediatric Centre from Southern India
  93. Mucolipidosis Type IV Due to Novel MCOLN1 Mutation
  94. Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene
  95. SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters
  96. A case of Canavan disease with microcephaly
  97. An initiative to classify different neurological disorder in children using multichannel EEG signals
  98. Research letters
  99. Re-emergence of Tetanus: Epidemiological Features, Clinical Profile and Outcome from South India
  100. Correspondence
  101. Alternating hemiplegia of childhood during acute episode of gastroenteritis
  102. Idiopathic intracranial hypertension following measles vaccine
  103. Predictors of non-traumatic coma in a pediatric cohort from a South Indian tertiary care center: Results of a multivariate analysis
  104. Atypical vanishing white matter disease with microcephaly and hepatosplenomegaly provoked after diphtheria pertussis tetanus vaccination
  105. Study of etiological profile of infantile and childhood focal seizures at a tertiary care centre in South India
  106. Kearns-Sayre syndrome presenting as epilepsia partialis continua in a child
  107. Aicardi syndrome with type 2b interhemispheric cyst
  108. Isolated Cerebellitis in Scrub Typhus
  109. Secondary Hemophagocytic Lymphohistiocytosis Associated with Epstein-Barr Virus
  110. Clinical profile, predisposing factors, and associated co-morbidities of children with cerebral palsy in South India
  111. Ohtahara syndrome associated with hemimegalencephaly and intracranial lipoma
  112. Multiple Exostoses Presenting With High Cervical Myelopathy in the First Decade of Life
  113. G402(P)Clinical Profile of Tuberculosis in Pediatric HIV/AIDs
  114. Cerebral Palsy and Early Stimulation
  115. Chapter-01 Introduction
  116. Chapter-02 History
  117. Chapter-04 Epidemiology
  118. Chapter-03 Definition
  119. Chapter-06 Classification
  120. Chapter-08 Clinical Features
  121. Chapter-05 Etiology of Cerebral Palsy
  122. Chapter-09 Diagnosis
  123. Chapter-10 Cerebral Palsy Management
  124. Chapter-11 Probability of Walking
  125. Chapter-13 Prevention of Cerebral Palsy
  126. Chapter-15 Early Stimulation
  127. Chapter-07 Early Clinical Predictors of Cerebral Palsy (CP)
  128. Chapter-12 Natural History of Cerebral Palsy
  129. Chapter-14 Social and Community Level Intervention in Cerebral Palsy and Mental Retardation
  130. Paralytic rabies following cat scratch and intra-dermal anti-rabies vaccination
  131. Inflammatory Granulomas: Most Common Cause of Acute Symptomatic Focal Seizures
  132. Correspondence
  133. Symptomatic West Syndrome Secondary to Glucose Transporter-1(GLUT1) Deficiency with Complete Response to 4:1 Ketogenic Diet
  134. Parry-Romberg syndrome
  135. Incontinentia Pigmenti Presenting as Encephalopathy
  136. Acquired Immunodeficiency Syndrome With Subacute Sclerosing Panencephalitis
  137. Niemann-pick disease type a presenting as unilateral tremors
  138. Comparison of heart rate variability among children with well controlled versus refractory epilepsy: A cross-sectional study
  139. Efficacy of 4:1 (classic) versus 2.5:1 ketogenic ratio diets in refractory epilepsy in young children: A randomized open labeled study
  140. Renal agenesis and external iliac artery stenosis in an infant with moyamoya disease
  141. Thiamine Responsive Megaloblastic Anemia in Three Indian Children
  142. Vanishing White Matter Disease Associated With Ptosis and Myoclonic Seizures
  143. Management of Raised Intracranial Pressure
  144. Acute onset flaccid quadriparesis in pediatric non-Hodgkin lymphoma: Vincristine induced or Guillain-Barré syndrome?