All Stories

  1. Clinico-Radiological Mimics and Outcome of Intrauterine TORCH Infection and Aicardi-Goutieres Syndrome; Pseudo-TORCH from a Tertiary Care Centre in South India
  2. Pediatric Onset Multiple Sclerosis (POMS)
  3. Myelin Oligodendrocyte Glycoprotein Antibody Disease – MOGAD
  4. Expanding the Phenotype of NRROS‐Related SENEBAC Syndrome
  5. Comparison of Cystathionine Beta-Synthase (CBS) and Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency in Children with Homocystinuria
  6. Rare Treatable Neurometabolic Condition — Adenosine Kinase Deficiency
  7. L-Serine Biosynthesis Defect: A Treatable Condition Masquerading as TORCH Infection
  8. 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
  9. Genetically Confirmed Case of Aspartylglycosaminuria (AGU)
  10. Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy: Authors’ Reply
  11. Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy
  12. Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke Like Episodes: Authors’ Reply
  13. Super-Refractory Status Epilepticus Progressing to Infantile Epileptic Spasms Syndrome Secondary to Very Long Chain Acyl-CoA Dehydrogenase Deficiency
  14. Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke-Like Episodes
  15. Drug Resistant Epilepsy (DRE) Secondary to 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (HADH) in Siblings
  16. Subacute Sclerosing Panencephalitis (SSPE): A Wolf in Sheep’s Clothing—Infantile Presentation Masquerading as Autoimmune Encephalitis
  17. Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
  18. A Rare Treatable Complication of Neuroregression in Glutaric Aciduria Type 1 Management: Vitamin B12 Deficiency
  19. 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
  20. Clinical, imaging and genetic profile of twenty-four patients with pantothenate kinase-associated neurodegeneration (PKAN)- A single centre study from India
  21. A Rare Genetic-Metabolic Cause of Epileptic Spasms: Dihydropyrimidine Dehydrogenase Deficiency
  22. Study on Effectiveness and Tolerability of Adjunctive Perampanel Treatment in Children with Refractory Epilepsy in a Tertiary Care Center
  23. Recurrent Familial Acute Necrotizing Encephalopathy of Childhood (ANEC)
  24. Aicardi-Goutieres Syndrome Type-1 without Intracranial Calcifications
  25. Lathosterolosis - A Rare Treatable Cause for Global Developmental Delay, Cataract, and Liver Dysfunction Masquerading as Galactosemia
  26. The Clinical, Laboratory, Etiological Profile and Outcome of Acute Necrotizing Encephalitis of Childhood (ANEC) in Tertiary Care Centre from Southern India
  27. Ohtahara and West Syndrome due to Pyridox(am)ine-5-Phosphate Oxidase (PNPO) Deficiency with Novel Phenotype and Good Outcome without Pyridoxal-5′-Phosphate
  28. Neuroimaging Features of Biotinidase Deficiency
  29. A Randomized Controlled Trial on the Study of Effectiveness and Safety of Hormonal (ACTH) Treatment Alone versus Hormonal (ACTH) with Levetiracetam for Epileptic Spasms
  30. A Treatable Cause of Global Developmental Delay with Autism Spectrum Disorder Due to Cobalamin Related Remethylation Disorder
  31. Infantile Tremor Syndrome Masquerading as Glutaric Aciduria Type 1
  32. Recurrent Bilateral Lower Motor Neuron Type of Facial Palsy with Hearing Impairment: Hyperphosphatemic Familial Tumoral Calcinosis
  33. Compressive Myelopathy Secondary to TRPV4 Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type
  34. Case Series of Ethylmalonic Encephalopathy from Southern India
  35. Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases
  36. Infantile Tremor Syndrome Presenting as Stroke
  37. Nonepileptic Paroxysmal Events (NEPE) in Children
  38. Homocystinuria Due to MTHFR Variant Presenting As Infantile Tremor Syndrome
  39. A Treatable Cause of Global Developmental Delay with Epileptic Spasm and Delayed Myelination Due to Cobalamin-Related Remethylation Disorder
  40. Etiological Pattern of Movement Disorders in Children
  41. Cohort of Phenotype, Genotype, and Outcome of SCN Developmental and Epileptic Encephalopathies from Southern Part of India
  42. Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren–Larsson syndrome patients
  43. Oromandibular and Laryngeal Dystonia Secondary to Dystonia 6 Due to THAP1 Variant in a Child
  44. Effectiveness and Safety of Brivaracetam in Children
  45. Clinical, Demographic, and Electroencephalographic Profile of Hot-Water Epilepsy in Children
  46. Neurological Manifestations of Congenital Cytomegalovirus Infection at a Tertiary Care Centre from Southern India
  47. Treatable Cause of Pancytopenia, Recurrent Infections and Refractory Epilepsy: Secondary to Hereditary Folate Malabsorption (HFM) Due to Novel Pathogenic Variant
  48. Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India
  49. Alternating Hemiplegia of Childhood: A Series of Genetically Confirmed Four Cases from Southern India with Review of Published Literature
  50. Profile of Indian Children with Childhood Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease: A single Center Experience from Southern India
  51. Horizontal Gaze Palsy with Progressive Kyphoscoliosis
  52. Sotos Syndrome Presenting without Gigantism
  53. Expanding Phenotype of Hypomyelination and Congenital Cataract (HCC) with a Novel Pathogenic Variant
  54. Infantile Alexander Disease Presenting with Hydrocephalus and Epileptic Spasms
  55. Fucosidosis with Pathogenic Variant in FUCA1 Gene
  56. Report of Two Siblings with Andermann Syndrome
  57. Aicardi-Goutieres Syndrome Presenting with Congenital Glaucoma
  58. Recurrent Stroke Like Episodes Secondary to Ornithine Transcarbamylase Deficiency
  59. Waardenburg Syndrome Type I
  60. Kufor-Rakeb Syndrome/ Parkinson Disease Type 9
  61. Etiological Evaluation of Global Developmental Delay
  62. Infantile Tremor Syndrome (ITS) Presenting as Diabetic Ketoacidosis (DKA)
  63. Mitochondrial Membrane Protein Associated Neurodegeneration   (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life
  64. A Novel GCH1 Mutation in An Indian Child with GTP Cyclohydrolase Deficiency
  65. A Case of Juvenile Alexander Disease Presenting as Microcephaly
  66. Corticotrophin-ACTH in Comparison to Prednisolone in West Syndrome – A Randomized Study
  67. Acute flaccid myelitis—Clustering of polio-like illness in the tertiary care centre in Southern India
  68. Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene
  69. Biotin Thiamin Responsive Basal Ganglia Disease in Siblings
  70. Case Series of Infantile Tremor Syndrome in Tertiary Care Paediatric Centre from Southern India
  71. Mucolipidosis Type IV Due to Novel MCOLN1 Mutation
  72. Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene
  73. 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
  74. A case of Canavan disease with microcephaly
  75. An initiative to classify different neurological disorder in children using multichannel EEG signals
  76. Research letters
  77. Re-emergence of Tetanus: Epidemiological Features, Clinical Profile and Outcome from South India
  78. Correspondence
  79. Alternating hemiplegia of childhood during acute episode of gastroenteritis
  80. Idiopathic intracranial hypertension following measles vaccine
  81. Predictors of non-traumatic coma in a pediatric cohort from a South Indian tertiary care center: Results of a multivariate analysis
  82. Atypical vanishing white matter disease with microcephaly and hepatosplenomegaly provoked after diphtheria pertussis tetanus vaccination
  83. Study of etiological profile of infantile and childhood focal seizures at a tertiary care centre in South India
  84. Kearns-Sayre syndrome presenting as epilepsia partialis continua in a child
  85. Aicardi syndrome with type 2b interhemispheric cyst
  86. Isolated Cerebellitis in Scrub Typhus
  87. Secondary Hemophagocytic Lymphohistiocytosis Associated with Epstein-Barr Virus
  88. Clinical profile, predisposing factors, and associated co-morbidities of children with cerebral palsy in South India
  89. Ohtahara syndrome associated with hemimegalencephaly and intracranial lipoma
  90. Multiple Exostoses Presenting With High Cervical Myelopathy in the First Decade of Life
  91. G402(P)Clinical Profile of Tuberculosis in Pediatric HIV/AIDs
  92. Cerebral Palsy and Early Stimulation
  93. Chapter-01 Introduction
  94. Chapter-02 History
  95. Chapter-04 Epidemiology
  96. Chapter-03 Definition
  97. Chapter-06 Classification
  98. Chapter-08 Clinical Features
  99. Chapter-05 Etiology of Cerebral Palsy
  100. Chapter-09 Diagnosis
  101. Chapter-10 Cerebral Palsy Management
  102. Chapter-11 Probability of Walking
  103. Chapter-13 Prevention of Cerebral Palsy
  104. Chapter-15 Early Stimulation
  105. Chapter-07 Early Clinical Predictors of Cerebral Palsy (CP)
  106. Chapter-12 Natural History of Cerebral Palsy
  107. Chapter-14 Social and Community Level Intervention in Cerebral Palsy and Mental Retardation
  108. Paralytic rabies following cat scratch and intra-dermal anti-rabies vaccination
  109. Inflammatory Granulomas: Most Common Cause of Acute Symptomatic Focal Seizures
  110. Correspondence
  111. Symptomatic West Syndrome Secondary to Glucose Transporter-1(GLUT1) Deficiency with Complete Response to 4:1 Ketogenic Diet
  112. Parry-Romberg syndrome
  113. Incontinentia Pigmenti Presenting as Encephalopathy
  114. Acquired Immunodeficiency Syndrome With Subacute Sclerosing Panencephalitis
  115. Niemann-pick disease type a presenting as unilateral tremors
  116. Comparison of heart rate variability among children with well controlled versus refractory epilepsy: A cross-sectional study
  117. Efficacy of 4:1 (classic) versus 2.5:1 ketogenic ratio diets in refractory epilepsy in young children: A randomized open labeled study
  118. Renal agenesis and external iliac artery stenosis in an infant with moyamoya disease
  119. Thiamine Responsive Megaloblastic Anemia in Three Indian Children
  120. Vanishing White Matter Disease Associated With Ptosis and Myoclonic Seizures
  121. Management of Raised Intracranial Pressure
  122. Acute onset flaccid quadriparesis in pediatric non-Hodgkin lymphoma: Vincristine induced or Guillain-Barré syndrome?