All Stories

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