All Stories

  1. Hypoglycorrhachia: From Glucose Transporter Type 1 Deficiency Syndrome (GLUT1DS) to Pyridox(am)ine-5′-Phosphate Oxidase (PNPO) Deficiency: A Fifteen-Year Diagnostic Journey Redefined by Genomic Insights
  2. Megalencephalic Leukoencephalopathy Type 2B
  3. Acute leukoencephalopathy with restricted diffusion (ALERD) in a toddler: A diagnostic challenge unmasking hereditary sensory autonomic neuropathy type 4
  4. Paediatric myelin oligodendrocyte glycoprotein antibody-associated disease with NMDA receptor encephalitis: overlap syndrome and challenges in the antibody testing
  5. Biotinidase deficiency deterioration in the second decade, presenting as treatable cerebellar ataxia and encephalopathy masquerading as demyelination
  6. Clinical Applications and Implications of Neuroimaging
  7. Reducing body myopathy due to a novel pathogenic variant in the FHL1 gene
  8. Spinal muscular atrophy in India: Patient journey, access to care, treatment barriers, and strategic recommendations: Insights from experts
  9. Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease Masquerading as Herpes Simplex Virus Encephalitis
  10. Effectiveness of augmentative alternative communication therapy in children with cerebral palsy with expressive speech delay
  11. A decade of diagnostic uncertainty: from neurodevelopmental disorders to the discovery of autoimmune encephalitis
  12. Hypomagnesaemia with secondary hypocalcaemia due to a novel TRPM6 mutation
  13. A Diagnostic Conundrum: Myoclonic Jerks, Prematurity, Dysmorphism, and Global Developmental Delay: Authors’ Reply
  14. Familial recurrent febrile encephalopathy: an atypical presentation of acute necrotising encephalopathy type 1 with unusual neuroimaging findings
  15. Unravelling neurodegeneration with cerebral calcifications: Krabbe disease masquerading as Aicardi-Goutieres syndrome
  16. Atypical presentation of mucolipidosis type III
  17. 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
  18. Neuromelanosis masquerading as tubercular bacterial meningitis
  19. Cannabidiol in Drug-Resistant Epilepsy (DRE) in Children: A Retrospective Study
  20. Clinical Profile, Genotypes, and Outcomes in Children with Pyridoxine Dependent Epilepsy (PDE): A Single Center Experience from Southern India
  21. Glutaric aciduria type-1 in a teenager with nutritional vitamin B12deficiency: coexistence of two treatable conditions
  22. Subacute sclerosing panencephalitis (SSPE) masquerading as acute disseminated encephalomyelitis (ADEM)
  23. A Diagnostic Conundrum: Myoclonic Jerks, Prematurity, Dysmorphism, and Global Developmental Delay
  24. Orthotopic Liver Transplantation (OLT) in Arginase Deficiency (AD)
  25. Expanding the Phenotypic Spectrum of DPH2‐Related Disorder
  26. Polio-Like Illness; Acute Flaccid Myelitis, Following Dengue Fever
  27. Congenital generalised lipodystrophy type 2
  28. Clinico-Radiological Mimics and Outcome of Intrauterine TORCH Infection and Aicardi-Goutieres Syndrome; Pseudo-TORCH from a Tertiary Care Centre in South India
  29. Pediatric Onset Multiple Sclerosis (POMS)
  30. Myelin Oligodendrocyte Glycoprotein Antibody Disease – MOGAD
  31. Expanding the Phenotype of NRROS‐Related SENEBAC Syndrome
  32. Comparison of Cystathionine Beta-Synthase (CBS) and Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency in Children with Homocystinuria
  33. Rare Treatable Neurometabolic Condition — Adenosine Kinase Deficiency
  34. L-Serine Biosynthesis Defect: A Treatable Condition Masquerading as TORCH Infection
  35. 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
  36. Genetically Confirmed Case of Aspartylglycosaminuria (AGU)
  37. Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy: Authors’ Reply
  38. Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy
  39. Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke Like Episodes: Authors’ Reply
  40. Super-Refractory Status Epilepticus Progressing to Infantile Epileptic Spasms Syndrome Secondary to Very Long Chain Acyl-CoA Dehydrogenase Deficiency
  41. Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke-Like Episodes
  42. Drug Resistant Epilepsy (DRE) Secondary to 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (HADH) in Siblings
  43. Subacute Sclerosing Panencephalitis (SSPE): A Wolf in Sheep’s Clothing—Infantile Presentation Masquerading as Autoimmune Encephalitis
  44. Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
  45. A Rare Treatable Complication of Neuroregression in Glutaric Aciduria Type 1 Management: Vitamin B12 Deficiency
  46. 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
  47. Clinical, imaging and genetic profile of twenty-four patients with pantothenate kinase-associated neurodegeneration (PKAN)- A single centre study from India
  48. A Rare Genetic-Metabolic Cause of Epileptic Spasms: Dihydropyrimidine Dehydrogenase Deficiency
  49. Study on Effectiveness and Tolerability of Adjunctive Perampanel Treatment in Children with Refractory Epilepsy in a Tertiary Care Center
  50. Recurrent Familial Acute Necrotizing Encephalopathy of Childhood (ANEC)
  51. Aicardi-Goutieres Syndrome Type-1 without Intracranial Calcifications
  52. Lathosterolosis - A Rare Treatable Cause for Global Developmental Delay, Cataract, and Liver Dysfunction Masquerading as Galactosemia
  53. The Clinical, Laboratory, Etiological Profile and Outcome of Acute Necrotizing Encephalitis of Childhood (ANEC) in Tertiary Care Centre from Southern India
  54. Ohtahara and West Syndrome due to Pyridox(am)ine-5-Phosphate Oxidase (PNPO) Deficiency with Novel Phenotype and Good Outcome without Pyridoxal-5′-Phosphate
  55. Neuroimaging Features of Biotinidase Deficiency
  56. A Randomized Controlled Trial on the Study of Effectiveness and Safety of Hormonal (ACTH) Treatment Alone versus Hormonal (ACTH) with Levetiracetam for Epileptic Spasms
  57. A Treatable Cause of Global Developmental Delay with Autism Spectrum Disorder Due to Cobalamin Related Remethylation Disorder
  58. Infantile Tremor Syndrome Masquerading as Glutaric Aciduria Type 1
  59. Recurrent Bilateral Lower Motor Neuron Type of Facial Palsy with Hearing Impairment: Hyperphosphatemic Familial Tumoral Calcinosis
  60. Compressive Myelopathy Secondary to TRPV4 Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type
  61. Case Series of Ethylmalonic Encephalopathy from Southern India
  62. Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases
  63. Infantile Tremor Syndrome Presenting as Stroke
  64. Nonepileptic Paroxysmal Events (NEPE) in Children
  65. Homocystinuria Due to MTHFR Variant Presenting As Infantile Tremor Syndrome
  66. A Treatable Cause of Global Developmental Delay with Epileptic Spasm and Delayed Myelination Due to Cobalamin-Related Remethylation Disorder
  67. Etiological Pattern of Movement Disorders in Children
  68. Cohort of Phenotype, Genotype, and Outcome of SCN Developmental and Epileptic Encephalopathies from Southern Part of India
  69. Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren–Larsson syndrome patients
  70. Oromandibular and Laryngeal Dystonia Secondary to Dystonia 6 Due to THAP1 Variant in a Child
  71. Effectiveness and Safety of Brivaracetam in Children
  72. Clinical, Demographic, and Electroencephalographic Profile of Hot-Water Epilepsy in Children
  73. Neurological Manifestations of Congenital Cytomegalovirus Infection at a Tertiary Care Centre from Southern India
  74. Treatable Cause of Pancytopenia, Recurrent Infections and Refractory Epilepsy: Secondary to Hereditary Folate Malabsorption (HFM) Due to Novel Pathogenic Variant
  75. Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India
  76. Alternating Hemiplegia of Childhood: A Series of Genetically Confirmed Four Cases from Southern India with Review of Published Literature
  77. Profile of Indian Children with Childhood Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease: A single Center Experience from Southern India
  78. Horizontal Gaze Palsy with Progressive Kyphoscoliosis
  79. Sotos Syndrome Presenting without Gigantism
  80. Expanding Phenotype of Hypomyelination and Congenital Cataract (HCC) with a Novel Pathogenic Variant
  81. Infantile Alexander Disease Presenting with Hydrocephalus and Epileptic Spasms
  82. Fucosidosis with Pathogenic Variant in FUCA1 Gene
  83. Report of Two Siblings with Andermann Syndrome
  84. Aicardi-Goutieres Syndrome Presenting with Congenital Glaucoma
  85. Recurrent Stroke Like Episodes Secondary to Ornithine Transcarbamylase Deficiency
  86. Waardenburg Syndrome Type I
  87. Kufor-Rakeb Syndrome/ Parkinson Disease Type 9
  88. Etiological Evaluation of Global Developmental Delay
  89. Infantile Tremor Syndrome (ITS) Presenting as Diabetic Ketoacidosis (DKA)
  90. Mitochondrial Membrane Protein Associated Neurodegeneration   (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life
  91. A Novel GCH1 Mutation in An Indian Child with GTP Cyclohydrolase Deficiency
  92. A Case of Juvenile Alexander Disease Presenting as Microcephaly
  93. Corticotrophin-ACTH in Comparison to Prednisolone in West Syndrome – A Randomized Study
  94. Acute flaccid myelitis—Clustering of polio-like illness in the tertiary care centre in Southern India
  95. Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene
  96. Biotin Thiamin Responsive Basal Ganglia Disease in Siblings
  97. Case Series of Infantile Tremor Syndrome in Tertiary Care Paediatric Centre from Southern India
  98. Mucolipidosis Type IV Due to Novel MCOLN1 Mutation
  99. Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene
  100. 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
  101. A case of Canavan disease with microcephaly
  102. An initiative to classify different neurological disorder in children using multichannel EEG signals
  103. Research letters
  104. Re-emergence of Tetanus: Epidemiological Features, Clinical Profile and Outcome from South India
  105. Correspondence
  106. Alternating hemiplegia of childhood during acute episode of gastroenteritis
  107. Idiopathic intracranial hypertension following measles vaccine
  108. Predictors of non-traumatic coma in a pediatric cohort from a South Indian tertiary care center: Results of a multivariate analysis
  109. Atypical vanishing white matter disease with microcephaly and hepatosplenomegaly provoked after diphtheria pertussis tetanus vaccination
  110. Study of etiological profile of infantile and childhood focal seizures at a tertiary care centre in South India
  111. Kearns-Sayre syndrome presenting as epilepsia partialis continua in a child
  112. Aicardi syndrome with type 2b interhemispheric cyst
  113. Isolated Cerebellitis in Scrub Typhus
  114. Secondary Hemophagocytic Lymphohistiocytosis Associated with Epstein-Barr Virus
  115. Clinical profile, predisposing factors, and associated co-morbidities of children with cerebral palsy in South India
  116. Ohtahara syndrome associated with hemimegalencephaly and intracranial lipoma
  117. Multiple Exostoses Presenting With High Cervical Myelopathy in the First Decade of Life
  118. G402(P)Clinical Profile of Tuberculosis in Pediatric HIV/AIDs
  119. Cerebral Palsy and Early Stimulation
  120. Chapter-01 Introduction
  121. Chapter-02 History
  122. Chapter-04 Epidemiology
  123. Chapter-03 Definition
  124. Chapter-06 Classification
  125. Chapter-08 Clinical Features
  126. Chapter-05 Etiology of Cerebral Palsy
  127. Chapter-09 Diagnosis
  128. Chapter-10 Cerebral Palsy Management
  129. Chapter-11 Probability of Walking
  130. Chapter-13 Prevention of Cerebral Palsy
  131. Chapter-15 Early Stimulation
  132. Chapter-07 Early Clinical Predictors of Cerebral Palsy (CP)
  133. Chapter-12 Natural History of Cerebral Palsy
  134. Chapter-14 Social and Community Level Intervention in Cerebral Palsy and Mental Retardation
  135. Paralytic rabies following cat scratch and intra-dermal anti-rabies vaccination
  136. Inflammatory Granulomas: Most Common Cause of Acute Symptomatic Focal Seizures
  137. Correspondence
  138. Symptomatic West Syndrome Secondary to Glucose Transporter-1(GLUT1) Deficiency with Complete Response to 4:1 Ketogenic Diet
  139. Parry-Romberg syndrome
  140. Incontinentia Pigmenti Presenting as Encephalopathy
  141. Acquired Immunodeficiency Syndrome With Subacute Sclerosing Panencephalitis
  142. Niemann-pick disease type a presenting as unilateral tremors
  143. Comparison of heart rate variability among children with well controlled versus refractory epilepsy: A cross-sectional study
  144. Efficacy of 4:1 (classic) versus 2.5:1 ketogenic ratio diets in refractory epilepsy in young children: A randomized open labeled study
  145. Renal agenesis and external iliac artery stenosis in an infant with moyamoya disease
  146. Thiamine Responsive Megaloblastic Anemia in Three Indian Children
  147. Vanishing White Matter Disease Associated With Ptosis and Myoclonic Seizures
  148. Management of Raised Intracranial Pressure
  149. Acute onset flaccid quadriparesis in pediatric non-Hodgkin lymphoma: Vincristine induced or Guillain-Barré syndrome?