All Stories

  1. Self-Limited Focal Epilepsies in Childhood: How Many and How to Treat
  2. A Systematic Review of Cutaneous Hypopigmentation Disorder Associated with Neurologic Involvement
  3. Clinical Presentation, Management and Outcome of Cerebral Echinococcosis in Children: A Systematic Review and Meta-Analysis
  4. CHOLEDOCHAL CYSTS: THE DIAGNOSTIC RELIABILITY OF ULTRASOUND
  5. Non-SMN-linked Spinal Muscular Atrophy: From Genes to Clinical Phenotypes via Diagnostic Implications; A Systematic Review
  6. The Many Faces of Child Abuse: How Clinical, Genetic and Epigenetic Correlates Help Us See the Full Picture
  7. Congenital Localized Hypopigmentation Disorders as a Clue of Severe Neurologic Involvement: An Update Review
  8. Is Precision Therapy in Infantile-Onset Epileptic Encephalopathies Still Too Far to Call Upon?
  9. Extracorporeal Membrane Oxygenation as Life Support in Neonatal Respiratory Failure: A Single-Center Cohort Study and a Systematic Review
  10. High-Flow Oscillatory Ventilation: A Possible Therapeutic Option for Pediatric Patients with Cardiovascular Diseases
  11. SARS-CoV-2-Related Parotitis in Children: A Narrative-Focused Review
  12. Adapted Physical Activity Programs for Children with Autism Spectrum Disorder and Neurotypical Children: Differences between Online and Face-to-Face Training
  13. Pediatric Lemierre’s Syndrome: A Comprehensive Literature Review
  14. Urea/Creatinine Ratio’s Correlation with Creatine Kinase Normalization in Pediatric COVID-19 Patients with Myositis: Evaluating Prognostic and Predictive Value
  15. Coronavirus OC43 and Influenza H3N2 Concomitant Unilateral Parotitis: The Importance of Laboratory Tests in Mumps-Like Parotitis
  16. Klippel–Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review
  17. Need for palliative care from birth to infancy in pediatric patients with neurological diseases
  18. SARS-CoV-2 and Swabs: Disease Severity and the Numbers of Cycles of Gene Amplification, Single Center Experience
  19. Post-Infectious Acute Cerebellar Ataxia Treatment, a Case Report and Review of Literature
  20. Febrile infection-related Epilepsy Syndrome (FIRES): a severe encephalopathy with status epilepticus. Literature review and presentation of two new cases
  21. Impressive Nasal Septum Regeneration after Cord Blood Platelet Gel (CBPG) in Extreme Premature Neonate with Non-Invasive Ventilation: A Case Report
  22. SARS-CoV-2: The Impact of Co-Infections with Particular Reference to Mycoplasma pneumonia—A Clinical Review
  23. Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis—Literature Review
  24. Preventive strategies, exercises and rehabilitation of hand neuropathy in cyclists: A systematic review
  25. Neonatal ischemic limb lesions: From etiology to topical nitroglycerine. A case series analysis
  26. Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability
  27. Obsessive-Compulsive Disorder in PANS/PANDAS in Children: In Search of a Qualified Treatment—A Systematic Review and Metanalysis
  28. A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of MARCH1
  29. The Evolution of the Role of Imaging in the Diagnosis of Craniosynostosis: A Narrative Review
  30. Malformations of Cortical Development, Cognitive Involvementand Epilepsy: A Single Institution Experience in 19 Young Patients
  31. Diagnosis, Rehabilitation and Preventive Strategies for Pudendal Neuropathy in Cyclists, A Systematic Review
  32. Vitamin B12 Deficiency and West Syndrome: An Uncommon but Preventable Cause of Neurological Disorder. Report on Three Cases, One of Them with Late Onset during Vitamin B12 Treatment
  33. Dynamic and Static Splinting for Treatment of Developmental Dysplasia of the Hip: A Systematic Review
  34. Alternating Hemiplegia of Childhood, neurological comorbidities, intrafamilial variability: case-reports and literature review.
  35. Silent COVID-19: what your skin can reveal
  36. Cerebral Palsy and Epilepsy in Children: Clinical Perspectives on a Common Comorbidity
  37. Neurodevelopmental outcomes of neonatal non‐epileptic paroxysmal events: a prospective study
  38. A Systematic Review of Pharmacologic and Rehabilitative Treatment of Small Fiber Neuropathies
  39. Chilblains‐like lesions and SARS‐CoV ‐2 in children: An overview in therapeutic approach
  40. Ketogenic diet for infants with epilepsy: A literature review
  41. PANS/PANDAS: Clinical Experience in IVIG Treatment and State of the Art in Rehabilitation Approaches
  42. Perinatal Femoral Fracture: A Ten-Year Observational Case Series Study
  43. Diagnostic Clue in a Neonate with Amniotic Band Sequence
  44. Alternating Hemiplegia of Childhood and Neurological Comorbidities. Variable Intrafamilial Clinical Features.
  45. A novel GABRB3 variant in Dravet syndrome: Case report and literature review
  46. Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures
  47. Anti-MOG Antibody Syndrome and Cerebral Sinovenous Thrombosis: A Cause–Effect Hypothesis
  48. COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases
  49. West syndrome: a comprehensive review
  50. A Case of COVID-19 with Late-Onset Rash and Transient Loss of Taste and Smell in a 15-Year-Old Boy
  51. Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2
  52. Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion
  53. Oxidative Stress in Preterm Infants: Overview of Current Evidence and Future Prospects
  54. Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype
  55. Clinicoradiographic data and management of children with Chiari malformation type 1 and 1.5: an Italian case series
  56. Secondary Scoliosis as a Complication of Acute Transverse Myelitis in a Child
  57. Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the coexistence of a novel FGD1 mutation and 16p13.11-p12.3 microduplication
  58. Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis
  59. Correction to: advanced olfactory neuroblastoma in a teenager: a clinical case and short review of literature
  60. N-BiPAP vs n-CPAP in term neonate with respiratory distress syndrome
  61. Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication
  62. Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy
  63. Advanced olfactory neuroblastoma in a teenager: a clinical case and short review of literature
  64. Neuroaspergillosis as the Presenting Sign of a Chronic Granulomatous Disease
  65. The role of polytherapy in the management of epilepsy: suggestions for rational antiepileptic drug selection
  66. Epileptic Seizures in Non-syndromic Megalencephaly (MEG): A Case Series in our Department
  67. Cerebral Palsy in Children: Evaluation of Clinical Outcomes
  68. PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
  69. 7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Literature review
  70. Haemophilic arthropathy: A narrative review on the use of intra‐articular drugs for arthritis
  71. Acute Motor Axonal Neuropathy in a 5-Month-Old Child
  72. Focal Neuropathy Mimicking Focal Dystonia in a Child: Diagnostic and Rehabilitative Tools
  73. Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndrome—Literature Review
  74. Optic Neuropathy, Secondary to Ethmoiditis, and Onodi Cell Inflammation during Childhood: A Case Report and Review of the Literature
  75. Congenital Genetic Microcephaly: Clinical Diagnostic Approach
  76. Giant melanocytic nevi and soft tissue undergrowth in the left leg: Pathogenetic hypothesis
  77. Short-Term Neurodevelopmental Outcome in Term Neonates Treated with Phenobarbital versus Levetiracetam: A Single-Center Experience
  78. Molecular Mechanism Involved in the Pathogenesis of Early-Onset Epileptic Encephalopathy
  79. Grisel Syndrome in Pediatric Age: A Single-Center Italian Experience and Review of the Literature
  80. Epilepsy in Children: From Diagnosis to Treatment with Focus on Emergency
  81. Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa
  82. Arterial ischemic stroke (AIS) in childhood: clinical report from a single control center
  83. Serum concentrations of perfluorinated compounds among children living in Sicily (Italy)
  84. Epilepsy in Children: From Diagnosis to Treatment
  85. Expression of the OAS Gene Family Is Highly Modulated in Subjects Affected by Juvenile Dermatomyositis, Resembling an Immune Response to a dsRNA Virus Infection
  86. Grisel’s syndrome caused by Mycoplasma pneumoniae infection: a case report and review of the literature
  87. Ptosis in childhood
  88. A Case Report of Overlapping Miller Fisher Syndrome, Guillain-Barré Syndrome, and the Bickerstaff Brainstem Encephalitis
  89. A Probable Topiramate-induced Limbs Paraesthesia and Rigid Fingers Flexion
  90. Chromosome 2p15-p16.1 microduplication in a boy with congenital anomalies: Is it a distinctive syndrome?
  91. Benign and severe early-life seizures: a round in the first year of life
  92. Acute hyperkinetic movement disorders in Italian paediatric emergency departments
  93. Pyridoxine Add-On Treatment for the Control of Behavioral Adverse Effects Induced by Levetiracetam in Children: A Case-Control Prospective Study
  94. Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15)
  95. Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication
  96. Electroclinical pattern and epilepsy evolution in an infant with Miller–Dieker syndrome
  97. Clinical spectrum of woolly hair: indications for cerebral involvement
  98. Cervical neurenteric cyst and Klippel-Feil syndrome: An abrupt onset of myelopathic signs in a young patient
  99. Biological Drugs in Guillain-Barré Syndrome: An Update
  100. A New Patient with Potocki–Lupski Syndrome: A Literature Review
  101. Resuming the obsolete term “small head”: when microcephaly occurs without cognitive impairment
  102. Erratum: Single-Epileptic Spasms with or without Hypsarrhythmia: A Study of 16 Patients
  103. A clinical review on megalencephaly
  104. Adaptive psychological structure in childhood hearing impairment: audiological correlations
  105. Single-Epileptic Spasms with or without Hypsarrhythmia: A Study of 16 Patients
  106. Pediatric status epilepticus: improved management with new drug therapies?
  107. Randomized Comparison of Helmet CPAP Versus High-Flow Nasal Cannula Oxygen in Pediatric Respiratory Distress
  108. Epilepsy
  109. Clinical Course of N-Methyl-D-Aspartate Receptor Encephalitis and the Effectiveness of Cyclophosphamide Treatment
  110. Therapeutic approaches to pediatric pseudotumor cerebri: New insights from literature data
  111. Ataxia in children: early recognition and clinical evaluation
  112. Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts
  113. Pediatric autoimmune encephalitis
  114. Levetiracetam in neonatal seizures as first-line treatment: A prospective study
  115. Hyperprolinemia Type IA
  116. The Gut–brain axis: A new pathogenic view of neurologic symptoms – Description of a pediatric case
  117. The Role of Dendritic Cells in Central Nervous System Autoimmunity: Focusing on Multiple Sclerosis and Emerging Therapeutics Targeting Dendritic Cells
  118. Array-CGH in pediatric neurology: A prospective observational study
  119. Congenital muscular dystrophy: from muscle to brain
  120. Aripiprazole for the treatment of irritability and aggression in children and adolescents affected by autism spectrum disorders
  121. A girl with a 14.7 Mb 3q26.32–q28 duplication
  122. Child Abuse Syndrome (CAS): A Newly Recognized Distinct Entity
  123. A neurocutaneous phenotype with paired hypo- and hyperpigmented macules, microcephaly and stunted growth as prominent features
  124. Prognostic Challenges of SCN1A Genetic Mutations: Report on Two Children with Mild Features
  125. A mild phenotype associated with a de novo microdeletion 10q23.1-q23.2: a new patient with a novel feature
  126. Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type
  127. Acetaminophen administration in pediatric age: an observational prospective cross-sectional study
  128. Holoprosencephaly and Recurrent Episodes of Severe Neurogenic Hypernatremia
  129. Nervous system involvement in clinical peripheral inflammation: A description of three pediatric cases
  130. Seizures Are Not a Prevalent Feature of Wyburn-Mason Syndrome
  131. Nevus Sebaceous and Its Association With Neurologic Involvement
  132. Refractory absence seizures: An Italian multicenter retrospective study
  133. Natalizumab in multiple sclerosis: discontinuation, progressive multifocal leukoencephalopathy and possible use in children
  134. Clinical dissection of childhood occipital epilepsy of Gastaut and prognostic implication
  135. The usefulness of immunotherapy in pediatric neurodegenerative disorders: A systematic review of literature data
  136. Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes
  137. Epilepsy and innate immune system: A possible immunogenic predisposition and related therapeutic implications
  138. Peripheral neuropathy in a child with Mycoplasma pneumoniae infections
  139. Propranolol: Effectiveness and Failure in Infantile Cutaneous Hemangiomas
  140. Legumes steam allergy in childhood: Update of the reported cases
  141. Incidence of Mediterranean Spotted Fever in Sicilian children: a clinical-epidemiological observational retrospective study from 1987 to 2010
  142. Hypomelanosis of Ito: a round on the frequency and type of epileptic complications
  143. A Selective Mutism Arising from First Language Attrition, Successfully Treated with Paroxetine-CBT Combination Treatment
  144. Asthma and hypoxia
  145. Sodium metabisulphite allergy with multiple food and drug hypersensitivities in a five-year-old child: A case report and literature review
  146. The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features
  147. Epileptic seizures as a manifestation of cow’s milk allergy: a studied relationship and description of our pediatric experience
  148. Hydranencephaly: cerebral spinal fluid instead of cerebral mantles
  149. Infantile spasms syndrome, West syndrome and related phenotypes: What we know in 2013
  150. Three Cases of Palatal Tics and Gilles De La Tourette Syndrome
  151. Unilateral Eye Blinking Arising From the Ictal Ipsilateral Occipital Area
  152. Clinical guidelines in pediatric headache: evaluation of quality using the AGREE II instrument
  153. Down syndrome and arterial ischemic stroke in childhood: A potential immunologic link with selective IgG4 subclass deficiency
  154. Usefulness of video-EEG in the paediatric emergency department
  155. Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13
  156. Corrigendum to “Lacosamide in pediatric and adult patients: Comparison of efficacy and safety” [Seizure 22 (2013) 210–216]
  157. Targeting inflammation as a therapeutic strategy for drug-resistant epilepsies
  158. Corrigendum to “Reflex myoclonic epilepsy in infancy: A multicenter clinical study” [Epilepsy Res. 103 (2013) 237–244]
  159. Klippel-Trenaunay syndromein a boy with concomitant ipsilateral overgrowth and undergrowth
  160. Rapid Spontaneous Resolution of Fibromatosis Colli in a 3-Week-Old Girl
  161. A new clinical feature associated with familial early-onset of dystonic-guttural tics: An unusual diagnosis of PANDAS
  162. Valproate in adolescents with photosensitive epilepsy with generalized tonic–clonic seizures only
  163. Polysomnographic evaluation of non-invasive ventilation in children with neuromuscular disease
  164. The immunomodulatory effect of probiotics beyond atopy: an update
  165. Electroclinical Features and Long-Term Outcome of Cryptogenic Epilepsy in Children with Down Syndrome
  166. Gelastic seizures due to hypothalamic hamartoma: Rapid resolution after endoscopic tumor disconnection
  167. Noninvasive ventilation in pediatric emergency care: a literature review and description of our experience
  168. Noninvasive ventilation for acute respiratory distress in children with central nervous system disorders
  169. Clinical dissection of early onset absence epilepsy in children and prognostic implications
  170. Spinal Neurofibromatosis with Central Nervous System Involvement in a Set of Twin Girls and a Boy: Further Expansion of the Phenotype
  171. Reflex myoclonic epilepsy in infancy: a critical review
  172. Sublingual immunotherapy in preschool children: an update
  173. Lacosamide in pediatric and adult patients: Comparison of efficacy and safety
  174. Natural history of neurofibromatosis type 2 with onset before the age of 1 year
  175. Reflex myoclonic epilepsy in infancy: A multicenter clinical study
  176. Congenital familial myasthenic syndromes: disease and course in an affected dizygotic twin pair
  177. West Syndrome Treatment: New Roads for an Old Syndrome
  178. Cutaneous and Leptomeningeal Hemangiomas With Impressive Benign Evolution
  179. The Immunomodulatory Effect of Probiotics Beyond Atopy: An Update
  180. Hemihydranencephaly: living with half brain dysfunction
  181. Congenital myasthenic syndromes: Clinical and molecular report on 7 Sicilian patients
  182. Acute Glomerulonephritis in a Child withChlamydia pneumoniaeInfection: A Case Report
  183. Vitamin D3 an ever green molecule
  184. Non-Epileptik Psikojen Nöbetler: Klinik Pratikte Çözülmesi Zor Tanısal Bir Problem
  185. Interstitial 16p13.3 microduplication: Case report and critical review of genotype–phenotype correlation
  186. Apneic crises: A clue for MECP2 testing in severe neonatal hypotonia-respiratory failure
  187. Spine and brain malformations in a patient obligate carrier of MTHFR with autism and mental retardation
  188. Autonomic Dysfunction Manifesting With Asymmetric Face Flushing and Paroxysmal Nonconvulsive Episodes
  189. Primary Headaches in Children: Clinical Findings and the Association with other Conditions
  190. Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke–Davidoff–Masson type in two patients
  191. Diagnosis and management of catamenial seizures: a review
  192. Ohtahara syndrome with emphasis on recent genetic discovery
  193. Congenital talipes equinovarus: an epidemiological study in Sicily
  194. Acquired Peripheral Neuropathy: A Report on 20 Children
  195. An 11-Year Follow-up Study of Neonatal-Onset, Bath-Induced Alternating Hemiplegia of Childhood in Twins
  196. Microcephaly associated with Legg-Calvè-Perthes disease in two siblings
  197. Hepatic echinococcosis: Clinical and therapeutic aspects
  198. The role of micronutrients in the diet of HIV-1-infected individuals
  199. Primary headache: Role of investigations in a cohort of young children and adolescents
  200. Generalised epilepsy with febrile seizures plus (GEFS+): molecular analysis in a restricted area
  201. Long-term outcome of epilepsy in Kabuki syndrome
  202. Hopkins’ syndrome
  203. P16.10 Update on childhood-onset spinal muscular atrophy: a retrospective study of 75 cases
  204. Erratum to “Recurrent Hopkin's syndrome: A case report and review of the literature” [J Neurol Sci 297 (2010) 89–91]
  205. Long-term neurological outcome of a sextuplet pregnancy
  206. Acute Disseminated Encephalomyelitis: A Long-Term Prospective Study and Meta-Analysis
  207. Dysembryoplastic Neuroepithelial Tumors: A Prospective Clinicopathologic and Outcome Study of 13 Children
  208. Recurrent Hopkin's syndrome: A case report and review of the literature
  209. Neurological Manifestations in Individuals with Pure Cutaneous or Syndromic (Ruggieri-Happle Syndrome) Phenotypes with “Cutis Tricolor”: A Study of 14 Cases
  210. First case of dizygous twins with X-linked α-thalassemia/mental retardation syndrome showing wide clinical variability
  211. The neurology of coeliac disease in childhood: what is the evidence? A systematic review and meta-analysis
  212. A boy born with multiple lesions of atrophoderma
  213. Neonatal onset of bath-induced alternating hemiplegia of childhood
  214. Neonatal Autoimmune Hypothyroidism: A Patient Report
  215. Lissencephalic syndromes brain and beyond
  216. The aristaless Arx gene one gene for many interneuronopathies
  217. Recurrent obstructive hydrocephalus in a 4-month-old infant
  218. Microcephaly, sensorineural deafness and Currarino triad with duplication–deletion of distal 7q
  219. Headache in Pediatric Patients With Celiac Disease and Its Prevalence as a Diagnostic Clue
  220. A Syndrome with Coarse Face, Mental Retardation and Unusual Stereotyped Movements
  221. Ganglioneuroblastoma-associated Vitamin D Deficiency Rickets
  222. Incidence and causes of neonatal hyperbilirubinemia in a center of Catania
  223. Symptomatic hypocalcemia in an epileptic child treated with valproic acid plus lamotrigine: a case report
  224. Voluntary selective big toe dorsal flection: pseudo-Babinski phenomenon?
  225. Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke
  226. Infantile spasms in the setting of Sturge–Weber syndrome
  227. Headache in paediatric patients with celiac disease and its prevalence as a diagnostic clue
  228. Neurofibromatosis type 1 and infantile spasms
  229. Reply
  230. Pseudohypoparathyroidism Ia With Evans Syndrome
  231. Congenital Lymphedema-lymphangiectasia Associated With Scrotal Angiokeratoma (Fordyce Type) and Hearing Impairment
  232. Low Prevalence of Neurologic and Psychiatric Manifestations in Children with Gluten Sensitivity
  233. Neonatal onset of hot water reflex seizures in monozygotic twins subsequently manifesting episodes of alternating hemiplegia
  234. Otologic findings in children with gastroesophageal reflux
  235. Polyneuritis Cranialis: Full Recovery after Intravenous Immunoglobulins
  236. Rotavirus and Celiac Disease
  237. Protective effects of the sigma agonist Pre-084 in the rat retina
  238. Anton-Babinski syndrome in a child with early-stage adrenoleukodystrophy
  239. Callosal anomalies with interhemispheric cyst: Expanding the phenotype
  240. Chronic Yersinia Enterocolitis Infection Presenting as Intestinal Obstruction
  241. Increased Antistreptococcal Antibody Titers and Anti—Basal Ganglia Antibodies in Patients With Tourette Syndrome: Controlled Cross-Sectional Study
  242. Topical Review: Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infection: Sydenham Chorea, PANDAS, and PANDAS Variants
  243. Blink reflex abnormalities in children with Tourette syndrome
  244. Septo-Optic Dysplasia Complex: A Heterogeneous Malformation Syndrome
  245. Clinical Heterogeneity in Familial Congenital Ptosis: Analysis of Fourteen Cases in One Family Over Five Generations
  246. STROKE IN TWO CHILDREN WITH MYCOPLASMA PNEUMONIAE INFECTION A CAUSAL OR CASUAL RELATIONSHIP?
  247. Callosal anomalies with interhemispheric cyst: Expanding the phenotype
  248. A Complex Brain Malformation Syndrome with Rhombencephalosynapsis, Preaxial Hexadactyly plus Facial and Skull Anomalies
  249. Congenital Insensitivity to Pain with Anhidrosis (NTRK1 Mutation) and Early Onset Renal Disease: Clinical Report on Three Sibs with a 25-Year Follow-Up in One of Them
  250. Liver transplantation in a child with celiac disease
  251. CNS findings in three cases of septo-optic dysplasia, including one with semilobar holoprosencephaly
  252. Fetal Cells in Maternal Blood: A Six-Fold Increase in Women who have Undergone Amniocentesis and Carry a Fetus with Down Syndrome: A Multicenter Study
  253. Ophthalmological manifestations in segmental neurofibromatosis type 1
  254. Epilepsy is not a Prominent Feature of Primary Autism
  255. Peripheral Neuropathy as First Sign of Ulcerative Colitis in a Child
  256. Anti-brain antibodies in PANDAS versus uncomplicated streptococcal infection
  257. Autoimmune Hepatitis Associated with Celiac Disease in Childhood: Report of Two Cases
  258. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease
  259. Reply to Dr Hahn
  260. Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD
  261. Lobar Holoprosencephaly
  262. White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI
  263. Clinical heterogeneity in eyelid myoclonia, with absences, and epilepsy
  264. Holoprosencephaly (Lobar Form) Associated With Bilateral Vocal Cord Palsy
  265. Long-Term Survival in a Child With Arthrogryposis Multiplex Congenita and Spinal Muscular Atrophy
  266. Neuropsychological assessment in children with absence epilepsy
  267. A Genomewide Screen for Autism Susceptibility Loci
  268. Fetal Nucleated Red Blood Cell Counts in Peripheral Blood of Mothers Bearing Down Syndrome Fetus
  269. Neuropsychological assessment in children with absence epilepsy
  270. Lack of progression of brain atrophy in Aicardi-Goutières syndrome
  271. Hemihydranencephaly: Case Report and Literature Review
  272. Hemihydranencephaly: Case Report and Literature Review
  273. Noninvasive prenatal diagnosis of chromosomal aneuploidies by isolation and analysis of fetal cells from maternal blood
  274. Arthrogryposis Multiplex Congenita and Pituitary Ectopia. A Case Report
  275. Tuberous breast deformity in an adolescent girl with Hurler-Scheie syndrome
  276. Diabetes insipidus in neurobrucellosis
  277. Diffuse Polymicrogyria Associated With Congenital Hydrocephalus, Craniosynostosis, Severe Mental Retardation, and Minor Facial and Genital Anomalies
  278. Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: Association or new syndrome?
  279. Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: Association or new syndrome?
  280. Temporal Triangular Alopecia in Association With Mental Retardation and Epilepsy in a Mother and Daughter
  281. Recurrent peripheral neuropathy in a girl with celiac disease
  282. Extraordinary intrathecal bone reaction in β-thalassaemia intermedia
  283. Marin-Amat Syndrome: Case Report and Review of the Literature
  284. Vein of Galen Malformation and Infantile Spasms