All Stories

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