Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition – Part II: Brain Malformations, Neurocutaneous Syndromes, Genetic Anomalies and Dysmorphic Syndromes (ebook)


Part II: Brain Malformations, Neurocutaneous Syndromes, Genetic Anomalies and Dysmorphic Syndromes from Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition

Chapter 3 – Developmental Brain Malformations by Nadia Bahi-Buisson and Nathalie Boddaert

  • Disorders of Ventral Induction
    • Holoprosencephaly
    • Conditions Related to Holoprosencephaly
  • Malformations of Cortical Development
    • Malformations Secondary to Abnormal Neuronal and Glial Proliferation or Apoptosis
    • Disorders of Migration
    • Malformations due to Abnormal Cortical Organisation
  • Abnormalities often Associated with Disorders of Cortical Development
    • Agenesis and Dysgenesis of the Corpus Callosum
    • Septo-Optic Dysplasia
    • Colpocephaly
  • Midbrain–Hindbrain Malformations
    • Predominantly Cerebellar Malformations
    • Cerebellar and Brainstem Malformations
    • Predominantly Brainstem Malformations
    • Predominantly Midbrain Malformations
  • Prenatal Diagnosis, Treatment and Prevention of Brain Malformations

Chapter 4 – Neurocutaneous Diseases and Syndromes by Eleni Panagiotakaki and Alexis Arzimanoglou

  • Neurofibromatoses
    • Neurofibromatosis Type 1
    • Neurofibromatosis Type 2
    • Other Forms of Neurofibromatosis
  • Tuberous Sclerosis Complex
  • Linear Nevus and Related Syndromes
    • Classic Linear Nevus Syndrome
    • Related Syndromes with Proliferative Skin and Subcutaneous Tissue Lesions
  • Neurocutaneous Syndromes with Prominent Vascular Components
    • Sturge–Weber Syndrome
    • Syndrome of Haemangiomas and Other Cardiovascular Defects (PHACES Syndrome)
    • Von Hippel–Lindau Disease
    • Hereditary Haemorrhagic Telangiectasia (Rendu–Osler–Weber Syndrome)
    • Rare Neurocutaneous Syndromes with Prominent Vascular Component
  • Syndromes with Various Cutaneous or Subcutaneous Tissue Anomalies
  • Ataxia-Telangiectasia and Related Disorders
    • Disorders Related to Ataxia-Telangiectasia
  • Neurocutaneous Syndromes with Abnormal Pigmentation
    • Incontinentia Pigmenti (Bloch–Sulzberger Type)
    • Incontinentia Pigmenti Achromians (Hypomelanosis of Ito)
    • Neurocutaneous Melanosis
    • Other Neurocutaneous Syndromes with Abnormal Pigmentation
  • Neuroichthyosis Syndromes
    • Sjögren–Larsson Syndrome
    • Trichothiodystrophy
  • Miscellaneous Neurocutaneous Syndromes
    • Nevoid Basal Cell Carcinoma (Gorlin-Goltz Syndrome)
    • Progressive Hemifacial Atrophy (Parry–Romberg Disease)
    • Lipoid Proteinosis (Urbach–Wiethe Disease)

Chapter 5 – Genetic Anomalies and Dysmorphic Syndromes by Karine Pelc and Bernard Dan

  • Down Syndrome
  • Fragile X Syndrome
  • Rett Syndrome
  • Angelman Syndrome
  • Prader–Willi Syndrome
  • The 22q11.2 Deletion Syndrome
  • Williams Syndrome
  • Cornelia De Lange Syndrome
  • Noonan Syndrome
  • Turner Syndrome
  • Klinefelter Syndrome
  • Smith–Magenis Syndrome
  • Sotos Syndrome
  • Cri-Du-Chat Syndrome
  • Kabuki Syndrome

About the Complete Book

The Premier Reference Book on Clinical Child Neurology.

Congenital or early-onset disorders of the nervous system have a profound and lifelong impact on the lives of children and their families. Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition provides up-to-date information on the full range of these neurological disorders, from fetal and neonatal neurology to adolescence.

Movement disorders, epilepsies and seizure disorders, metabolic diseases, auditory and visual disorders, and genetic anomalies are among the many topics covered in this text. Extensive reference lists at the end of each chapter guide the clinician to further relevant reading.

This fourth edition retains the patient-focussed, clinical approach of its predecessors. The international team of editors and contributors has honoured the request of the late Jean Aicardi, that his book remain ‘resolutely clinical’, which distinguishes Aicardi’s Diseases of the Nervous System in Childhood from other texts in the field. For further information about the history of this title and previous editions, please see Further Materials.

This edition:

  • Is completely revised and updated
  • Includes latest developments in genetic advances
  • Contains new chapters on basal ganglia diseases and psychogenic disorders
  • Has an easy-to-use one volume format with full-colour illustrations

Aicardi’s Diseases of the Nervous System in Childhood, 4th Edition remains the classic, user-friendly resource for busy clinicians in paediatric neurology, child neurology, general paediatrics, neurodisability, and all related medical disciplines.

Clinics in Developmental Medicine