Neurulation and Neural Tube Defects
Neurulation has been extensively studied in amphibian, avian and mammalian embryos and occurs in four stages: formation of the neural plate, shaping of the neural plate, bending of the neural plate and closure of the neural groove. The rostral part of the
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Neurulation and Neural Tube Defects Hans J. ten Donkelaar, Mireille Bekker, Willy O. Renier, Akira Hori, and Kohei Shiota
Contents 4.1
Introduction .....................................................................
165
4.2 Primary Neurulation ....................................................... 4.2.1 Primary Neurulation in Chick and Mammalian Embryos ............................................................................ 4.2.2 Primary Neurulation in Human Embryos .........................
166 166 170
4.3
Secondary Neurulation ...................................................
173
4.4
Genetic Mouse Models for Neural Tube Defects ..........
175
4.5 Aetiology of Human Neural Tube Defects..................... 4.5.1 Genetic Basis: Neural Tube Defects as a Multifactorial Trait ............................................................ 4.5.2 Environmental Factors ......................................................
176
4.6
177 178
4.7.2 Encephaloceles and Cranial Meningoceles ....................... Clinical Case 4.3. Occipital Encephalocele ...................... Clinical Case 4.4. Tectocerebellar Dysraphia ................... Clinical Case 4.5. Cranial Meningoceles .......................... Clinical Case 4.6. Rudimentary Occipital Meningocele ......................................................................
187 190 191 192 194
4.8 Spinal Neural Tube Defects ............................................ 4.8.1 Myeloceles, Myelomeningoceles and Spinal Meningoceles .................................................................... Clinical Case 4.7. The Spectrum of Deranged Neurulation ........................................................................ 4.8.2 Spinal Lipomas.................................................................. Clinical Case 4.8. Spinal Lipomas .................................... 4.8.3 Spina Bifida Occulta and Related Disorders ..................... 4.8.4 The Tethered Spinal Cord Syndrome ................................ Clinical Case 4.9. Tethered Spinal Cord Syndrome ..........
196
198 200 201 203 203 204
197
Prenatal Diagnosis and Fetal Therapy .......................... Clinical Case 4.1. Prenatal Diagnosis of NTDs ................
178 179
4.9
The Chiari Malformations..............................................
205
4.7 Cranial Neural Tube Defects .......................................... 4.7.1 Anencephaly ...................................................................... Clinical Case 4.2. Ependymoblastomatous Exencephaly ......................................................................
180 181
4.10
Caudal Dysgenesis ........................................................... Clinical Case 4.10. OEIS Complex ...................................
207 210
185
References ....................................................................................
211
H.J. ten Donkelaar, M.D., Ph.D. (*) 935 Departments of Neurology, Radboud University Nijmegen Medical Centre, 9101, 6500 HB Nijmegen, The Netherlands e-mail: hans.tendo
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