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NEURAL  TUBE  DEFECTS C. Ramos Perea, MD. FAAP. Associate Professor Universidad Central del Caribe y Escuela Medicina Ponce
INTRODUCTION ,[object Object],[object Object],[object Object]
Vertebral anatomy Vertebral arches(lamina ) Spinous process Vertebral canal Vértebra body TRANSVERSE FORAMEN Articular process Contains arteries & veins
Intro  -  cont. ,[object Object],[object Object],[object Object],[object Object],[object Object]
Intro – cont. ,[object Object],[object Object],[object Object]
 
Events in the 3-4 week
 
 
 
Intro – cont. ,[object Object],[object Object],[object Object],[object Object]
Epidemiology ,[object Object],[object Object],[object Object],[object Object],[object Object]
Anencephaly
Neurological lesions cont. ,[object Object]
Epidemiology – cont. ,[object Object],[object Object],[object Object],[object Object],[object Object]
Epidemiology cont. ,[object Object],[object Object]
Epidemiology cont. ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Embryology ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Embryology cont . ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Embryology cont. ,[object Object],[object Object],[object Object]
Etiology ,[object Object],[object Object],[object Object],[object Object]
Etiology  cont. ,[object Object],[object Object],[object Object],[object Object]
Etiology  cont. ,[object Object],[object Object],[object Object],[object Object]
Normal Folate Adequate Folate – Healthy Cells Deficient Folate – Unhealthy Cells Perspective on Folate Deficiency Megaloblastic Anemia
50% of U.S. pregnancies are unplanned Folic acid is needed before conception NTDs occur very early in pregnancy Importance of timing in getting folic acid
Median serum and red blood cell folate levels,  before  and  after  folic acid fortification,  U.S. women, aged 15-44 years, NHANES   SOURCE: CDC/NCHS, National Health and Nutrition Examination Surveys, 1988-94 and 1999-2000 4.8 0 5 10 15 20 ng/mL Serum folate 13.0 Before After ng/mL 159.9 263.6 0 50 100 150 200 250 300 350 Red blood cell folate Before After
Diagnostic Detection and Associated  Neurological Lesions. ,[object Object],[object Object],[object Object],[object Object]
Conditions Associated with AFP ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Neurological lesions ,[object Object],[object Object],[object Object]
Spina Bifida Occulta
Neurological lesions  cont. ,[object Object]
Neurological lesions cont. ,[object Object],[object Object]
Meningomyelocele
 
Neurological lesions cont. ,[object Object]
Neurological lesions cont. ,[object Object],[object Object],[object Object],[object Object],[object Object]
Large occipital encephalocele
Lypomyelomeningocele The left child is a dorsal lipoma – pedunculated. The right child lypomatous mass beneath the skin. Both passed through the dura to the intradural space.
                                                    Spinal cord (close up)  location of spina bifida Occulta Outer part of vertebrae not completely joined. Spinal cord and covering (meninges) usually undamaged. Hair often at site of defect. Meningocele Outer part of vertebrae split. Spinal cord usually normal. Meninges damaged and displaced through opening. Myelomeningocele Outer part of vertebrae split. Spinal cord and meninges damaged and displaced through opening. Usually hydrocephalus.
Anomalies Associated with Myelomeningocele   Approximate Percent of Patients   Chiari II malformation 90%+ Hydrocephalus  90%+ Syringomyelia  88% Brainstem malformations (cranial nerve)  75% Cerebral ventricle abnormalities  90%+ Cerebellar heterotopias  40% Cerebral heterotopias  40% Agenesis of the corpus callosum 12% Polymicrogyria 15-30%
 
Signs and Symptoms ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Spina Bifida Occulta The child has long hairy tail with underline spina bifida occulta.
Treatment and option s ,[object Object],[object Object],[object Object],[object Object]
Initial Exam + Treatment ,[object Object],[object Object],[object Object],[object Object],[object Object]
Treatment cont. ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Innovative Fetal Surgery  ,[object Object],[object Object]
HAND OF HOPE
Innovative Fetal Surgery cont. ,[object Object],[object Object],[object Object]
Hydranencephaly
Sirenomelia-mermaid
Onphalocele
Exencephaly
Gastroschisis
Encephalocele; Rachischisis; Iniencephaly
Holoprocencephaly sequence
Mid line anomalies “ El bosque seria muy triste si solo cantaran los pájaros que lo hacen mejor”rabindranath tagore
 
[object Object],[object Object],[object Object]

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Neural tube defects