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Neural Birth Defects

Neural Birth Defect

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Neural Birth Defects

  1. 1. JIMMA UNIVERSITYJIMMA UNIVERSITY INSTITUTE OF HEALTH SCIENCES FACULTY OFINSTITUTE OF HEALTH SCIENCES FACULTY OF MEDICAL SCIENCESMEDICAL SCIENCES DEPARTEMENT OF BIOMEDICAL SCINCEDEPARTEMENT OF BIOMEDICAL SCINCE ANATOMYANATOMY seminar presentation:- Neural Tube defects Presented by:- Urge.G (MSc student ) Modulator:- Getachew.C (MSc) 05/21/18 1
  2. 2. Outline 05/21/18 2
  3. 3. Objectives 305/21/18
  4. 4. Introduction • Failure of normal fusion of the neural plate to form neural tube during the first 28 days following conception. • Neural tube defects (NTDs) are one of the most common birth defects, occurring in approximately one in 1000 live births in the United States. Dolk et al. (2000). 05/21/18 4
  5. 5. Cont… • Neural tube defects (NTDs) are among the most common birth defects that cause infant mortality (death) and serious disability. • Increased incidence in families. K.K. Sulik etal (2001). 05/21/18 5
  6. 6. Neural Tube Development Normal embryological development • Neural plate development -18th day • Cranial closure 25th day (upper spine) • Caudal closure 27th day (lower spine) 05/21/18 6
  7. 7. Etiology of NTDs & Risk factors Combination of environmental and genetic causes McInnes RR, etal(2007). Teratogens :  Drugs  Radiation Infection and maternal illnesses. Nutritional deficiencies :-folic acid deficiency Figueiredo JC etal (2009). 05/21/18 7
  8. 8. Risk factor • All pregnancies are at risk for an NTD. However women with a history of a previous pregnancy with ( NTD). • women with first degree relative with(NTD) • women with type 1 diabetes mellitus • women with seizure disorders on Na valproic acid. • women or their partners who themselves have an NTD. Padmanabhan et al (2006). 05/21/18 8
  9. 9. Risk factor • Socio-economics factors • Chemical factors • Vitamin A • Cigarettes smoking during pregnancy • Maternal age • Hyperthermia Hosako. H etal (2009). 05/21/18 9
  10. 10. Types of NTDs 1 - Open NTDs ( most common) : occur when the brain and/or spinal cord are exposed at birth through a defect in the skull or vertebrae. • Spina bifida-60% • Anencephaly-30% • Encephalocele-10% Pitkin RM etal(2007) 05/21/18 10
  11. 11. Types of NTDs 2- closed NTDs (Rarer type ): occur when the spinal defect is covered by skin. • lipomyelomeningocel • lipomeningocele 05/21/18 11
  12. 12. Spina Bifida A midline defect of the • bone, • skin, • spinal column, &/or • spinal cord. 05/21/18 12
  13. 13. Types of Spina Bifida 1 - Spina Bifida Occulta(closed ) • mildest form ( meninges do not herniate through the opening in the spinal canal ) 2 -Spina Bifida Cystica ( open) : • meningocele and myelomeningocele . 05/21/18 13
  14. 14. 1-Spina bifida occulta  Failure of fusion of the vertebral arch .  The meninges do not herniate through the bony defect.  This lesion is covered by skin. 05/21/18 14
  15. 15. Spina bifida occulta Symptoms : • Difficulties controlling bowel or bladder . • weakness and numbness in the feet • recurrent ulceration . • neurological deficits increase with growth. • Signs : • Overlying skin lesion : • tuft hair- lipoma - birth mark or small dermal sinus • Usually in the lumbar region . 05/21/18 15
  16. 16. 2-Spina bifida Cystica • The 2 major types of defects meningoceles and myelomeningoceles • lumobosacral regions are the most common sites • Cervical and thoracic regions are the least common sites. 05/21/18 16
  17. 17. Meningocele • Herniation of the meninges through the bony defect. • Fluid-filled sac with meninges involved but neural tissue unaffected • The spinal cord and nerve roots do not herniate into this dorsal dural sac. 05/21/18 17
  18. 18. Meningocele • Neonates with a meningocele usually have normal findings upon physical examination and a covered (closed) dural sac. • Neonates with meningocele do not have associated neurologic malformations such as Hydrocephalus or Chiari II mal formation. • May complicated by CSF infection. 05/21/18 18
  19. 19. Myelomeningocele  The spinal cord and nerve roots herniate into a sac comprising the meninges.  This sac protrudes through the bone and musculocutaneous defect.  neurologic anomalies such as :  Hydrocephalus Chiari II malformation 05/21/18 19
  20. 20. Myelomeningocele Symptoms & sings : • Variable paralysis of the legs. • Muscle imbalance . • Sensory loss . • Bladder denervation ( neuropathic ) • Bowel denervation . • Scoliosis . • Arnold Chiari malformation . 05/21/18 20
  21. 21. Arnold Chiari Malformation • Herniation of the cerebellar tonsils through the foramen magnum. • Caudal displacement of the hindbrain through the foramen magnum. • Usually associated with Hydrocephalus . 05/21/18 21
  22. 22. Arnold Chiari Malformation • Hydrocephalus . • Cranial Nerve Palsies . • Visual Deficits . • Pressure from the enlarged ventricles affecting adjacent brain structures . • Cognitive and perceptual problems. • Motor dysfunction 05/21/18 22
  23. 23. Lipomeningocele • Lipomeningocele (lipo = fat) • lipoma or fatty tumor located over the lumbosacral spine. • Associated with bowel & bladder dysfunction Lipomeningocele 05/21/18 23
  24. 24. Anencephaly • Failure of development of most of the cranium and brain. • Infants are born without the main part of the forebrain-the largest part of the cerebrum. 05/21/18 24
  25. 25. Anencephaly • Anencephaly is the most common major CNS malformation in the Western world, • no neonates survive. • The recurrence rate in families can be as high as 35%. Pitkin RM etal(2007) 05/21/18 25
  26. 26. Anencephaly • The fetus usually blind, deaf and unconscious partially destroyed brain. • Symptoms • Mother- Polyhydramnios • fetus- absence of brain/skull 05/21/18 26
  27. 27. Encephalocele • Protrusion of brain and meninges through a midline Skull defect. • Often associated with cerebral malformation 05/21/18 27
  28. 28. Impairments associated with NTD • Abnormal eye movement • Pressure sore and skin irritations. • Bladder and bowel control problems • musculoskeletal deformities (scoliosis). • joint and extremity deformities Osteoporosis. 05/21/18 28
  29. 29. Approach to a patient with NTDS 05/21/18 29
  30. 30. History C/C : • Bulging on the back or other deformity . HPI :  Onset(at birth).  Size.  Course( progressive or constant)  Associated symptoms 05/21/18 30
  31. 31. History Past medical hx : • Previous medical problems. • Previous hospitalization. 05/21/18 31
  32. 32. History Pregnancy & neonatal hx : • Follow up during pregnancy or no. • Mother’s illness during pregnancy . • Mother’s medication during pregnancy (anti- convlsion) • Exposure of the mother to radiation. • Exposure to high temperatures early in pregnancy 05/21/18 32
  33. 33. History • Taking Folic acid in 1st trimester. • Gestational age • Type of delivery • Birth weight • Other Congenital anomalies • Admission to NICU 05/21/18 33
  34. 34. History Developmental hx: • According to age . Family & social hx : • Age of parents. • History of NTD in family . • History of diabetes of mother. 05/21/18 34
  35. 35. History • History of using anti-seizure for mother. • History of stillbirth or abortion • History of neonatal death in family. 05/21/18 35
  36. 36. Physical Examination General examination:  Child appearance  Vital signs.  Growth parameter ( HC imp) 05/21/18 36
  37. 37. Physical Examination Examination of the head & neck : • Anterior Fontanel : wide bulging • Separated suture . • Dilated scalp vein . • Seeing eye sign . • May be neck stiffness . • Examination of cranial nerve 05/21/18 37
  38. 38. Physical Examination Examination of the back: • Inspection for deformity , scar, bulging( size, content) • pressure sores and skin irritations • sensation . Examination of lower limps : • Inspection for deformity, muscle bulk . • Exam for tone and power (maybe paralysis) • Reflex and sensation • Gait . 05/21/18 38
  39. 39. Screening and Diagnosis Prenatal Tests • AFP(alpha fetoprotein ) • Ultrasound • Testing of Amniotic fluid  Evaluation • Analysis of individual medial history • Physical examination • Evaluation of critical body systems 05/21/18 39
  40. 40. Screening and Diagnosis Imaging Studies • X-rays • Ultrasound • CT scan • MRI  Gait Analysis 05/21/18 40
  41. 41. Management  Treatment  Prevention  Counseling  Education 05/21/18 41
  42. 42. Treatment(Rx) • Management varies according to the type and severity of NTDS. 05/21/18 42
  43. 43. Rx of mylomenigocele • Genetic counseling recommended. • severe defect is detected early in the pregnancy, a therapeutic abortion • After birth - surgery to repair the defect is usually recommended at an early age. • Before surgery, the infant must be handled carefully to reduce damage to the exposed spinal cord. 05/21/18 43
  44. 44. Rx of Hydrocephalus:  Children who also have hydrocephalus need a ventricular peritoneal shunt this will help drain the extra fluid.  Antibiotics used to treat or prevent infections such as meningitis or UTI 05/21/18 44
  45. 45. Rx of Menigocele  Prevent infection from developing through the tissue of the defect on the spine  To protect the exposed structures from additional trauma.  Most children are treated with surgery (within the first few days of life) 05/21/18 45
  46. 46. Rx of spina bifida occulta • Remove fat or fibrous tissues which are affecting the functioning of the spinal cord • Drain by syringes or cysts in the spinal canal to reduce pressure on the spinal cord and • Performed on the legs or feet to improve their functioning 05/21/18 46
  47. 47. General management  Physiotherapy to improve physical strength and coordination  supportive  Therapeutic strategies for improving mobility  Surgical care  Psychological strategies for personal and social adjustment  Medications 05/21/18 47
  48. 48. General management Medical strategies for improving bladder and bowel functioning : • Intermittent catheterization • Voiding and cleansing routines • Medications • Diet with adequate fiber and fluids • Possible surgical reconstruction (urinary) 05/21/18 48
  49. 49. Prevention • All women of childbearing age should receive 0.4 mg (400 micrograms) of folic acid daily prior to conception of planned or unplanned pregnancies and continue through 1st trimester • Women with a history of NTD and should receive daily supplementation of (4000 micrograms) of folic acid starting three months prior to conception and continuing through the 1st trimester. 05/21/18 49
  50. 50. Food rich in folate 05/21/18 50
  51. 51. Summery • NTD is Failure of normal fusion of the neural plate to form neural tube during the first 28 days following conception • Neural tube defects (NTDs) are among the most common birth defects that cause infant mortality (death) and serious disability. 05/21/18 51
  52. 52. Summery • Nutritional deficiencies. - notably, folic acid deficiency most common cause NTD • Two types of NTDs: • Open NTDs ( most common) : • closed NTDs (Rarer type ): 05/21/18 52
  53. 53. Summery Impairments associated with NTD • Abnormal eye movement • Pressure sore and skin irritations. • Bladder and bowel control problems • musculoskeletal deformities (scoliosis). • joint and extremity deformities Osteoporosis. 05/21/18 53
  54. 54. Summery • Prevention • folic acid 0.4 mg daily pre, 1 mg daily • Identify • Prenatal • birth • At birth Complications • Permanent disability 05/21/18 54
  55. 55. Reference 1. Dolk H, de Wals P, Gillerot Y, Lechat MF,Ayme S,Cornel M,CuschieriA,Garne E, Goujard J, Laurence KM, Heterogeneity of neural tube defects in Europe: The significance of site of defect and presence of other major anomalies in relation to geographic differences in prevalence. Teratology et al, 2000, 44:547–559. 2. K.K. Sulik, R.M. Zucker, D.B. Dehart, Normal patterns of neural tube closure differ in the human and mouse, Proc. Greenwood Genet. Cent. 18 ,2001,129– 130. 05/21/18 55
  56. 56. Reference 3 McInnes RR, Michaud JL. Developmental Biology: Frontiers for Clinical Genetics Clin Genet. 2007; 71: 295–310. 4 Figueiredo JC, Grau MV, Haile RW, et al. Folic Acid and Risk of Prostate Cancer: Results from a Randomized Clinical Trial. JNCI J Natl Cancer Inst. 2009; 101:432-5. 05/21/18 56
  57. 57. Reference 5 Hosako H, Francisco LE, Martin GS, Mirkes PE. The roles of p53 and p21 in normal development and hyperthermia- -induced malformations. Birth Defects Res B Dev Reprod Toxicol. 2009; 86:40-7. 6 Padmanabhan R. Etiology, pathogenesis and prevention of neural tube defects. Congenit Anom. 2006; 46:55-67. 7 Pitkin RM. Folate and neural tube defects Am J Clin Nutr 2007; 85(suppl): 285S– 8S. 05/21/18 57
  58. 58. Be Healthy and keep your Baby Healthy! 5805/21/18

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