Neural tube defects and Craniosynostosis

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Neural tube defects and Craniosynostosis

  1. 1. CNS – Neural Tube Defects and Craniosynostosis Dr. Kalpana Malla MD Pediatrics Manipal Teaching HospitalDownload more documents and slide shows on The Medical Post [ www.themedicalpost.net ]
  2. 2. CONGENITAL ANOMALIES• NTD – Spina Bifida Occulta Meningocele Meningomyelocele Encephalocele Anencephaly
  3. 3. CONGENITAL ANOMALIES• Defects of Neuronal Migration – Lissencephaly Porencephaly Schizencephaly Holoprosencephaly• Craniosynostosis• Agenesis of Corpus Callosum• Microcephaly• Hydrocephalus
  4. 4. DYSPLASIA Abnormal Organisation Of Cells In Tissue MORPHOGENESISPoor FormationOf Tissue From Unusual Forces On Breakdown Of Begining Normal Tissue Normal Tissue MALFORMATION DEFORMATION DISRUPTION
  5. 5. Neural tube defects• Neural tube defect - Failure of closure of Neural tubes
  6. 6. Neural tube defects - ETIOLOGY:Folic acid deficiency:Drugs antagonizing folic acid:Valproic acid, CBZ, phenytoin, phenoba., alcohol, thalidomide, irradiation, maternal diabetesSyndromal disorders: trisomy 18, 13,Malnutrition – zn , folate def.
  7. 7. EMBRYOLOGY A single sheet of cells – midline ectoderm Ectodermal plate enlargesNeural folds become elevated and fuse forming Neural tubeFusion occurs in cervical region and proceedboth caudally and cephalic, by secondaryneuralization Cephalic completed by 23rd day Caudally completed by 28th day Thus neural tube formation completed by 4th week Nelson.
  8. 8. EMBRYOLOGY
  9. 9. TYPES OF NTD PRIMARY -95% of all NTD Primary failure of closure/disruption of NT btw 18-28 days.Eg. -Myelomeningocele Encephalocele Anencephaly
  10. 10. TYPES OF NTD SECONDARY -5% of all NTD. Abnormal deve. of lower sacral seg. during secondary neuralisation• Skin is usually intact• Involves lumbo sacral regionEg. Spina Bifida Occulta Meningocele
  11. 11. Spina bifida occulta:• Midline defect of vertebral bodies without protrusion of spinal cord / meninges.• Asymptomatic , usually of no consequence• Presents as patch of hair, lipoma, dermal sinus in low back – underlying spinal malf.• Level - L5 & S1.• May be associated with tethered cord.• May present as recurrent meningitis – look for dermal sinus.
  12. 12. MeningoceleSac + CSF + intact skin + No nervoustissue + usually no hydrocephalus-Small sac which increases on crying- Usually no neurological abnormality
  13. 13. Meningocele• Inv.-• CT HEAD – r/o hydro• MRI SPINE – R/O (i)Diastematomyelia – division of spinal cord into two halves by projection of fibrocartilagenous or bony septum from post vertebral body(ii) Tethered cord – slender threadlike filum terminale attached to coccyx conus here is below L2 instead L 1• Treatment –• Skin intact – surgery in infancy• Skin lacerated – urgent treatment• Look for recto vaginal fistula
  14. 14. MeningomyeloceleSac + CSF + neural element + discontinuous skin +hydroce(80%). TYPE – 94% of all NTD - Lumbo sacral- Area of well developed skin at periphery Withthin apex covered by glistening arachnoidmembrane- Usually CSF oozing +
  15. 15. Meningomyelocele• Check for reflexes, muscle power of LL. Check for SPHINTER and ANAL reflexesTREATMENT:• SURGERY• MULTIDIS. APPROACH• Look for other anomalies• Treat hydroceph, Club foot• Bladder and bowel care
  16. 16. LOBERS CRITERIA 1972 - FOR SELECTIVE SURGERYSURGERY NOT DONE IF –• Severe praplegia below L3 with bladder paralysis• Gross Hydrocephalus• ASSOCIATED LIFE THREATENING GROSS CONG. MALFORMATION.
  17. 17. LOBERS CRITERIA 1972 - FOR SELECTIVE SURGERYSURGERY NOT DONE IF –• Kyphosis• Associated gross congenital anomalies• Very large lesions• Infection of sac ormeningitis
  18. 18. Myelomeningocele
  19. 19. ANENCEPHALY• Failure of closure of rostral neuropore.• Large defect of calvarium, meninges, scalp associated with rudimentary brain.• Cerebral hemisphere and cerebellum usually absent• Associated anomalies-• In pregnancy – polyhydroamnios• Die at birth or few days• Etiology – genetic, environmental toxins, nutrition
  20. 20. ENCEPHALOCELE• Contains sac + cerebral cortex + cerebellum + brain stem• – OCCIPITAL region, Can also occur in frontal or nasofrontal• ↑ risk of arnold chiari or dandy walker malformation• ↑ risk of hydroceph.• Visual problems, microcephaly, mental retardation, seizures associated features.
  21. 21. Diagnosis in pregnancyAmniocentesis - to diagnosechromosomal disorders andopen neural tube defects (ONTDs)
  22. 22. Alpha-fetoprotein screening• Measures the level of AFP in mothers blood during pregnancy.• Abnormal levels of AFP -Open neural tube defects (ONTD)Down syndromeOther chromosomal abnormalitiesDefects in the abdominal wall of the fetusTwins - more than one fetus is making the protein
  23. 23. Neural tube defects – preventionFolic acid deficiency:If previous history of NTD in family :4mg – 1 month before preg. To 3 months thereafterElse for every other women of child bearing age :0.4mg – 1 month before conception till 12 weeks gestation.
  24. 24. Defects of Neuronal Migration• Lissencephaly – absence of cerebral convolution due to faulty neuroblast migration• Porencephaly – cysts or cavities within the brain
  25. 25. Defects of Neuronal Migration• Schizencephaly – uni or bilateral cleft within cerebral hemisphere• Holoprosencephaly – defective cleavage of procencephalon – single ventricle,absent falx,fused basal ganglia
  26. 26. CRANIOSYNOSTOSIS• Craniosynostosis – premature closing of sutures causing problems with normal brain and skull growth
  27. 27. Plagiocephaly - coronal synostosis - Fusion of either rt or lt side of the coronal suture -Causes the normal forehead and the brow to stop growing -Produces flattening of the forehead and the brow on the affected side, with the forehead tending to be excessively prominent on the opposite side
  28. 28. SCAPHOCEPHALY/DOLICHOCEPHALY Early closure or fusion of the sagittal suture Fusion causes a long, narrow skull .Prominent occiput and forehead Usually only craniosynstosis which is relatively harmless
  29. 29. TRIGONOCEPHALY Fusion of the metopic (forehead) suture Fusion result in a prominent ridge running down the forehead -looks pointed, like a triangle, with closely placed eyes (hypotelorism).
  30. 30. • Turriencephaly – cone shaped head . Fusion of coronal and speno frontal or fronto ethmoid sutures.• Brachycephaly – premature closure of coronal suture expands skull parallel to coronal suture , thus broadening of forehead with short AP diameter. Eg – in many syndromes like Downs
  31. 31. TYPES OF CRANIOSYNOSTOSIS Primary• Closure of sutures due to abnormality of skull development. Eg – genetics.
  32. 32. Secondary• Occurs from failure of brain growth and expansion. Therefore causing premature fusion.
  33. 33. CLINICAL• Palpation of suture reveals prominent bony ridge.• Fusion may be confirmed by x-ray skull• Associated syndromes – Crouzon , Alperts, Carpenter,
  34. 34. TREATMENT• Premature fusion of single suture rarely causes any neurological deficit . Thus, in this situation the only indication is cosmetics.• 2 or more suture fusion – more complications eg. ↑ ICT, hydrocephalus, optic atrophy, DNS, choanal atresia --- operative surgery essential – craniectomy with craniofacial correction.
  35. 35. • Usually good prognosis with non syndromic infants……………
  36. 36. Thank youDownload more documents and slide shows on The Medical Post [ www.themedicalpost.net ]

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