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CNS – Neural Tube Defects and
      Craniosynostosis



                                   Dr. Kalpana Malla
                                       MD Pediatrics
                           Manipal Teaching Hospital

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CONGENITAL ANOMALIES

• NTD – Spina Bifida Occulta
        Meningocele
        Meningomyelocele
        Encephalocele
        Anencephaly
CONGENITAL ANOMALIES
• Defects of Neuronal Migration –
         Lissencephaly
         Porencephaly
         Schizencephaly
         Holoprosencephaly
• Craniosynostosis
• Agenesis of Corpus Callosum
• Microcephaly
• Hydrocephalus
DYSPLASIA


 Abnormal Organisation Of Cells In Tissue



                 MORPHOGENESIS
Poor Formation
Of Tissue From    Unusual Forces On   Breakdown Of
   Begining        Normal Tissue      Normal Tissue


 MALFORMATION      DEFORMATION         DISRUPTION
Neural tube defects

• Neural tube defect
        - Failure of closure of Neural tubes
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.
EMBRYOLOGY
  A single sheet of cells – midline ectoderm


 Ectodermal plate enlarges

Neural folds become elevated and fuse forming
              Neural tube

Fusion occurs in cervical region and proceed
both caudally and cephalic, by secondary
neuralization
 Cephalic completed by 23rd day
 Caudally completed by 28th day
 Thus neural tube formation completed by 4th
 week
                                        Nelson.
EMBRYOLOGY
TYPES OF NTD
                   PRIMARY
 -95% of all NTD
 Primary failure of closure/disruption of NT
 btw 18-28 days.

Eg. -Myelomeningocele
      Encephalocele
      Anencephaly
TYPES OF NTD
                   SECONDARY
 -5% of all NTD.
  Abnormal deve. of lower sacral seg. during
  secondary neuralisation
• Skin is usually intact
• Involves lumbo sacral region
Eg. Spina Bifida Occulta    Meningocele
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.
Meningocele




Sac + CSF + intact skin + No nervous
tissue + usually no hydrocephalus
-Small sac which increases on crying
- Usually no neurological abnormality
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
Meningomyelocele

Sac + CSF + neural element + discontinuous skin +
hydroce(80%).
 TYPE – 94% of all NTD - Lumbo sacral
- Area of well developed skin at periphery With
thin apex covered by glistening arachnoid
membrane
- Usually CSF oozing +
Meningomyelocele
• Check for reflexes, muscle power of LL. Check for
  SPHINTER and ANAL reflexes
TREATMENT:
• SURGERY
• MULTIDIS. APPROACH
• Look for other anomalies
• Treat hydroceph, Club foot
• Bladder and bowel care
LOBERS CRITERIA 1972 - FOR
       SELECTIVE SURGERY
SURGERY NOT DONE IF –
• Severe praplegia below L3 with bladder
  paralysis
• Gross Hydrocephalus
• ASSOCIATED LIFE THREATENING GROSS CONG.
  MALFORMATION.
LOBERS CRITERIA 1972 - FOR
        SELECTIVE SURGERY
SURGERY NOT DONE IF –
• Kyphosis
• Associated gross congenital anomalies
• Very large lesions
• Infection of sac ormeningitis
Myelomeningocele
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
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.
Diagnosis in pregnancy


Amniocentesis - to diagnose
chromosomal disorders and
open neural tube defects (ONTDs)
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
Neural tube defects – prevention

Folic acid deficiency:
If previous history of NTD in family :
4mg – 1 month before preg. To 3 months
   thereafter

Else for every other women of child bearing age :
0.4mg – 1 month before conception till 12 weeks
  gestation.
Defects of Neuronal Migration
• Lissencephaly – absence of cerebral
  convolution due to faulty
  neuroblast migration
• Porencephaly – cysts or cavities
  within the brain
Defects of Neuronal Migration
• Schizencephaly – uni or bilateral cleft
  within cerebral hemisphere
• Holoprosencephaly – defective
  cleavage of procencephalon – single
  ventricle,absent falx,fused basal
  ganglia
CRANIOSYNOSTOSIS


• Craniosynostosis – premature closing
  of sutures causing problems with
  normal brain and skull growth
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
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
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).
• 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
TYPES OF CRANIOSYNOSTOSIS
                     Primary
• Closure of sutures due to abnormality of skull
  development. Eg – genetics.
Secondary
• Occurs from failure of brain growth and
  expansion. Therefore causing premature
  fusion.
CLINICAL


• Palpation of suture reveals prominent bony
  ridge.
• Fusion may be confirmed by x-ray skull
• Associated syndromes – Crouzon , Alperts,
  Carpenter,
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.
• Usually good prognosis with non syndromic
  infants……………
Thank you
Download more documents and slide shows on The Medical Post
               [ www.themedicalpost.net ]

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Neural tube defects and Craniosynostosis

  • 1. CNS – Neural Tube Defects and Craniosynostosis Dr. Kalpana Malla MD Pediatrics Manipal Teaching Hospital Download more documents and slide shows on The Medical Post [ www.themedicalpost.net ]
  • 2. CONGENITAL ANOMALIES • NTD – Spina Bifida Occulta Meningocele Meningomyelocele Encephalocele Anencephaly
  • 3. CONGENITAL ANOMALIES • Defects of Neuronal Migration – Lissencephaly Porencephaly Schizencephaly Holoprosencephaly • Craniosynostosis • Agenesis of Corpus Callosum • Microcephaly • Hydrocephalus
  • 4. DYSPLASIA Abnormal Organisation Of Cells In Tissue MORPHOGENESIS Poor Formation Of Tissue From Unusual Forces On Breakdown Of Begining Normal Tissue Normal Tissue MALFORMATION DEFORMATION DISRUPTION
  • 5. Neural tube defects • Neural tube defect - Failure of closure of Neural tubes
  • 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. EMBRYOLOGY A single sheet of cells – midline ectoderm Ectodermal plate enlarges Neural folds become elevated and fuse forming Neural tube Fusion occurs in cervical region and proceed both caudally and cephalic, by secondary neuralization Cephalic completed by 23rd day Caudally completed by 28th day Thus neural tube formation completed by 4th week Nelson.
  • 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. TYPES OF NTD SECONDARY -5% of all NTD. Abnormal deve. of lower sacral seg. during secondary neuralisation • Skin is usually intact • Involves lumbo sacral region Eg. Spina Bifida Occulta Meningocele
  • 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.
  • 13. Meningocele Sac + CSF + intact skin + No nervous tissue + usually no hydrocephalus -Small sac which increases on crying - Usually no neurological abnormality
  • 14. 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
  • 15. Meningomyelocele Sac + CSF + neural element + discontinuous skin + hydroce(80%). TYPE – 94% of all NTD - Lumbo sacral - Area of well developed skin at periphery With thin apex covered by glistening arachnoid membrane - Usually CSF oozing +
  • 16. Meningomyelocele • Check for reflexes, muscle power of LL. Check for SPHINTER and ANAL reflexes TREATMENT: • SURGERY • MULTIDIS. APPROACH • Look for other anomalies • Treat hydroceph, Club foot • Bladder and bowel care
  • 17. LOBERS CRITERIA 1972 - FOR SELECTIVE SURGERY SURGERY NOT DONE IF – • Severe praplegia below L3 with bladder paralysis • Gross Hydrocephalus • ASSOCIATED LIFE THREATENING GROSS CONG. MALFORMATION.
  • 18. LOBERS CRITERIA 1972 - FOR SELECTIVE SURGERY SURGERY NOT DONE IF – • Kyphosis • Associated gross congenital anomalies • Very large lesions • Infection of sac ormeningitis
  • 20. 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
  • 21. 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.
  • 22. Diagnosis in pregnancy Amniocentesis - to diagnose chromosomal disorders and open neural tube defects (ONTDs)
  • 23. 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
  • 24. Neural tube defects – prevention Folic acid deficiency: If previous history of NTD in family : 4mg – 1 month before preg. To 3 months thereafter Else for every other women of child bearing age : 0.4mg – 1 month before conception till 12 weeks gestation.
  • 25. Defects of Neuronal Migration • Lissencephaly – absence of cerebral convolution due to faulty neuroblast migration • Porencephaly – cysts or cavities within the brain
  • 26. Defects of Neuronal Migration • Schizencephaly – uni or bilateral cleft within cerebral hemisphere • Holoprosencephaly – defective cleavage of procencephalon – single ventricle,absent falx,fused basal ganglia
  • 27. CRANIOSYNOSTOSIS • Craniosynostosis – premature closing of sutures causing problems with normal brain and skull growth
  • 28.
  • 29. 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
  • 30. 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
  • 31. 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).
  • 32. • 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
  • 33. TYPES OF CRANIOSYNOSTOSIS Primary • Closure of sutures due to abnormality of skull development. Eg – genetics.
  • 34. Secondary • Occurs from failure of brain growth and expansion. Therefore causing premature fusion.
  • 35. CLINICAL • Palpation of suture reveals prominent bony ridge. • Fusion may be confirmed by x-ray skull • Associated syndromes – Crouzon , Alperts, Carpenter,
  • 36. 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.
  • 37. • Usually good prognosis with non syndromic infants……………
  • 38. Thank you Download more documents and slide shows on The Medical Post [ www.themedicalpost.net ]