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NTD
Neural tube defects
• NT fail to close ~3-4w in utero due to
radiation, chemicals, drugs, DM, malnutrition,
hyperthermia
Development
• Ectoderm + mesoderm + endoderm = central
nervous system [3rd wk]
• Endoderm  notochord  IV disc
• Mesoderm  vertebrae, dura, brain?
• Ectoderm  neural plate, neural groove,
neural crest
• Neural crest  PNS, Cr nerve ganglia, myelin
sheath.
• Spina bifida occulta
• Meningocele
• Meningomyelocele
• Encephalocele
• Anencephaly
• Syringomyelia
• Tethered chord
• Low sacral region –
a) Bowel & Bladder incontinence
b) Anesthesia in perianal region
c) No motor impairment
• Mid lumbar region –
a) Flaccid paralysis of lower limbs
b) Absence of DTR
c) No response to pain , touch
• Cervical/thoracic
No deficit
Management
• Counseling
• UTI management
• Surgery
Lober’s criteria
• No surgery if
– Paraplegia
– Kyphoscoliosis
– Gross hydrocephalus
– Congenital anomaly
– IntraCranial birth injury
– ventriculitis
Anencephaly
Antenatal screening
• ~16wks
• AlfaFetoProtein
• Anticholinesterase
• USG
Neuronal migration disorders
• Radial glial fibre system
• Reelin, mdab1.
• Wide spectrum
Lissencephaly
Porencephaly
Holoprosencephaly
Schizencephaly
Neurocutaneous syndromes
• Problem in differentiation of primitive
ectoderm
• NF
• Tuberous sclerosis
• Sturge weber
• Von Hippel Lindau
• Ataxia telangiectasia
• Incontinentia pigmenti
Neurofibramatosis
• 1:4000, autosomal dominant
• Abnormal neural crest differentiation &
migration
2 of the 7 signs
• Cafeau-lait spots >5, >5mm,
• >2 Iris lisch nodules
• Optic glioma
• Axillary freckling
• >1 NF / plexiform NF,
• Scoliosis, sphenoid dysplasia
• Relative with NF1
Unidentified bright objects
Neurologic complications
• Areas of dysmyelination or focal areas of
increased water content (UBOs)
• Seizures, Hydrocephalus, macrocephaly
• TIA, FND, learning problems,
• precocious puberty, hypertension
• Pheochromocytoma, meningioma,glioma
• Scoliosis
s
NF2
• Bilateral acoustic neuromas
• Relative with NF2 or NF/glioma/meningioma
Shagreen patch
Tuberous sclerosis
• AD, 1:6000.
Features
• Infantile spasm
• Cognitive problems
• Rhabdomyoma heart
• Polycystic kidney disease
• Angiomyolipoma lung
Mulberry tumor
Tubers
Candle dripping appearance
Hypsarrhythmia
Management
• Seizure control
• Investigate other organic problems
• Manage ICT
Sturge weber syndrome
Features
• Portwine stain
• Contralateral focal clonic seizuures
• Contralateral hemiparesis, transient strokes
• Glaucoma eye
• MR
• Hemispherectomy
• Measure IOT
• Pulsed laser for portwine stain
• Anticonvulsants
Ataxia telangiectasia
Features
• ATAXIA
• Nystagmus
• Oculomotor apraxia
• Less elasticity
• More sinopulmonary infections
• IgA, IgG2 less
• Lymphomas
• Broken chromosomes
Thank you

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neural tube defects

Editor's Notes

  1. 3-4w, 3derm , neural grooveinvag, neurltube, epiderm separate, causes
  2. Rostral end 22, caudalend28, nt open amniotic cavity, afpachase, screen 16w,
  3. Just discolor
  4. Asso- tethered cord, syringomyelia.
  5. Hair,nevus,lipoma, sinus, rec meningitis,
  6. Translucent, asso tethered, lipoma, meningitis,hydrocep, anterior menino, bladder leak,
  7. 1/4000, 3-4%recur,folate, folate antagonists, lowsacral, midlumbar, chiari2-HC-hindbrain dysfunction,
  8. Parents, delay surgery,
  9. Catheter, prophylaxis, artificial sphincter, in utero closure.
  10. Contents? HC,dandy,chiari, translucent, xr,MR, blind,fit,
  11. Rostral pore fail to close, 1/1000,sceen- polyhydra, afp 14-16w. Asso-chd,cleft
  12. 100% mortal
  13. Radial glial fibre system, reelin, mousegene[mdab1], 6layer cortex, mr,fit
  14. Agyria, appear fetal brain, mc,ventriculomegaly, opticN hypoplasia, fits,ftt,mr, dd,4 layered cortex.
  15. Cyst/cavities, spastic quadri,blind, dd=hie.-no fluid
  16. Defective,cleavage, fused vent. Prenatal^* 10w, gdm. mortal, midfacialanamaly.
  17. Cleft in hemisphere, microgyria, severe disabled, unilat--hemiparesis
  18. asymptomatic- mc,paresis,,mr,fit, insult to commisural plate, pachygyria.
  19. Familial. abnormalities of both the integument and central nervous system
  20. 100% present,>15mm –postpubertal,
  21. Follobp,eye, scoliosis,cns assess
  22. Eye ex, screen parent, gene tracing.
  23. Hamartintuberin, affect skin,brainhtkidn,bone eye
  24. Woods lamp
  25. & phakoma,
  26. Subependymal calcify
  27. Nevus,fits,hemiparesis,ic-calcification
  28. anomalous development - primordial vascular bed - early stages of cerebral vascularization. leptomeninges are richly vascularized and the brain beneath becomes atrophic and calcified, particularly in the molecular layer of the cortex
  29. Occipital calci, rail road, ventriculomegaly,