1. ‘
’

2. NTD
Neural tube defects

3. • NT fail to close ~3-4w in utero due to
radiation, chemicals, drugs, DM, malnutrition,
hyperthermia

6. 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.

7. • Spina bifida occulta
• Meningocele
• Meningomyelocele
• Encephalocele
• Anencephaly
• Syringomyelia
• Tethered chord

15. • 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

16. Management
• Counseling
• UTI management
• Surgery

17. Lober’s criteria
• No surgery if
– Paraplegia
– Kyphoscoliosis
– Gross hydrocephalus
– Congenital anomaly
– IntraCranial birth injury
– ventriculitis

22. Anencephaly

23. Antenatal screening
• ~16wks
• AlfaFetoProtein
• Anticholinesterase
• USG

24. Neuronal migration disorders
• Radial glial fibre system
• Reelin, mdab1.
• Wide spectrum

25. Lissencephaly

26. Porencephaly

27. Holoprosencephaly

28. Schizencephaly

30. Neurocutaneous syndromes
• Problem in differentiation of primitive
ectoderm
• NF
• Tuberous sclerosis
• Sturge weber
• Von Hippel Lindau
• Ataxia telangiectasia
• Incontinentia pigmenti

31. Neurofibramatosis
• 1:4000, autosomal dominant

32. • Abnormal neural crest differentiation &
migration

33. 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

39. Unidentified bright objects

40. 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

41. s

42. NF2
• Bilateral acoustic neuromas
• Relative with NF2 or NF/glioma/meningioma

43. Shagreen patch

44. Tuberous sclerosis

45. • AD, 1:6000.

49. Features
• Infantile spasm
• Cognitive problems
• Rhabdomyoma heart
• Polycystic kidney disease
• Angiomyolipoma lung

50. Mulberry tumor

51. Tubers
Candle dripping appearance

52. Hypsarrhythmia

53. Management
• Seizure control
• Investigate other organic problems
• Manage ICT

55. Sturge weber syndrome

56. Features
• Portwine stain
• Contralateral focal clonic seizuures
• Contralateral hemiparesis, transient strokes
• Glaucoma eye
• MR

58. • Hemispherectomy
• Measure IOT
• Pulsed laser for portwine stain
• Anticonvulsants

60. Ataxia telangiectasia

61. Features
• ATAXIA
• Nystagmus
• Oculomotor apraxia
• Less elasticity
• More sinopulmonary infections
• IgA, IgG2 less
• Lymphomas
• Broken chromosomes

62. Thank you