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’நீங்கி� பி�றத்தல்அரி�து

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