NEURAL TUBE DEFECT
DR. R K SINHA
MBBS DCH
SENIOR REGISTRAR
DEPTT OF PEDIATRICS
PEERLESS HOSPITAL
KOLKATA
OVERVIEW- PART 1
• Incidence / Prevalence
• Chronic disease - Prevalence
• Wide Variation in Incidence
• BUT HUGE NUMBER FOR SURE
• Respect to Race /Geography / Nutrition
• The data is based on – LIVE BIRTHS
• Anencephaly --- Stillbirth
• Spina Bifida Occulta is likely to be under-reported.
• And general issues of under-reporting from third world countries
OVERVIEW- PART 2
• Morbidity
• Tertiary care
• Chronic Disease
• Disability – Physical and mental
• Socio-economic Implication
• Psychological Implication
• Mortality
• Anencephaly
• Other Than Anencephaly
OVERVIEW- PART 3
• PREVENTABLE
• Folic Acid – PERICONCEPTIONAL
• 8 out of 10 cases can be prevented with folic acid
• But even in developed country – timely and adequate folic accid
supplemented can be executed in 50 % cases.
The bulk of NTD cases are made up of:
• Cranial Neuropore defects – Anencephaly and Encephalocele
• Caudal Neuropre Defects --- Meningo / Myelocele
• The location of menigo/myelocele in decreasing order is : Thoracolumbar >
Lumbosacral > Cervical
AETIOLOGY
• MULTIFACTORIAL
• Genetic Predisposition – Mostly Related to Folate Metabolism
• Nutrition – folate deficiency
• Previous Offspring with NTD
• DM – specially Type1
• Obesity
• Hyperthermia ( ? sauna Bath )
• Drug – AEDs specially – Valproate
•
• Research – Zinc / Acrodermatitis Enteropathica.
• Vit B12 deficiency.
PRIMARY NEURALATION
• Closure of Neural Tube Occurs between 18 to 28 days
• ( just remember the LMP ! and First Antenatal Visit !)
• Neural tube Closure begins in the region of which represents cervical region .
• Like two zips – running in two opposite direction from one point only.
• One moves towards the Cranial Neuropore and the other moves towards –
Caudal Neuropore.
• The pores and cavity of the neural canal make up for the – deficit of
vasculature in that stage of embryonic life.
OPEN NTD/ DYSRAPHISM
• Persistence of Continuity between – Neural Ectoderm – and Cutaneous
Ectoderm gives rise to open NTDs / Dysraphism.
• If the defect occurs at
• Cranial neuropore--- It gives rise to – Anencephaly and Encephalocele
• Caudal Neuropore ----It Gives Rise To --- Meningo/myelocele
• Sometimes the entire neural tube is open ( zip completely gone haywire !!)
It is called –CRANIO-RACI-SCHISIS
ASSOCIATED CONGENITAL
DEFECTS
• CNS – like Arnold Chiari Malformation
• Possible mechanism – CSF leak giving rise to a coning like situation !
• Non-CNS anomalies
• THE GOLDEN RULE – IF YOU FIND ONE CONGENITAL ANOMALY SEARCH FOR
MORE
SPINA BIFIDA OCCULTA
• Vibhisan In The House Of Ram.
• Hardly creates any Hassles.
• As a tell – tale sign – may have tuft of hair in Lumbosacral region
SECONDARY NEURALATION
• Caudal to Caudal Neuropore mesenchymal condensation occurs to form a ROD that undergo
cavitation and secondary fusion with Primary Neural Tube.
• Secondary Neuralation by mechanism not so well known – forms – SacroCoccygeal region.
• A defect in this process gives rise to defects like
• Lipomenigomyelocele/ caudal agenesis/ neurenteric cyst/ diastematomyelia / dermal sinus.
•
• Some of these do not come to our mind when we talk of NTDs.
PRENATAL DIAGNOSIS
• TVS – first trimester
• Anomaly Scan – Second Trimester
• MS-AFP
• Amniocentesis
• TO BE OR NOT TO BE
• A famous Shakespearean Quote
• Issue Of MTP
• Issue Of Fetal Surgery – In Select Centres of World
NEUROSURGEON AND THE TEAM
• Repair Of NTD / Shunts/ Hydrocephalus / Arnold Chiari Malformation
• Team – Ped Surgeon / Urosurgeon/ Orthpaedic surgeon
• Physical Medicine Team
COMMUNICATION
• Be Factual .
• Be Reasonable.
• Be Sympathetic.
• BUT DO NOT FORGET TO KEEP RECORD OF COMMUNICATION.
• Medico-Legal Issues.
• ( just Imagine if prenatal USG missed it !)
MY SLOGAN FOR WOULD BE MOTHERS – EITHER CONTRACEPTION
OR FOLATE CONSUMPTION !
THANK YOU ALL!
