NEURAL TUBE DEFECTS MOJAHED ALAMRI NASER ALGAHTANI OMAR ALRUFAIDI GASSAN ALANAMER WHAT IS NEURAL TUBE DEFECT ? Failure of normal fusion of the neural plate to form neural tube during the first 28 days following conception .

Neural tube defects (NTDs) are one of the most common birth defects, occurring in approximately one in 1000 live births in the United States. Prevalence Increased incidence in families of Celtic and Irish heritage .

Increased incidence in minorities (genetic or environmental?) Increased incidence in families Neural tube defects (NTDs) are among the most common birth defects that cause infant mortality (death) and serious disability . NEURAL TUBE DEVELOPMENT Normal embryological

development Neural plate development 18th day Cranial closure 24th day (upper spine) Caudal closure 26th day (lower spine) ETIOLOGY OF NTDS

Combination of environmental and genetic causes . Teratogens : - Drugs -Rdiation Infection and maternal illnesses. Nutritional deficiencies . - notably, folic acid deficiency RISK FACTOR :

All pregnancies are at risk for an NTD. However, women with a history of a previous pregnancy with ( NTD). women with first degree relative with(NTD) women with type 1 diabetes mellitus women with seizure disorders on Na valproic acid.

women or their partners who themselves have an NTD. NTDS : Two types of NTDs: 1- Open NTDs ( most common) : - occur when the brain and/or spinal cord are exposed at birth through a defect in the skull or vertebrae.

Spina bifida Anencephaly Encephalocele 2- closed NTDs (Rarer type ): - occur when the spinal defect is covered by skin. lipomyelomeningocel lipomeningocele tethered spinal cord.

NEURAL TUBE DEFECTS What are the common Neural Tube Defects (NTDs) ? Spina Bifida - 60% Anencephaly - 30% Encephalocele - 10% WHAT IS SPINA BIFIDA? - A midline defect of the :

bone, skin, spinal column, &/or spinal cord. SPINA BIFIDA Spina Bifida is divided into two subclasses : 1 - Spina Bifida Occulta(closed ) : - mildest form ( meninges do not herniate through the opening in the spinal canal ) 2 -Spina Bifida Cystic ( open) :

- meningocele and myelomeningocele . SPINA BIFIDA SPINA BIFIDA OCCULTA Failure of fusion of the vertebral arch . The meninges do not herniate through the bony defect. This lesion is covered by skin. Symbtoms :

Difficulties controlling bowel or bladder . weakness and numbness in the feet recurrent ulceration . In Diastematomylia neurological deficits increase with growth. Signs :

Overlying skin lesion : tuft hair - lipoma - birth mark or small dermal sinus Usually in the lumbar region . SPINA BIFIDA OCCULTA Diagnosis: -indecently by Xray. - clinical. SPINA BIFIDA MANIFESTA

The 2 major types of defects seen here are myelomeningoceles and meningoceles. lumobosacral regions are the most common sites for these lesions . Cervical and thoracic regions are the least common sites. MYELOMENINGOCELE MYELOMENINGOCELE

The spinal cord and nerve roots herniate into a sac comprising the meninges. This sac protrudes through the bone and musculocutaneous defect. MYELOMENINGOCELE Certain neurologic anomalies such as : - hydrocephalus - Chiari II malformation

MYELOMENINGOCELE - myelomeningoceles have a higher incidence of associated : orthopedic anomalies of their lower extremities ( why). Intestinal malformations. Cardiac malformations. esophageal malformations. renal and urogenital anomalies. SYMPTOMS & SINGS :

- Variable paralysis of the legs. muscle imbalance . Sensory loss . bladder denervation ( neuropathic ) bowel denervation .

scoliosis . Arnold chiari malformation . Diagnosis : -Antenatal : - Elevated Alfa fetoprotein . -US (Polyhydramonis ) . At birth : - Clinical finding . ARNOLD CHIARI

MALFORMATION Herniation of the cerebellar tonsils through the foramen magnum . cerebellar hypoplasia . caudal displacement of the hindbrain through . the foramen magnum .

usually associated with Hydrocephalus . ARNOLD CHIARI MALFORMATION Hydrocephalus .

Cranial Nerve Palsies . Visual Deficits . Pressure from the enlarged ventricles affecting adjacent brain structures . Cognitive and perceptual problems. Motor dysfunction . MENINGOCELE simply herniation of the meninges through the bony defect (spina bifida). MENINGOCELE

Fluid-filled sac with meninges involved but neural tissue unaffected . The spinal cord and nerve roots do not herniate into this dorsal dural sac. The primary problems with this deformity are cosmetic MENINGOCELE

Neonates with a meningocele usually have normal findings upon physical examination and a covered (closed) dural sac. Neonates with meningocele do not have associated neurologic malformations such as hydrocephalus or Chiari II.

May complicted by CSF LIPOMENINGOCELE Lipomeningocele (lipo = fat) lipoma or fatty tumor located over the lumbosacral spine.

Associated with bowel & bladder dysfunction Lipomeningocele PROGNOSIS OF SPINA BIFIDA o o o

static non-progressive defect with worsening from secondary problems. - The prognosis for a normal life span is generally good for a child with good health habits and a supportive family/caregiver. IMPAIRMENTS ASSOCIATED WITH SPINA BIFIDA

Abnormal eye movement Pressure sore and skin irritations. Latex allergy. Bladder and bowel control problems musculoskeletal deformities (scoliosis). joint and extremity deformities (joint contractures, club foot, hip subluxations, diminished growth of non-weight bearing limbs) Osteoporosis.

tethered spinal cord after surgery . Treatment surgical Management Prenatal

Triple Screen( alpha fetoprotein ,hcg ,esraiol ) Ultrasound amniocentesis complex screening and life long

Spine Xrays and/or spinal ultrasound ANENCEPHALY Failure of development of most of the cranium and brain. Infants are born without the main part of the forebrain-the largest part of the cerebrum.

The fetus usually blind, deaf and unconscious . partially destroyed brain, deformed forehead, and large ears and eyes with often relatively normal lower facial structures. Both genetic and environmental insults appear to be responsible for this outcome.

The defect normally occurs after neural fold development at day 16 of gestation but before closure of the anterior neuropore at 24-26 days' gestation. ANENCEPHALY Anencephaly is the most common major CNS malformation in the Western world,

no neonates survive. It is seen 37 times more in females than in males. The recurrence rate in families can be as high as 35%. ANENCEPHALY Symptoms Mom- Polyhydramnios Baby- absence of brain/skull

Diagnosis Ultrasound Treatment None, incompatible with life Management Comfort

Measures Support Parents ENCEPHALOCELE Extrusion of brain and meninges through a midline Skull defect .

- Often associated with cerebral malformation DIAGNOSIS AND DETECTION Amniocentesis AFP - indication of abnormal leakage

Blood test Maternal blood samples of AFP Ultrasonography For locating back lesion vs. cranial signs ?HOW TO APPROACH

History C/C : Bulging on the back or other deformity . HPI : Onset(at birth). Size. Course( progressive or constant) Associated symptoms . Past medical hx : Previous medical problems . Previous hospitalization. Previous surgery or shunt . Pregnancy & neonatal hx : Follow up during pregnancy or no .

Mothers illness during pregnancy . Mothers medication during pregnancy (anticonvlsion) Exposure of the mother to radiation. Exposure to high temperatures early in pregnancy Taking Folic acid in 1st trimester. Gestational age Type of delivery Birth weight Other Congenital anomalies Apgar scores Admission to NICU Developmental hx: According to age .

Family & social hx : Age of parents. Consanguinity. History of NTD in family . History of diabetes of mother. History of using anti-seizure for mother. Obesity mother . History of stillbirth or abortion History of neonatal death in family. Physical Examination General examination: Child appearance Vital signs. Growth parameter ( HC imp)

Examination of the head & neck : Anterior Fontanel : wide bulging Separated suture . Dilated scalp vein . Setting sun eye sign . May be neck stiffness . Examination of cranial nerve . Examination of the back: Inspection for deformity , scar, bulging( size, content) pressure sores and skin irritations sensation . Examination of lower limps : Inspection for deformity, muscle bulk .

Exam for tone and power (maybe paralysis) Reflex and sensation , Gait . Remember : urinary and bowel sphincters (maybe affected) Management Management varies according to the type and severity of neural tube defect Treatment of mylomenigocele - Genetic counseling may be recommended. In some cases where severe defect is detected

early in the pregnancy, a therapeutic abortion may be considered After birth - surgery to repair the defect is usually recommended at an early age. Before surgery, the infant must be handled carefully to reduce damage to the exposed spinal cord. This may include special care and positioning, protective devices, and changes in the methods of handling, feeding, and bathing. Hydrocephalus: - Children who also have hydrocephalus may need a ventricular peritoneal shunt This will help drain the extra fluid - Antibiotics may be used to treat or

prevent infections such as meningitis or urinary tract infections Most children will require lifelong treatment for problems that result from damage to the spinal cord and spinal nerves. This includes : - Gentle downward pressure over the bladder may help drain the bladder. In severe cases, drainage tubes, called catheters, may be needed. Bowel training programs and a high fiber diet may improve bowel function - Orthopedic or physical therapy may be needed to treat musculoskeletal symptoms. Braces may be needed for muscle and joint problems - Neurological losses are treated according to the type

and severity of function loss - Follow-up examinations generally continue throughout the child's life. These are done to check the child's developmental level and to treat any intellectual, neurological, or physical problems Treatment of menigocele The key priorities in the treatment of meningocele are to prevent infection from developing through the tissue of the defect on the spine and to protect the exposed structures from additional

trauma. Most children with meningocele are treated with surgery (within the first few days of life) to close the defect and to prevent infection or further trauma Management of spina bifida occulta - can remove fat or fibrous tissues which are affecting the functioning of the spinal cord - can drain syrinxes or cysts in the spinal canal to reduce pressure on the spinal cord and - can be performed on the legs or feet to improve their functioning

General management - braces, supports and corrective casts physiotherapy to improve physical strength and coordination therapeutic strategies for improving mobility surgical care medical strategies for improving bladder and bowel functioning :

intermittent catheterization voiding and cleansing routines medications diet with adequate fiber and fluids possible surgical reconstruction (urinary) - psychological strategies for personal and social adjustment medications SUMMERY :

Prevention folic acid 0.4 mg daily pre, 1 mg daily preg Identify Prenatal At birth

Protect pre-op and post-op Skin integrity to prevent infection Special handling to reduce nerve damage Support Parental coping Pictures of similar defects corrected Genetic Counseling For future pregnancy In early pregnancy, therapeutic abortion Complications Permanent disability Education Symptoms of hydrocephalus Symptoms of meningitis Follow up for monitoring to assess neurologic damage

HOW CAN NTDS BE PREVENTED? All women of childbearing age should receive 0.4 mg (400 micrograms) of folic acid daily prior to conception of planned or unplanned pregnancies and continue thru 1st trimester Women with a history of NTD and should receive daily supplementation of (4000

micrograms) of folic acid starting three months prior to conception and continuing thru the 1st trimester THANK YOU

Recently Viewed Presentations

  • Safety Design Requirements for - ELC International Inc.(Loss ...

    Safety Design Requirements for - ELC International Inc.(Loss ...

    Definition. General Requirements. Safety Ventilation Requirement. Example of Safety Ventilation Calculation. ... The safety ventilation required for powder curing ovens shall be calculated by assuming that 9 percent of the mass of the powder is xylene and the remaining mass...
  • Unit 6 Urinary System - Mrs. Hoffert's Anatomy Class

    Unit 6 Urinary System - Mrs. Hoffert's Anatomy Class

    descends into medulla and ascends back into cortex via Nephron loop (Loop of Henle). coils into distal convoluted tubule - then collecting duct. By the time filtrate reaches the collecting duct, it is urine. ... Unit 6 Urinary System
  • First Session of the IOC Intergovernmental Co-ordination ...

    First Session of the IOC Intergovernmental Co-ordination ...

    TSUNAMI READY: MAYAGUEZ Bathymetric charts Tsunami Warning Focal Point (TWFP) and Tsunami National Contact (TNC) PTWC: draft communications plan for the Caribbean Mechanisms to integrate into the CTWS non earthquake sources of tsunami Communications alternatives OTHER ACTIVITIES DURING 2006/2007 Communications...
  • The Post 2005 Patent Regime and the Pharma-Biotech

    The Post 2005 Patent Regime and the Pharma-Biotech

    Patent opposed on the grounds that grant of a patent for plant life forms and the exploitation of the patent was contrary to morality and/or "ordre public" [Article 53(a) EPC], and the claims relating to plants and to processes for...
  • Spring 2016 Grades 5-8 and 11  Session I-

    Spring 2016 Grades 5-8 and 11 Session I-

    -Field Test of new item types. Session 3 is not optional. Spring 2016 Grades 3 and 4. Session I- MC-Legacy and CCR Standards. Session 2 - same. No Session 3. Field Testing- Selected response items matched to CCR will be...
  • Role of the Business Enterprise Consultant

    Role of the Business Enterprise Consultant

    Gross Profit. Abnormalfluctuations could mean issues with inventory control, pricing, or theft. Net Profit. Abnormal fluctuations could mean issues with labor costs, fixed expenses, or variable expenses . Purchases. Purchases should be reported accurately. Purchases should be proportionate to sales
  • WELDING/CUTTING 1926 Subpart J - Welding and Cutting

    WELDING/CUTTING 1926 Subpart J - Welding and Cutting

    1926 Subpart J - Authority for 1926 Subpart J 1926.350 Gas Welding and Cutting 1926.350 (a)(1) Valve protection caps shall be in place and secured. 1926.350 (a)(5) Valve protection caps shall not be used for lifting cylinders from one vertical...
  • Gestalt Psychology - RowenaT

    Gestalt Psychology - RowenaT

    Gestalt Principles Figure/ground Insight Field Theory Lewin's system using the concept of fields of force to explain behavior in term's of one's field of social influences. Life Space: All influences acting on a person at any given time Zeigarnik Effect...