SPINA BIFIDA

SPINA BIFIDA

Failure of fusion of the vertebral Failure of fusion of the vertebral arches. This mesodermal defect arches. This mesodermal defect may be associated with a defect of may be associated with a defect of ectoderm and neuroectoderm.ectoderm and neuroectoderm.

SPINA BIFIDA

First described by Nicholas Tulp -

1593

Morgagni linked Hydrocephalus with Spina Bifida -

1761

TYPES

1.1. Spina Bifida OccultaSpina Bifida Occulta20% of N. Child20% of N. Child

2.2. Spina Bifida CysticaSpina Bifida Cystica2.5 / 1,0002.5 / 1,000

MeningocoeleMeningocoele- Protrusion of Meninges- Protrusion of MeningesMyelomeningocoeleMyelomeningocoele- Protrusion of Meninges plus neural - Protrusion of Meninges plus neural tissuetissue

Spina Bifida Occulta

1.1. Midline defect of Vertebral Bodies.Midline defect of Vertebral Bodies.

2.2. Hair, Lipoma, dermal sinus, Hair, Lipoma, dermal sinus, discolouration of skin.discolouration of skin.

3.3. Occasionally associated with Occasionally associated with Diastematomyelia, Syringomyelia Diastematomyelia, Syringomyelia and Tethered Cord.and Tethered Cord.

Encephalocele

Cranial Meningocoele – Meningeal Cranial Meningocoele – Meningeal Sac onlySac only

Cranial Encephalocele – Sac plusCranial Encephalocele – Sac plus

Cerebral cortex, Cerebellum, Brain Cerebral cortex, Cerebellum, Brain StemStem

Anencephaly

Absent cerebral hemispheres and Absent cerebral hemispheres and cerebellumcerebellum

Incid.Incid. 1/1000 live births1/1000 live births

Neuronal Migration Disorder

Lissencephaly (Agyria)Lissencephaly (Agyria)

SchizencephalySchizencephaly

PorencephalyPorencephaly

Dandy Walker Malformation1.1. Cystic Expansion of 4Cystic Expansion of 4thth Ventricle Ventricle

in Post Fossa.in Post Fossa.

2.2. 90% have hydrocephalus.90% have hydrocephalus.

3.3. Shunting the cystic cavity.Shunting the cystic cavity.

Proposed Aetiologies for Spina Bifida Multi-factorial inheritance.Multi-factorial inheritance. Potato blight.Potato blight. Vitamin deficiencies/folate.Vitamin deficiencies/folate. Maternal fever.Maternal fever. Zinc deficiency.Zinc deficiency. High sound intensity.High sound intensity. Viral infection.Viral infection. Alcohol.Alcohol. Mineral deficiency.Mineral deficiency. Medication – Phenytoin, Epilim, etc.Medication – Phenytoin, Epilim, etc.

Spina Bifida

Incidence 2 – 2.5 / 1,000 birthsIncidence 2 – 2.5 / 1,000 births

Genetic PredispositionGenetic Predisposition

10% incidence of positive family histories10% incidence of positive family histories5% incidence of Spina Bifida / 5% incidence of Spina Bifida /

Encephalocele Encephalocele in sibling of an affected childin sibling of an affected child

10-15% incidence if two siblings affected10-15% incidence if two siblings affected

Adverse Criteria

1.1. Gross paralysis of the legs.Gross paralysis of the legs.

2.2. Thoraco-lumbar or Thoraco-lumbar or thoraco-l/sacral lesions.thoraco-l/sacral lesions.

3.3. Kyphosis or scoliosis.Kyphosis or scoliosis.

4.4. Hydrocephalus.Hydrocephalus.

5.5. Intracerebral birth injury.Intracerebral birth injury.

6.6. Other gross congenital anomalies.Other gross congenital anomalies.

Types of Lesions in Spina Bifida

Type I (1 / 3)Type I (1 / 3) Complete loss of spinal Complete loss of spinal cord cord function below a function below a certain certain segmental level. segmental level.

= ATONIC BLADDER= ATONIC BLADDER

Type II (2 / 3)Type II (2 / 3) Associated with Associated with interruption interruption of of corticospinal tract. corticospinal tract.

= SPASTIC BLADDER.= SPASTIC BLADDER.

Expectations of Lower Urinary Tracts

1.1. That bladder should fill to good That bladder should fill to good capacity.capacity.

2.2. Should empty to completion.Should empty to completion.

3.3. Emptying should be under Emptying should be under voluntary control.voluntary control.

4.4. That filling and emptying should That filling and emptying should not be detrimental to renal not be detrimental to renal function.function.

Failure to Fill Bladder

1.1. Rise in intravesical pressure = Rise in intravesical pressure = low low

compliance.compliance.2.2. Detrusor hyperreflexia.Detrusor hyperreflexia.3.3. Incompetence of bladder neck and Incompetence of bladder neck and

distal sphincter mechanism = distal sphincter mechanism = sphincter weakness sphincter weakness incontinenceincontinence

Failure to Empty Bladder

1.1. No Detrusor Contraction.No Detrusor Contraction.

2.2. Detrusor – Sphincter Dyssynergia.Detrusor – Sphincter Dyssynergia.

3.3. Failure of bladder neck to open Failure of bladder neck to open when the detrusor contracts.when the detrusor contracts.

Aims of Treatment

1.1. To preserve renal function.To preserve renal function.

2.2. To obtain efficient bladder To obtain efficient bladder emptying.emptying.

3.3. To achieve continence.To achieve continence.

Anocutaneous reflexAnocutaneous reflex == Contractile DetrusorContractile Detrusor

Anal Tone NormalAnal Tone Normal == No significant No significant sphincter weaknesssphincter weakness

Normal Perianal Normal Perianal Normal bladder and Normal bladder and SensationsSensations == urethral sensationsurethral sensations

If all above presentIf all above present == 25% who will have 25% who will have normal controlnormal control

Videourodynamic Study

Bladder outline, size and capacity.Bladder outline, size and capacity.

Detrusor pressure at rest and during filling Detrusor pressure at rest and during filling and voiding.and voiding.

State of bladder neck and urethra.State of bladder neck and urethra.

Presence or absence of vesico-ureteric Presence or absence of vesico-ureteric reflux.reflux.

Management of Urinary Incontinence

1.1. Manual expression of bladder.Manual expression of bladder.

2.2. Time training.Time training.

3.3. Indwelling catheterisation (silastic Indwelling catheterisation (silastic balloon catheter).balloon catheter).

4.4. Urinals – disposable penile sheaths.Urinals – disposable penile sheaths.

5.5. Pads and napkins.Pads and napkins.

6.6. Clean intermittent catheterisations.Clean intermittent catheterisations.

Investigations in Spina Bifida1.1. Regular urine checks q 1-3 / 12.Regular urine checks q 1-3 / 12.

2.2. Urea and creatinine q 6 / 12.Urea and creatinine q 6 / 12.

3.3. I.V.U.’S q 2 years.I.V.U.’S q 2 years.

4.4. Renal function tests and renogram.Renal function tests and renogram.

5.5. Measurement of residual urine.Measurement of residual urine.

6.6. Videourodynamic studies and Videourodynamic studies and micturating cysto-urethrogram.micturating cysto-urethrogram.

7.7. Renal ultrasound.Renal ultrasound.

Management of Bowel Incontinence

1.1. Bowel Training.Bowel Training.2 x 10 min periods/day2 x 10 min periods/day

2.2. Diet.Diet.

3.3. Physical Assistance.Physical Assistance.a)a) PressurePressure

b)b) Manual evacuationManual evacuationc)c) Suppositories Suppositories

Laxatives e.g. Isagel & SenokotLaxatives e.g. Isagel & Senokot

EnemasEnemas

Problems of Management of Spina Bifida

1.1. Shunt ComplicationsShunt Complications ::

Blocked shuntsBlocked shunts

Infected shuntsInfected shunts

Shunt nephritisShunt nephritis

Seizures 1 / 3Seizures 1 / 3

Upper limb Upper limb weaknessweakness

Problems of Management of Spina Bifida

2.2. Orthopaedic ManagementOrthopaedic Management ::

Hip dislocationHip dislocation

Knee flexion Knee flexion deformitiesdeformities

Foot deformitiesFoot deformities

Spinal deformitiesSpinal deformities

FracturesFractures

Problems of Management of Spina Bifida

3.3. Urinary problems.Urinary problems.

4.4. Intellectual Development.Intellectual Development.40-60% have learning disability40-60% have learning disability

5.5. Visual Defects.Visual Defects.

6.6. Endocrine dysfunction.Endocrine dysfunction.

Problems of Management of Spina Bifida

7.7. Obesity.Obesity.

8.8. Skin care.Skin care.

9.9. Psychological and psychosexual Psychological and psychosexual problems.problems.

10.10. School placement.School placement.

Arnold Chiari Malformation

Malformation of the lower Malformation of the lower brain stem and cerebellum brain stem and cerebellum and herniation of these and herniation of these structures through the structures through the foramen magnum.foramen magnum.

HYDROCEPHALUS11 Communicating - most common Communicating - most common

Congenital/AcquiredCongenital/Acquired

22 Non CommunicatingNon Communicating• Spina BifidaSpina Bifida• Aquaductal StenosisAquaductal Stenosis• Dandy-Walker malformation(cystic Dandy-Walker malformation(cystic

expansion of 4expansion of 4thth ventricle in Post Fossa ventricle in Post Fossa• TumoursTumours• Aneurysmal Dilation of Vain of GalenAneurysmal Dilation of Vain of Galen• Perinatal HaemorrhagePerinatal Haemorrhage

Folic Acid Supplements

400 Microgram folic acid daily400 Microgram folic acid daily

Continue for 1Continue for 1stst three months of three months of pregnancypregnancy