Congenital abnormalities of the spinal cord

Dr Chamilka Jayasinghe

Definition

Spinal dysraphism or neural tube defect is a broad term encompassing a group of congenital spinal anomalies which result from defective closure of the neural tube in early foetal life.(1st four weeks of gestation)

Is the leading identified cause of infant death from congenital birth defects.

Clues as to an underlying spinal dysraphism

Dermal dimple Hairy patch of skin Lipoma dermal sinus Capillary haemangioma

Major neural tube defects

1. 2. 3. 4. 5. 6. 7. 8. 9. Spina bifida occulta Meningocele Myelomeningocele Encephalocele Anencephaly Dermal sinus Tethered cord Syringomyelia Diastematomyelia

Classification
1. Closed neural tube defects

e.g Spina bifida occulta 5-10% of general population Bony spina bifida occulta with intact overlying skin

2. Open neural tube defects

A serious congenital anomaly.if the neural tube fails to fuse At the skull anencephalus or encephalocele If the tube fails to fuse along the spinemeningomyelocele

Aetiology
Multifactorial inheritance-genetic & environmental factors The risk of an ONTD has been calculated as follows One previous child with ONTD 2% Two previous children with ONTD 5% Three previous children with ONTD 10% Sibling with ONTD 2%
CHROMOSOMAL ABNORMALITIES trisomy 13,18 TRIPLOIDY,SINGLE GENE MUTATIONS (10%) MATERNAL RISK FACTORS IDDM,hypothermia,inutero drug exposuretrimethoprim,valproate,carbamezapine,phenytoin,phenobarbitone and drugs to induce ovulation ,malnutrition,chemicals,genetic determinants

50% of NTD are related to a deficiency of folic acid

Spina bifida occulta Defect in the vertebral arches not associated with an externally visible sac Spina bifida cystica Vertebral defect associated with a cystic mass at the back Meningocele-without cord tissue within the sac Myelomeningocele spinal neural tissue forms part of sac

 Meningitis Arnold chiari malformations-cranial nerve dysfunction-occular muscle palsies, swallowing and eating difficulties and problems with phonation. Problems due to associated chromosomal defects Neurological complications: Paraplegia,functional bladder & bowel problems Seizures Neurogenic bladder and renal failure as a sequelae Musculoskeletal disease-progressive bony & joint deformities,pathological fractures & muscle atrophy Pes cavus ,kyphoscoliosis Complications following surgery-wound infection,CNS infection,acute hydrocephalus,low IQ Complications of shunt surgery- ICH/IVH,Bowel perforation and infection

complications Hydrocephalus

Clinical features
Occult NTD
SYMPTOMS AND SIGNS may appear as child grows as more tension is put on the tethered cord. INITIALLY pescavus, varus deformities,scoliosis LATER- neurological symptoms pain ,paraesthesia, numbness of toes and feet, sciatica like,unilateral pain. Bladder,bowel involvement Orthopaedic problems- progressive scoliosis,kyphosis,muscle weakness and gait disturbance evident by the time child begins to walk.

myelomeningocele
At birth-midline defect posteriorly with protrusion of meninges and cord elements through dural sac is seen. Paraplegia motor level, reflex level and anatomic level of lesion do not correspond. Thoracic (25%) no voluntary movement of lower limbs Neck and trunk variable involvement More severe CNS,cognitive involvement Lumbosacral (75%) High lumbar-hip extensor and abductor and all knee and ankle movements lost Low lumbar-hip abductors,knee flexors,ankle dorsiflexors affected Sacral-ankle plantar flexion affected ,anaesthesia in perineal area

Prenatal diagnosis
During the first or second trimester- triple screening of mother (amniocentesis during 16-18 wk POG) alpha feto protein elevated in 85% /acetylcholine esterase Prenatal sonography 99% of affected fetuses can be detected by combining these tests.

INVESTIGATIONS AFTER BIRTH

PLAIN X RAY USS MRI

To determine extent of neural tissue involvement

CT scan brain to exclude hydrocephalus

Prevention
Preconception folic acid o.4 mg/d Intrauterine repair of myelomeningocele- before development of significant hydrocephalus without changing the motor outcome.

interventions
Leaking NTD - surgery within 24-48 hours of birth Hydrocephalus-shunt surgery Orthopedic surgery- spinal stabilization, tenotomy,tendon release , osteotomy Neurogenic bladder-temporary vesicostomy, urinary diversion, clean intermittent catheterization

Multidisciplinary approach to care

Surgeons Physicians Therapists paediatrician

prognosis
Mortality following aggressive treatment-10-15% (most deaths before 4 years of age) 70% of survivors normal IQ Learning disorders and seizures more common than in general population