Spina bifida

Question 1

Epidemiology

Answer 1

1/1000 births - low socioeconomic status, slightly higher females

Question 2

Aetiology

Answer 2

multifactorial, involves genetic/racial/enviromental factors
FOLIC ACID intake is KEY

Risk factors = maternal obesity, hyperthermia, maternal diarrhoea

Question 3

Pathophysiology

Answer 3

Neural tube defect = the vertebral arch of the spinal column is either incompletely formed or absent. The defect can occur anywhere from the base of the skull to the sacrum. It is most commonly found in the lumbar region

Neurological symptoms and signs generally correspond to the level of the defect
17-30th day of gestation

common defects

ancephaly = results incomplete formation of brain and skull
myelomeningocele = failure of closure  of rostral end of tube

Question 4

Natural History

Answer 4

likely to result in death if unmanaged

Question 5

Clinical Manefestations

Answer 5

paralysis/sensory deficits below lesion

kyphosis/scoliosis

Question 6

Symptoms

Answer 6

swallowing difficult
intermittant apnea
impaired bladder function
hydronephrosis
uti
kidney damage
atrophy of legs
increase intra cranial pressure
rectal tone decreased

Question 7

signs

Answer 7

Examine the spine and note the site and size of any lesion. Look for any spinal deformity.

motor/sensory examination

Question 8

complications

Answer 8

Meningitis (especially in open neural tube defects).

Fractures (particularly of lower-limb long bones) and hip dislocations. These may be asymptomatic.

There may be disuse osteoporosis and osteopenia.

Pressure sores because of problems with mobility.

Skin ulceration around orthoses/braces.

Hydrocephalus due to Arnold-Chiari II malformation causing developmental impairment.

Neurogenic bladder = incontinence and urinary tract infection

Question 9

prognosis

Answer 9

long-term survival depends careful management of urinary complications to prevent chronic kidney disease.
Proper care = can manage

Long-term outlook is very variable and depends on the degree of neurological deficit.
higher lesions have worse prognosis

Loss of renal/ventricular control = death in older children. Half of deaths (after the age of 5 years) are sudden and unexpected. Most occur in the community and the most frequent causes are epilepsy, pulmonary embolus, acute hydrocephalus and acute renal sepsis.