October 25th is World Spina Bifida and Hydrocephalus Day, below is some information on these two conditions.
Spina Bifida
What is it ? Spina bifida is one of the most common birth defects today;
Incidence of 1-2 cases per 100 births and is found more commonly in females.
Latin for ‘split spine’ – it is a congenital developmental disorder caused by incomplete closure of the embryonic neural tube. Some of the vertebrae enclosing the spinal cord do not fully develop, and remain unfused and open. If the opening is large enough, a portion of the spinal cord may protrude out (there may or may not be a fluid filled sac surrounding the cord). The most common site of the opening is on the lower back.
What are there different types of Spina Bifida ? This malformation is divided into 3 categories:
1) spina bifida occulta 2) meningocele and 3) myelomeningocele (the most severe form).
What Causes Spina Bifida ? Spina bifida is believed to be due to a combination of genetic and environmental factors – family history of the disease, a genetic basis, folic acid deficiency before and during pregnancy, poorly controlled diabetes, obesity, certain anticonvulsants (pregnant women on Valproic acid show increased incidence of giving birth to an affected child).
What does it look like ? Signs and symptoms of the disease include: paralysis, orthopaedic abnormalities (such as club foot), bladder and bowel problems (such as incontinence and Urinary Tract Infections (UTIs)), pressure sores and skin irritation, poor cognitive ability (often ADHD), and associated abnormalities of the cerebellum. Hydrocephalus is very commonly seen in individuals with the myelomeningocele variety.
Diagnosis can be made during pregnancy with a detailed ultrasound, testing the mother’s blood for alpha-feto-protein (MSAFP) & amniocentesis.
What can we do to prevent Spina Bifida ? As always the old adage remains: “Prevention is better than cure”. Dietary supplementation with folic acid has been shown to be helpful in reducing the incidence of this disease. Natural sources of folic acid can be found in fortified breakfast cereals, whole grains, fruit and leafy vegetables.
Treatment options: There is no cure for the nerve damage, and the only treatment is multiple surgeries after delivery. The affected individual however, will require lifelong catheterizations (and thus antibiotics preventing UTIs), braces, physical and speech therapy.
Hydrocephalus
What is it ? Derived from the Greek word, ‘Hydro’, meaning water, and ‘Cephalus’, meaning head.
It is a condition whereby there is excessive accumulation of cerebrospinal fluid (CSF) resulting in abnormal widening of the spaces of the brain (and thus increasing the pressure within the skull).
Incidence: 1-2 per 1000 newborns are affected.
What is caused by ?This condition maybe be congenital (including birth defects – neural tube defects, x-linked mutation, also seen in Dandy Walker Syndrome and in spina bifida), or one may acquire it (through a brain bleed sustained by head injury, blood clot in the cerebral vessels, meningitis, brain tumours).
What does it look like ? In babies, there is a rapid increase in head size. If acquired, symptoms include headaches, poor balance, visual impairment such as double vision, urinary incontinence, mental impairment, dizziness and seizures.
Treatment Options: Hydrocephalus is treated surgically, and the most common procedure is that of the placement of a shunt system in the brain to drain the excess fluid (CSF). Another surgical option is a procedure known as an ETV – Endoscopic Third Ventriculostomy.