MICRO-CEPHALY

What is microcephaly?
Microcephaly is a condition that is present at birth in which the baby’s head is much
smaller than normal for an infant of that age and gender. “Micro” means small and
cephaly refers to head. Most children with microcephaly also have a small brain and
mental retardation. However, some children with small heads have normal intelligence.

What causes microcephaly?

Microcephaly is either caused by exposure to harmful substance during the fetal
development, or it may be associated with genetic problems or syndromes that may have
a tendency to run in families.

Theories suggest that the following ay predispose a fetus to problems that affect the
normal development of the head during pregnancy:
• Exposure to hazardous chemicals/substance
• Exposure to retardation
• Lack of proper vitamins and nutrients in the diet
• Infection
• Prescription or illegal drug and alcohol consumption
• Maternal diabetes
Microcephaly can occur alone or in association with other health problems, and may
occur from inheritance of an auto-somal recessive, or rarely, an auto-somal dominant
gene. Acquired microcephaly may occur after birth due to various brains injuries such as
lack of oxygen or infection.

Auto-somal recessive and auto-somal dominant are to patterns in which genes are
inherited in a family. Genes determine out traits, such as eye color and blood type, and
can also cause disease. Auto-somal means that both males and females are equally
affected. Recessive means that two copies of the gene, one inherited from each parent,
are necessary to have the condition (in this case, microcephaly). After parents have had
one child with auto-somal recessive microcephaly, there is a 25 percent chance, or one in
four chances, with each pregnancy, to have another child with microcephaly.

What are symptoms of Microcephaly?

The following are the most common symptoms of microcephaly. However, each child
may experience symptoms differently. Symptoms may include:
• Appearance of the baby’s head is very small
• High-pitched cry
• Poor feeding
• Seizures
• Increased movement of the arms and legs (spasticity)
• Developmental delays
• Mental retardation

The symptoms of microcephaly may resemble other conditions or medical problems.

Always consult your child’s physician for a diagnosis.

How is microcephaly diagnosed?

Microcephaly may be diagnosed before the birth by prenatal ultrasound, a diagnostic
imaging technique which uses the high frequency sound waves and a computer to create
images of blood vessels, tissues, and organs. Ultrasounds are used to view the internal
organs as they function, and to assess the blood flow through various vessels.

In many cases, microcephaly may not be evident by ultrasound until the third trimester,
and therefore may not be seen on ultrasound preformed earlier in pregnancy. The
diagnosis of microcephaly may be made at birth or later in the infancy. The baby’s head
circumference is much smaller than normal. During the physical examination, the
physician obtains a complete prenatal and birth history of the child. In older babies and
children, the physician may also risk if there are a family history of the microcephaly or
others medical problems. The physician will also ask about developmental milestones
since microcephaly can be associated with other problems, such as mental retardation.
Developmental delays may require further medical follow up for underlying problems.

A measurement of the circumference of the child’s head is taken and compared to a scale
that can identify normal and abnormal ranges.

Diagnostic tests that may be performed to confirm the diagnosis of microcephaly and
identify abnormalities in the brain include:
• Head circumference – this measurement is compared with a scale for normal
growth and size
• X-ray – a diagnostic test which uses invisible electromagnetic energy beams to
produce images of internal tissues, bones, and organs onto film.
• Computed tomography scan (also called a CT or a CAT scan). – A diagnostic
imaging procedure that uses a combination of x-rays and computer technology to
produce cross-sectional images (often called slices), both horizontally and
vertically, of the body. A CT scan shows detailed images of any part of the body,
including bones, muscles, fat and organs. CT scan are more detailed than the x-
rays.
• Magnetic resonance imaging (MRI) – a diagnostic procedure that uses a
combination of large magnets, radiofrequencies, and a computer to produce
detailed images of organs and structures within the body.
• Blood tests
• Urine tests

Life-long considerations for a child with microcephaly:

There is no treatment for microcephaly that will return the baby’s head to a normal size
or shape. Since microcephaly is a life-long condition that is not correctable, management
includes focusing on preventing or minimizing deformities and maximizing the child’s
capabilities at home and in the community. Positive reinforcement will encourage the
child to strengthen his/her self-esteem and promote as much independence as possible.
The full extent of the problem is usually not completely understood immediately after
birth, but may be revealed as the child grows and develops.

Children born with microcephaly require frequent examination and diagnostic testing by
their physician to monitor the development of the head as the child grows. The medical
team work hard with the child’s family to provide education and guidance to improve the
health and well being of the child.

Genetic counseling may be recommended by the physician to provide information on the

recurrence risks for the disorder and any available testing.