Intraventricular Hemorrhage in Babies

Intraventricular hemorrhage (IVH) is bleeding inside or around the ventricles in the brain. The ventricles are the spaces in the brain that contain the cerebral spinal fluid. Bleeding in the brain can put pressure on the nerve cells and damage them. Severe damage to cells can lead to brain injury.

IVH is most common in premature babies. There are 4 grades of IVH, depending on the amount of bleeding. They are:

  • Grade
    1.
    Bleeding occurs just in a small area of the ventricles.
  • Grade
    2.
    Bleeding also occurs inside the ventricles.
  • Grade
    3.
    Ventricles are enlarged by the blood.
  • Grade
    4.
    Bleeding occurs in the brain tissues around the ventricles.

Grades 1 and 2 are most common. Often the baby has no other complications. Grades 3 and 4 are the most serious. They may result in long-term brain injury to the baby.

It is not clear why IVH occurs. Bleeding can occur because blood vessels in a premature baby’s brain are very fragile and break easily. Nearly all IVH occurs within the first few days of life.

Certain babies are more likely to have IVH. They include:

  • Premature babies
  • Very-low-birth-weight babies (weighing
    less than 3 pounds, 5 ounces)
  • Babies with breathing problems, such
    as hyaline membrane disease
  • Babies who have other complications of
    being premature
  • Labor and delivery problems
  • Genetic background
  • Shaken baby
  • Head Injury
  • Infection in the mother
  • High blood pressure in the mother
  • Blood-clotting problems

The following are the most common symptoms of IVH:

  • Pauses in breathing (apnea)
  • Slow heart rate (bradycardia)
  • Pale or blue coloring (cyanosis)
  • Weak suck
  • High-pitched cry
  • Seizures
  • Lethargy, stupor, or coma
  • Swelling or bulging of the soft spots
    (fontanelles) between the bones of the baby’s head
  • Low red blood cell count (anemia)
  • Decreased reflexes
  • Decreased muscle tone
  • Abnormal eye movement

The symptoms of IVH may look like other health problems. Make sure your baby sees his or her healthcare provider for a diagnosis.

Your baby’s healthcare provider will ask about your child’s health history and do a physical exam. Your baby will also need a head ultrasound. This test uses sound waves to make a picture of internal structures. The provider can see the inside of the baby’s brain through the fontanelles. With the ultrasound, the amount of bleeding can be graded.

There is no specific treatment for IVH, except to treat any other health problems that may make the condition worse. Your baby may also need supportive care, such as fluids and oxygen.

Sometimes your baby may need surgery to stabilize his or her condition. This may involve surgery to place a tube (shunt) into the baby’s skull to drain the fluid. But this surgery is rarely needed in babies because their skulls are very flexible.

Complications are more likely to occur if a baby has grade 3 or 4 IVH. They may include:

  • Development problems
  • Too much cerebral spinal fluid in the brain (hydrocephalus)
  • Long-term brain injury
  • Death

Although care of sick and premature babies has advanced greatly, it is not possible to prevent IVH from occurring. But if you are at risk for early delivery, your healthcare provider may give you corticosteroid medicines. This has been shown to lower the risk for IVH in the baby. These steroids are often given to women between 24 and 34 weeks during pregnancy if they are at risk for early delivery.

  • IVH is bleeding inside or around the ventricles. The ventricles are the spaces in the brain that contain the cerebral spinal fluid.
  • IVH is most likely to occur in premature babies.
  • It is not clear why IVH occurs.
  • A baby with IVH may have breathing problems and a slow heart rate.
  • A head ultrasound can diagnose the condition.
  • There is no specific treatment for IVH.

Tips to help you get the most from a visit to your child’s healthcare provider:

  • Know the reason for the visit and what you want to happen.
  • Before your visit, write down questions you want answered.
  • At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.
  • Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.
  • Ask if your child’s condition can be treated in other ways.
  • Know why a test or procedure is recommended and what the results could mean.
  • Know what to expect if your child does not take the medicine or have the test or procedure.
  • If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.

Periventricular Leukomalacia (PVL) in Children

Periventricular leukomalacia (PVL) is a softening of white brain tissue near the ventricles. The ventricles are fluid-filled chambers in the brain. These are the spaces in the brain that contain the cerebrospinal fluid (CSF). The white matter is the inner part of the brain. It sends information between the nerve cells and the spinal cord, and from one part of the brain to another.

PVL occurs because brain tissue has
been injured or has died. A lack of blood flow to the brain tissue before, during, or
after birth causes PVL. It is rarely possible to tell when or why this happens. PVL is
sometimes linked to bleeding inside the brain (intraventricular hemorrhage). PVL can
occur in babies who are born early (preterm or premature).

With PVL, the area of damaged brain
tissue can affect the nerve cells that control motor movements. As the baby grows, the
damaged nerve cells cause the muscles to become tight or shaky (spastic) and hard to
move. Babies with PVL have a higher risk for cerebral palsy. This is a disorder that
causes problems with muscle control. A child with PVL may also have thinking or learning
problems.

It is not clear why PVL occurs.
This area of the brain is very vulnerable to injury, especially in preterm babies whose
brain tissues are more fragile. PVL may happen when the brain gets too little blood or
oxygen. But it is not clear when PVL occurs. It may occur before, during, or after
birth. Most babies who develop PVL are preterm, especially those born before 30 weeks.
Other things linked with PVL include early bursting or rupture of membranes (amniotic
sac) and infection in the uterus.

PVL can happen in any baby. But the risk is higher in babies who are born preterm. Smaller, younger preterm babies are at higher risk.

In some mild cases, the condition causes no symptoms. PVL may not be apparent until months after birth. Symptoms can occur a bit differently in each baby. The most common symptom of PVL is spastic diplegia. This is a form of cerebral palsy that causes tight, contracted muscles, especially in the legs.

The symptoms of PVL can be like other health conditions. Make sure your child sees his or her healthcare provider for a diagnosis.

The healthcare provider will ask about your child’s symptoms and health history. He or she will give your child a physical exam. Your child may also have tests, such as:

  • Cranial ultrasound. This is a
    painless test that uses sound waves to make images of the tissues in the body. This
    test is used to view the baby’s brain through the soft openings between the skull
    bones (the fontanelles). In a baby with PVL, the ultrasound shows cysts or hollow
    places in the brain tissue. Sometimes the condition can’t be seen with an ultrasound
    right away. So healthcare providers give babies at risk for PVL an ultrasound 4 to 8
    weeks after birth.
  • MRI. This test uses large magnets, radio waves, and a computer to make images of the inside of the body. MRI may show some of the early changes in the brain tissue that occur with PVL.

There is no treatment to cure PVL. Babies at risk for PVL may need special care after discharge from the hospital. Follow-up may include physical therapy, occupational therapy, and speech therapy.

PVL may lead to problems with physical or mental development. The severity of these problems varies. In these cases, the baby still needs to be checked from time to time for signs of problems. In the most severe cases, PVL can cause cerebral palsy or other serious physical and mental delays. Only time can tell how severe a child’s disability will be.

If your child is diagnosed with PVL, he or she should be checked regularly by a developmental specialist. This can help detect problems early so you and your child can get help early.

Call the healthcare provider if your child has:

  • Symptoms that don’t get better, or get worse
  • New symptoms
  • Periventricular leukomalacia (PVL) is a softening of white brain tissue near the ventricles. The white matter is the inner part of the brain. It sends information between the nerve cells and the spinal cord, and from one part of the brain to another.
  • A lack of blood flow to the brain tissue before, during, or after birth causes PVL.
  • PVL can happen in any baby. But the risk is higher in babies who are born preterm.
  • Babies with PVL have a higher risk for cerebral palsy. A child with PVL may also have thinking or learning problems. In some mild cases, the condition causes no symptoms.
  • There is no treatment to cure PVL. Babies at risk for PVL may need special care after discharge from the hospital. Follow-up may include physical therapy, occupational therapy, and speech therapy.

Tips to help you get the most from a visit to your child’s healthcare provider:

  • Know the reason for the visit and what you want to happen.
  • Before your visit, write down questions you want answered.
  • At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.
  • Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.
  • Ask if your child’s condition can be treated in other ways.
  • Know why a test or procedure is recommended and what the results could mean.
  • Know what to expect if your child does not take the medicine or have the test or procedure.
  • If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.

Thrush (Oral Candida Infection) in Children

Thrush is a mouth infection that is
common in babies and children. Symptoms include white or yellow velvety patches in the
mouth. Thrush is caused by a type of fungus called Candida. Candida is found naturally
on the skin and in the mouth. But if Candida grows out of control, it can cause thrush.

Thrush is not a serious problem for a healthy child. It can be treated with antifungal medicine.

Candida yeast is common in the everyday environment. It only causes a problem when it grows out of control. This can happen if a child:

  • Has taken antibiotics
  • Uses inhaled corticosteroids, such as for asthma
  • Uses a pacifier often
  • Has a weak immune system

A child is more at risk for thrush if he or she:

  • Had a very low birth weight
  • Passed through the birth canal of a mother with a yeast infection
  • Has taken antibiotics
  • Uses inhaled corticosteroids, such as for asthma
  • Uses a pacifier often
  • Has a weak immune system

Thrush causes milky white or yellow patches to form on the tongue or inner cheeks. These patches can be painful and may bleed. Some babies have no pain from thrush. Others may have pain and be fussy and refuse to feed. It may hurt when your child swallows. Thrush can also cause cracked skin in the corners of the mouth. Symptoms can occur a bit differently in each child.

The symptoms of thrush can be like other health conditions. Make sure your child sees his or her healthcare provider for a diagnosis.

The healthcare provider will ask about your child’s symptoms and health history. He or she will give your child a physical exam. This will include looking in your child’s mouth.

Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is.                                         

A healthy baby with mild thrush may not need any treatment. More severe cases are likely to be treated with a liquid antifungal medicine. This is given through a dropper into your child’s mouth. Or the medicine may be given as pills in an older child. Follow the healthcare provider’s instructions for giving this medicine to your child.

Breastfeeding mothers may develop thrush on their nipples. If you breastfeed, both you and your child will be treated. This is to prevent passing the infection back and forth. You may be given an ointment to apply to your skin, or an oral antifungal medicine.

Talk with your child’s healthcare providers about the risks, benefits, and possible side effects of all medicines.

It’s also important to boil
(sterilize) disinfect any pacifiers, bottle nipples, or
toys that your child may put in his or her mouth after each use. This will prevent your
child from being infected again.                                                        

To care for your child at home:

  • Wash your hands well with warm water and soap before and after caring for your child. Have your child wash his or her hands often.
  • If your child uses a nipple or a pacifier, boil it for 5 to 10 minutes after each use.
  • Wash drinking cups using warm water and soap after each use.

If your child takes inhaled corticosteroids, have your child rinse their mouth after taking the medicine. Also ask the healthcare provider about using a spacer on the inhaler. This can help lessen the risk for thrush.

Call the healthcare provider if your child:

  • Has symptoms that don’t get better, or get worse
  • Has new symptoms
  • Stops eating or drinking

Get medical care right away if your child is 3 months old or younger and has a fever of 100.4°F (38°C) or higher. Fever in a young baby can be a sign of a dangerous infection.

  • Thrush is a common mouth infection in babies and children. It’s not a serious problem for a healthy child. It can be treated with antifungal medicine.
  • Thrush is caused by a type of fungus called Candida. Candida is found naturally on the skin and in the mouth. But if Candida grows out of control, it can cause thrush.
  • Thrush causes milky white or yellow patches to form on the tongue or inner cheeks. These patches can be painful and may bleed. Some babies have no pain from thrush. Others may have pain and be fussy and refuse to feed. It may hurt when your child swallows.
  • A healthy baby with mild thrush may not need any treatment. More severe cases are likely to be treated with a liquid antifungal medicine.
  • Breastfeeding mothers may develop thrush on their nipples. If you breastfeed, both you and your child will be treated.
  • It’s also important to boil
    (sterilize) any pacifiers, bottle nipples, or toys that your child may put in his or
    her mouth after each use.

Tips to help you get the most from a visit to your child’s healthcare provider:

  • Know the reason for the visit and what you want to happen.
  • Before your visit, write down questions you want answered.
  • At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.
  • Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.
  • Ask if your child’s condition can be treated in other ways.
  • Know why a test or procedure is recommended and what the results could mean.
  • Know what to expect if your child does not take the medicine or have the test or procedure.
  • If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.

Respiratory Syncytial Virus (RSV) in Children

RSVis
a viral illness that causes symptoms such as trouble breathing. It’s
the most common cause of inflammation of the small airways in the lungs (bronchiolitis)
and pneumonia in babies.

RSV is spread when a child comes into contact with fluid from an
infected person’s nose or mouth. This can happen if a child touches a contaminated
surface and touches his or her eyes, mouth, or nose. It may also happen when inhaling
droplets from an infected person’s sneeze or cough.

A child is more at risk for RSV if
he or she is around other people with the virus. RSV often occurs in yearly outbreaks in
communities, classrooms, and childcare centers. RSV is more common in winter and early
spring months.

RSV can affect a person of any
age but causes the
most problems for the very young and very old. Most babies have been
infected at least once by the time they are 2 years old. Babies can also be reinfected
with the virus. Infection can happen again anytime throughout life. RSV infection in
older children and adults may seem like an episode of severe asthma. Babies born
prematurely or with heart, lung, or immune system diseases are at increased risk for
more severe illness.

Symptoms start about 2 to 5 days
after contact with the virus.

The early phase of RSV in babies
and young children is often mild, like a cold. In children younger than age 3, the
illness may move into the lungs and cause coughing and wheezing. In some children, the
infection turns to a severe respiratory disease. Your child may need to be treated in
the hospital to help with breathing.

The most common symptoms of RSV
include:

  • Runny nose
  • Fever  
  • Cough
  • Short periods without breathing
    (apnea)
  • Trouble eating, drinking, or
    swallowing
  • Wheezing
  • Flaring of the nostrils or straining
    of the chest or stomach while breathing
  • Breathing faster than usual, or
    trouble breathing
  • Turning blue around the lips and
    fingertips 

The symptoms of RSV can
seem
like other health conditions. Make sure your child sees his or her healthcare provider
for a diagnosis.

The healthcare provider will ask about your child’s symptoms and
health history. He or she may also ask about any recent illness in your family or other
children in childcare or school. He or she will give your child a physical exam. Your
child may also have tests, such as a nasal swab or wash. This is a painless test to look
for the virus in fluid from the nose.

Treatment will depend on your
child’s symptoms, age, and general health. It will also depend on how severe the
condition is.

Antibiotics are not used to treat
RSV. Treatment for RSV is done to help ease symptoms. Treatment may include:

  • More fluids. It’s very important to
    make sure your child drinks plenty of fluids. If needed, your child will get an
    intravenous (IV) line to give fluids and electrolytes.
  • Oxygen. This
    is extra oxygen given through a mask, nasal prongs, or an oxygen tent.
  • Suctioning of mucus.  A thin tube is
    put into the lungs to remove extra mucus.
  • Bronchodilator medicines. These may
    be used to open your child’s airways. They are often given in an aerosol mist by a
    mask or through an inhaler.
  • Tube feeding. This may be done if a
    baby has trouble sucking. A thin tube is put through the baby’s nose and down into
    the stomach. Liquid nutrition is sent through the tube.
  • Mechanical ventilation. A child who
    is very ill may need to be put on a breathing machine (ventilator) to help with
    breathing.
  • Antivirals. Some children with severe infections
    may
    need
    treatment with an antiviral
    medicines.

Talk with your child’s healthcare
providers about the risks, benefits, and possible side effects of all treatments.

In high-risk babies, RSV can lead to severe breathing illness and
pneumonia. This may become life-threatening. RSV as a baby may be linked to asthma later
in childhood.

The American Academy of Pediatrics
(AAP) recommends that babies at high risk for RSV get a medicine called palivizumab. Ask
your child’s healthcare provider if your child is at high risk for RSV. If so, ask about
monthly injections during RSV season to help prevent infection.

To reduce the risk for RSV, the AAP
recommends all babies, especially preterm infants:

  • Be breastfed
  • Be protected from contact with
    smoke
  • Not go to childcare with lots of
    children during their first winter season
  • Not have contact with sick people

Also make sure that household
members wash their hands or use an alcohol-based hand cleaner before and after touching
a baby with RSV.

When should I call my child’s healthcare provider?

Call the healthcare provider if your child has:

  • Symptoms that don’t get better, or get worse
  • New symptoms

  • RSV is a viral illness that causes
    trouble breathing. It is more common in winter and early spring months.
  • Most babies have been infected at
    least once by the time they are 2 years old. Babies can also be re-infected with the
    virus. Infection can happen again anytime throughout life.
  • Treatment for RSV may include extra
    oxygen. This is extra oxygen given through a mask, nasal prongs, or an oxygen tent. A
    child who is very ill may need to be put on a breathing machine (ventilator) to help
    with breathing
  • In high-risk babies, RSV can lead to
    severe respiratory illness and pneumonia. This may become life-threatening. RSV as a
    baby may be linked to asthma later in childhood.
  • Babies at high risk for RSV receive a
    medicine called palivizumab. Ask your child’s healthcare provider if your child is at
    high risk for RSV.

Tips to help you get the most from
a visit to your child’s healthcare provider:

  • Know the reason for the visit and what
    you want to happen.
  • Before your visit, write down
    questions you want answered.
  • At the visit, write down the name of a
    new diagnosis, and any new medicines, treatments, or tests. Also write down any new
    instructions your provider gives you for your child.
  • Know why a new medicine or treatment
    is prescribed and how it will help your child. Also know what the side effects
    are.
  • Ask if your child’s condition can be
    treated in other ways.
  • Know why a test or procedure is
    recommended and what the results could mean.
  • Know what to expect if your child does
    not take the medicine or have the test or procedure.
  • If your child has a follow-up
    appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your child’s
    provider after office hours. This is important if your child becomes ill and you have
    questions or need advice.

Pneumothorax in Children

A pneumothorax is an air leak in the lungs. It’s when air from the
lungs leaks into the chest area. The leak may start suddenly or may develop slowly. It
often occurs in the first 24 to 36 hours after birth. How serious the illness is depends
on where the leak is, how quickly the leak occurs, and how much air is leaking.

The most common cause of
pneumothorax is from air delivered by a breathing machine (mechanical ventilator). A
baby born with a lung disease may need to be on a breathing machine.

Pneumothorax can also occur suddenly in children. But this is
uncommon.

Another cause is meconium
aspiration. This is when a baby is still in the mother’s uterus and breathes in its
first stool (meconium). Air may then become trapped, causing the lungs to expand too
much. This can lead to air leaks.

Children at risk for a pneumothorax
are:

  • Babies with other lung diseases such
    as respiratory distress syndrome
  • Babies on a mechanical ventilator
  • Premature babies whose lung tissue is
    more fragile
  • Babies with meconium aspiration

Symptoms may be a bit different for
each child. Some otherwise healthy babies can develop an air leak that does not cause
symptoms or distress. Others may have these symptoms:

  • Irritability and restlessness
  • Rapid breathing
  • Grunting
  • Nostril flaring
  • Skin on the chest sinks in around the
    ribs when the child breathes (chest wall retractions)
  • Pale or bluish skin color

These symptoms may look like other
health problems. Make sure your child sees his or her healthcare provider right away for
a diagnosis.

Your child’s healthcare provider
can diagnose a pneumothorax with a health history and physical exam. Your child may also
need:

  • Chest X-rays. This test makes images
    of internal tissues, bones, and organs. It may show air in places that is not normal,
    a collapsed lung, or structures in the chest that aren’t in a normal position.
  • Transillumination. During this test,
    the healthcare provider puts a fiber-optic light probe on the baby’s chest wall. The
    side of the chest with the air leak shows a brighter light. This test is often used
    in an emergency.

Treatment will depend on your
child’s symptoms, age, and general health. It will also depend on how severe the
condition is.

Treatment for a pneumothorax
depends on how big it is and what symptoms it is causing. Some air leaks that do not
cause symptoms or distress may get better on their own without treatment. As the leak
seals over, air is absorbed into your child’s body.

For air leaks that cause symptoms,
treatment may include:

  • Giving extra oxygen. Giving oxygen to
    your child may help heal the air leak more quickly.
  • Removing the collected air. The
    healthcare provider puts a syringe or a thin tube (catheter) through the chest wall
    into the air space. The air may be removed with the syringe. Or the tube may be
    connected to a drainage system to help remove the air until the leak can seal.

A pneumothorax in a child can lead
to:

  • Cardiac arrest
  • Death

Even when the air pressure and settings on mechanical ventilators are
carefully watched, air leaks can still happen. Your baby’s healthcare team will watch
your baby carefully for signs of an air leak. If that occurs, treatment can be started
as quickly as possible.

Call your child’s healthcare provider if your child has any symptoms
of a pneumothorax.

Call 911 if
your child is having trouble breathing.

  • A pneumothorax is an air leak in the
    lungs. It’s when air from the lungs leaks into the chest area.
  • A pneumothorax may start suddenly or
    may develop slowly. It often occurs in the first 24 to 36 hours after birth.
  • A baby who needs to be on a breathing
    machine is most at risk for a pneumothorax.
  • A baby with an air leak has a hard
    time breathing. He or she may breathe rapidly or grunt.
  • Treatment may include giving extra
    oxygen or removing the air with a syringe or tube.
  • Some air leaks may get better without
    treatment.

Tips to help you get the most from
a visit to your child’s healthcare provider:

  • Know the reason for the visit and what
    you want to happen.
  • Before your visit, write down
    questions you want answered.
  • At the visit, write down the name of a
    new diagnosis, and any new medicines, treatments, or tests. Also write down any new
    instructions your provider gives you for your child.
  • Know why a new medicine or treatment
    is prescribed and how it will help your child. Also know what the side effects
    are.
  • Ask if your child’s condition can be
    treated in other ways.
  • Know why a test or procedure is
    recommended and what the results could mean.
  • Know what to expect if your child does
    not take the medicine or have the test or procedure.
  • If your child has a follow-up
    appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your child’s
    provider after office hours. This is important if your child becomes ill and you have
    questions or need advice.

Phenylketonuria (PKU) in Children

Phenylketonuria (PKU) is a rare metabolic disorder. Children with PKU can’t process an amino acid called phenylalanine. Phenylalanine is in many common foods. It helps the body make protein. It’s also important for brain growth. It’s normally changed to tyrosine, which helps create all of the body’s proteins. But with PKU, the amino acid can build up in the bloodstream and cause harm. PKU is found with a simple blood test. All newborn babies in the U.S. are screened for PKU.   

PKU is caused by a defect in a gene known as the PAH gene. This defect changes the way that phenylalanine is broken down by the body during digestion. PKU is passed on to children when each parent has 1 mutated gene. This means that neither parent has any symptoms of PKU, but both are carriers of the faulty gene. PKU is an autosomal recessive disease. This means that a child needs to inherit 1 faulty gene from each parent to show signs of the disorder.

A child is at risk for PKU if his
or her parents each have 1 faulty PAH gene. PKU affects 1 out of every 10,000 to 15,000
newborns born in the U.S.

If a baby is not tested and has undiagnosed PKU, he or she may show signs or symptoms at several months old. Some babies with PKU may seem more drowsy and listless than normal. They may have feeding problems. As they continue to take in protein and phenylalanine through their diets, they may have growth, mood, behavior, and thinking problems, as well as other problems. Symptoms can range from mild to severe based on how much phenylalanine is in the blood.

The symptoms of PKU can be like other health conditions. Make sure your child sees his or her healthcare provider for a diagnosis.

All newborn babies in the U.S. are screened for PKU with a blood test. If you adopt a child from another country, he or she may need to be screened for PKU and other genetic diseases.

PKU is treated with a special diet.
Newborn babies who test positive for PKU are placed on phenylalanine-free formula right
away.

As babies start to eat solid food, their diet will need to be restricted. This is because phenylalanine is found in many foods with protein. A child with PKU should not eat milk, fish, cheese, nuts, beans, or meat. A child with PKU can eat many foods low in protein, such as vegetables, fruits, and some cereals. Your child may also need to take mineral and vitamin supplements to make up for nutrients missing from the diet.

Children with PKU can’t tolerate the sugar substitute called aspartame. Aspartame contains phenylalanine. You will need to read all food labels to make sure your child avoids foods and drinks that contain this sweetener.

A baby born to a woman who has PKU
that is not controlled with a special diet is at high risk for serious problems. The
developing baby in the uterus can be exposed to very high levels of phenylalanine. This
can cause low birth weight, slow growth, small head, behavior problems, and heart
disorders. These mothers are also at risk for pregnancy loss.

If PKU in a child is not diagnosed and treated, phenylalanine will build up in the bloodstream until it reaches levels that can cause brain damage. It can also cause permanent damage to organs and tissues around the body. PKU can lead to:

  • Developmental delays
  • Heart defects, especially in infants born to mothers with PKU and uncontrolled phenylalanine in pregnancy
  • Autism
  • Intellectual disability
  • Very small head size (microcephaly)
  • Behavioral problems
  • Seizures
  • Eczema (a skin condition marked by an
    itchy red rash or blisters)
  • Pale hair and skin compared with other family members
  • Delayed physical growth
  • Musty body odor

Women with PKU who are of childbearing age should be careful to follow a strict low-protein diet. Your healthcare provider may advise genetic counseling. You can discuss with a counselor the risk for PKU in a future pregnancy.

Children born with PKU will need to follow a lifelong low-protein diet and stay away from aspartame. If they don’t, they may have mood disorders, poor memory and problem-solving skills, depression, and uncontrollable shaking (tremors).

If your baby is born with PKU, you can do certain things to take care of him or her:

  • Keep all appointments with your baby’s healthcare provider.
  • To help with dietary restrictions and planning, your healthcare provider may refer you to a registered dietitian:
    • Natural sources of protein have too much phenylalanine for children with PKU. So your child can’t have meat, milk, or other common foods that contain protein. Instead, he or she must eat a variety of processed foods that are phenylalanine-free.
    • Your child can eat fruits, vegetables, and limited amounts of certain grain cereals.
    • Your child can have special nutritional products, including infant formula without phenylalanine.
  • Consider genetic testing and counseling to understand your risk of passing on the gene that causes PKU.
  • Tell others about your baby’s condition. Work with your child’s healthcare provider to develop a treatment plan.
  • Reach out for support from local community services. Being in touch with other parents who have a child with PKU can also be helpful.

Call the healthcare provider if your child has:

  • Symptoms that don’t get better, or get worse
  • New symptoms that concern you
  • Phenylketonuria (PKU) is a rare metabolic disorder. Children with PKU can’t process an amino acid called phenylalanine.
  • Phenylalanine is in many common foods. But it can build up in the bloodstream of children with PKU. This can cause growth, mood, behavior, and thinking problems, as well as other problems ranging from mild to severe.
  • If PKU is untreated, phenylalanine will build up in the bloodstream until it reaches levels that can cause brain damage and other serious problems.
  • With treatment and dietary restrictions, a child with PKU can grow and develop normally.
  • All newborn babies in the U.S. are screened for PKU with a blood test. If you adopt a child from another country, he or she may need to be screened for PKU and other genetic diseases.
  • PKU is treated with a special diet. Newborn babies who test positive for PKU are placed on phenylalanine-free formula right away.
  • If you are a woman with PKU, your healthcare provider may advise genetic counseling. You can discuss with a counselor the risk of PKU in a future pregnancy.

Tips to help you get the most from a visit to your child’s healthcare provider:

  • Know the reason for the visit and what you want to happen.
  • Before your visit, write down questions you want answered.
  • At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.
  • Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.
  • Ask if your child’s condition can be treated in other ways.
  • Know why a test or procedure is recommended and what the results could mean.
  • Know what to expect if your child does not take the medicine or have the test or procedure.
  • If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.