Blue baby syndrome is a group of conditions where the blood has decreased ability to carry oxygen, thus resulting in a bluish coloration of the skin. The color is most noticeable on the lips, earlobes, and nail beds. It is recommended to seek medical attention if your baby has cyanosis.
Read this MomJunction post to know more about the causes, symptoms, diagnosis, and treatment of the blue baby syndrome.
What Causes Blue Baby Syndrome?
Cyanosis in children has to be interpreted in terms of at what age it started, the area affected and whether it is persistent or not.
The following conditions may cause bluish discoloration of the skin in babies:
Children less than six months of age:
- Hypothermia i.e., if babies are getting colder
- Cyanotic heart disease
- Serious and uncommon diseases related to lungs, brain, and metabolism
1. Cyanotic heart disease
Cyanotic heart disease includes any type of structural heart defect that causes the shunting of blood from the right to the left side of the heart – meaning mixes the good oxygenated blood with bad unoxygenated blood inside the heart and so, impure blood circulates in body. It eventually leads to low blood oxygen levels and blue baby syndrome.
Uncontrolled diabetes, drug use, and certain medications during pregnancy are found to increase the risk of heart defects in a baby (1). It can also be due to genetic conditions such as Down syndrome.
The following types of cyanotic heart diseases may cause blue baby syndrome (2).
- Patent truncus arteriosus (PTA): This rare congenital heart defect occurs due to the failure of the division of the major blood vessel of the heart.
- Transposition of the great vessels: It is a heart defect where the position of aorta and pulmonary artery are interchanged.
- Tricuspid atresia: Deformation of the valve between the right chambers of heart, resulting in backflow of blood.
- Tetralogy of fallot:It is a combination of four congenital structural anomalies of the heart, including stenosis of the pulmonary valve, a hypertrophied right ventricle, development of an aorta that communicates with both the ventricles, and ventricular wall defect.
- Anomalous pulmonary venous connection: The pulmonary veins that bring blood from lungs to heart do not attach properly to the heart.
Less than six months old babies as well as older children can have some other reasons to get cyanosis. Some are good to know in detail.
2. Acquired methemoglobinemia
It occurs due to nitrate or nitrite poisoning and is common in babies less than six months old. Underdeveloped fecal organisms in babies convert nitrate to nitrite in the gastrointestinal tract. Nitrates are not toxic to the body but if converted into nitrite, it may lead to blue baby syndrome. Nitrate and nitrite convert hemoglobin to methemoglobin, which cannot carry oxygen. It leads to low blood oxygen levels and blue baby syndrome (3).
Babies may get nitrate from the following sources (4).
- Infant formula mixed with well water or contaminated groundwater (5)
- Drinking water
- Exposure to chemicals containing nitrate
- Exposure to certain drugs such as dapsone, chloroquine, nitrobenzene, and benzocaine (6)
3. Hereditary methemoglobinemia
It is also known as autosomal recessive congenital methemoglobinemia. It is rare, and often runs in families. The problem arises with genes that regulate the production of an enzyme called reduced nicotinamide adenine dinucleotide (medically called NADH) (7). A deficiency of the enzyme leads to poor blood oxygen levels and blue baby syndrome.
Type I: It is characterized by only cyanosis and symptoms related to oxygen deficiency, such as weakness and shortness of breath.
Type II: It causes cyanosis and neurological dysfunctions such as brain damage, uncontrolled muscle tensing, involuntary limb movements, microcephaly (small size of the head), and developmental delays.
4. Breath-holding spells
The child holds breath and progresses towards cyanosis at the end, however it is a benign condition and recovers soon without intervention. Though look frightening, it is completely benign.
Signs And Symptoms Of Blue Baby Syndrome
Bluish color of the skin around the mouth, hands, and feet is generally seen in all cases.
Generally, cyanosis due to hypothermia is mainly at hands and feets and due to heart disease is around the mouth. The bluish coloration can happen within hours to days after birth if it is due to heart disease. It may also be constant or occur in temporary episodes.
- Shortness of breath
- Rapid breathing
- Fainting (loss of consciousness)
- Clubbing of fingers or toes (round shape nail bed)
- Poor growth
- Going out of breath during feeds
- Getting sweaty while feeding
- Bluish coloration of gums and tongue
- Abnormal heart sounds
Methemoglobinemia can cause a slate-like gray or bluish-gray appearance of the skin. Babies with any form of methemoglobinemia will also display the following symptoms (6):
- Loss of muscular strength
- Shortness of breath
- Stupor (impaired reflexes)
- Increase in the production of saliva
- Loss of consciousness
When To See A Doctor?
See a doctor promptly if you notice a bluish coloration of your baby’s skin. Sometimes, the color may not be easily noticeable. In such cases, take the baby to a doctor if they have the following symptoms (2).
- Shortness of breath
Diagnosis Of The Blue Baby Syndrome
Your doctor will ask for health history and symptoms. The physical examination can determine cyanosis and abnormal heartbeats. The doctor will recommend the following tests to confirm the diagnosis (2) (11).
- Pulse oximetry to measure oxygen saturation in the blood. Usually it will be checked in the hospital or at the doctor’s clinic itself to know if the blood oxygen levels are low.
- Blood tests as per diagnosis suspected
- Chest x-ray
- Echocardiogram and electrocardiogram of the heart
- Blood gas analysis
- Methylene test, if nitrate poisoning suspected
- Genetic testing, if congenital disease suspected
How Is Blue Baby Syndrome Treated?
Treatment for the blue baby syndrome is based entirely on diagnosis found. As they are very diverse causes, treatment differs very largely.The following treatment methods are likely to be used (11).
- Medication and oxygen therapy for heart defects: Medicines help the heart work better and might reduce the effects of a heart defect. The baby may also be administered oxygen to improve blood oxygen levels.
- Heart surgery: It can rectify heart defects. The baby might require a surgery immediately or at a later age or both depending on the type of heart defect.
- Medication for methemoglobinemia: Some medicines, like methylene blue, can reduce the effects of methemoglobinemia and improve the oxygen-carrying capacity of the blood.
- Nutrient supplementation: Supplementation with vitamins, especially vitamin C or ascorbic acid, might help reduce the effects of nitrate and nitrite.
- Blood transfusion: If blood methemoglobin levels are very high, then the doctor might suggest transfusing oxygenated blood.
- Breath-holding spells need only some vitamin supplements and behavioral management advice to parents.
Methemoglobinemia due to genetic defects might not be curable and could require lifelong management.
Can You Prevent Blue Baby Syndrome?
- Use treated drinking water for drinking and preparing baby formula. Distilled water is safe but boiling does not remove nitrates from water.
- If you use well water or groundwater, then get it tested for the presence of nitrate and nitrite.
- Limit the use of nitrate-rich foods such as spinach and beets
- Avoid alcohol, smoking, narcotics, and OTC medications during pregnancy. These substances might increase the risk of birth defects, including heart defects, which is one of the causes of blue baby syndrome.
- You could consider breastfeeding over formula feeding, if you have an option. Adults break down nitrates in the body, and thus it is safe to breastfeed.
Blue baby syndrome could be cured or require long term management. Conditions such as methemoglobinemia often cure on their own as the baby’s body becomes adept at handling nitrate and nitrite. Staying alert to changes in skin color and other symptoms can help in early diagnosis and timely treatment of the blue baby syndrome.
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2. Cyanotic heart disease; The United States National Library of Medicine
3. Health Concerns Related to Nitrate and Nitrite in Private Well Water; Environmental Health Investigations Branch; California Department of Health Services
4. Water-related diseases; Methaemoglobinemia; The World Health Organization
5. L Knobeloch, et al.; Blue babies and nitrate-contaminated well water.; The United States National Library of Medicine
6. Methemoglobinemia; The United States National Library of Medicine
7. Habib Ur Rehman and Specialist registrar; Methemoglobinemia; The United States National Library of Medicine
8. Autosomal recessive congenital methemoglobinemia; The United States National Library of Medicine
9. Hereditary methemoglobinemia; The National Center for Advancing Translational Sciences; Genetic and Rare Diseases Information Center
10. Symptoms that Might Indicate a Heart Problem; The Children’s Hospital of Philadelphia
11. Maria M. Ossa Galvis and Magda D. Mendez.; Cyanotic Heart Disease; The United States National Library of Medicine
12. Nitrate in Drinking Water; The Washington State Department of Health
13. Nitrates, blue baby syndrome, and drinking water: A Factsheet for Families; Pediatric Environmental Health Specialty Unit (PEHSU)