overview - Dr. Allen Cherer | Neonatal Care & Pediatrics

Roughly 1 out of 70,000 newborns is born with neonatal Alagille syndrome. This condition is often present at birth, though it can take several years for the symptoms to become present. Here are some important facts that parents need to know about neonatal Alagille syndrome.

What Is Neonatal Alagille Syndrome?

Neonatal Alagille Syndrome is a type of genetic disorder that children can inherit from their parents. People with neonatal Alagille syndrome have a mutated or missing copy of a gene labeled Jagged1 on chromosome 20. Problems with this gene are associated with a wide range of liver, heart, and eye problems. Due to a variety of skeletal abnormalities, people with neonatal Alagille syndrome tend to have a very characteristic appearance. Alagille syndrome is also referred to as Alagille-Watson syndrome, syndromic bile duct paucity, or arteriohepatic dysplasia.

What Are the Neonatal Alagille Syndrome Symptoms?

Not all people with neonatal Alagille syndrome have the same symptoms present. The condition can just cause minor issues like some changes to facial features, or it can cause severe heart and liver disease. Some of the most common symptoms include:

Deep-set eyes
Straight nose
Triangular face shape with pointed chin
Jaundice
Heart murmurs
Cardiac anomaly
Short height
Butterfly shaped vertebrae
Kidney abnormalities
Eye abnormalities

Parents should keep in mind that some symptoms, like kidney abnormalities, can take a while to notice. Signs that these organs are not functioning properly can include chronic itchiness, fatigue, pale skin, fluid retention, weakness, or abnormally pale feces.

How Is Neonatal Alagille Syndrome Treated?

Treatment for neonatal alagille syndrome typically relies on what symptoms the patient is presenting. Many children have mild enough Alagille syndrome that they just need to eat a healthy diet and get plenty of rest to help with issues like delayed puberty or failure to thrive. Certain medications can help with things like improving bile function, stabilizing kidney function, and helping the heart run properly. However, in more serious situations, surgery may be necessary. Surgeries can help to correct skeletal issues, replace malfunctioning kidneys and livers, or treat cardiac abnormalities.

Neonatology is a type of pediatrics, focusing specifically on medical care for newborns. The primary patients of neonatology are newborn infants who were born ill or became ill shortly after birth.

Here is a quick overview of this medical concentration, for those unfamiliar.

Origins of Neonatology

Neonatology is a very recent concentration of pediatrics. High infant mortality rates existed as early as the late 1800s. The first premature infant incubator station was created in Chicago by Joseph DeLee. The first NICU (newborn intensive care unit) was established in New Haven, Connecticut. Neonatology was officially recognized as an official subspecialty of pediatrics in 1975 by the American Board of Pediatrics.

Modern Neonatologists

Modern neonatology physicians are not here to help with minor problems; a normal pediatrician will be able to assist with most medical issues in infants. A neonatologist is trained to deal with high-risk situations. Premature babies, birth defects, and other serious issues are handled by neonatologists.

Neonatologists are serious doctors, and it takes serious time to become qualified. In addition to a standard college education, a doctor must have 4 years of medical school, 3 years of residency in pediatrics, 3 more years of residency in newborn intensive care, and they must be certified by the American Board of Pediatrics.

In addition to neonatologists, there are neonatal nurse practitioners. These nurses are specialized in neonatal care, and they will be assisting the physician along the way. They are able to diagnose some issues, prescribe medication, and some can even perform medical procedures themselves.

A neonatologist may assist with the diagnoses of breathing disorders, certain infections, and birth defects. They will also be the primary strategist in treatment options for an infant. They will formulate nutrition plans to make sure an infant will have maximum growth. A neonatologist will work closely with other medical staff, pediatricians, and nursing staff to assist with any serious illnesses in newborns.

Neonatologists are Best for Newborns

Minor problems for adults could mean possible death for an infant. That’s why specialists are needed for infants. There are also many common postpartum issues that a neonatologists can assist with. Many of these are routine for them; however, rare diseases and disorders can be diagnosed by a neonatologist as well.

Neonatal jaundice, neonatal cancer, inborn errors of metabolism, neonatal diabetes mellitus, neonatal herpes simplex, and neonatal seizure are a few of the more common problems a neonatologist will assist with.

Dr. Allen Cherer is a neonatal care expert with over 30 years of medical accomplishments to his name.

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A Closer Look at Neonatal Alagille Syndrome