Managing Digestion and Nutrition

In Johanson-Blizzard Syndrome (JBS), the pancreas often does not develop fully or its cells are replaced by fatty tissue before birth ^[1][2]. This leads to Exocrine Pancreatic Insufficiency (EPI), a condition where the pancreas cannot produce the enzymes needed to break down and absorb fat, protein, and carbohydrates from breast milk or formula ^[3][4].

Symptoms of Malabsorption in Infants

When a baby has EPI, the nutrients they eat pass through their system without being absorbed. This results in several clear signs:

• Steatorrhea: Stools that are frequent, bulky, and noticeably oily or greasy ^[4][5]. They may have a strong odor and appear pale.
• Poor Weight Gain: Because the baby isn’t absorbing calories, they may have difficulty gaining weight (growth faltering) despite having a strong appetite ^[3][1].
• Abdominal Issues: Frequent gas, bloating, or visible discomfort after feedings ^[6][7].

Standard of Care: Managing Nutrition

Treatment focuses on replacing what the pancreas is missing and ensuring the baby gets enough energy to grow.

Pancreatic Enzyme Replacement Therapy (PERT)

PERT involves giving your baby manufactured enzymes with feeds. These enzymes do the work the pancreas cannot, allowing the body to absorb nutrients ^[8].

• Administration: For infants, enzymes are often provided as tiny enteric-coated microspheres inside a capsule ^[9][10]. The capsule is typically opened, and the beads are mixed with a small amount of acidic food (like applesauce, if age-appropriate and approved by your dietitian) or given directly as prescribed. Crucially, do not crush or chew the beads, and do not mix them into a bottle of breast milk or formula—doing so destroys the protective coating and can severely irritate your baby’s mouth ^[10]. Always follow the exact instructions provided by your pharmacist or dietitian.
• Dosing: Your doctor will prescribe a specific dose measured in lipase units. Never adjust this dose on your own just because your baby’s stools look different; excessive dosing carries safety risks. Always contact the gastroenterology team for guidance on dose adjustments ^[11].

Vitamin and Mineral Supplementation

Because children with EPI cannot absorb fat well, they are at high risk for deficiencies in fat-soluble vitamins—A, D, E, and K ^[8][12].

• Supplementation: Vitamins are prescribed only when indicated by malabsorption or lab results. Do not start over-the-counter supplements without the treating team, as fat-soluble vitamins can be harmful in excess.
• Monitoring: Your team will monitor levels of these vitamins, as well as minerals like zinc and protein levels, through regular blood tests ^[13][5]. A severe Vitamin K deficiency is uncommon but serious, as it can lead to bleeding ^[12][14].

Monitoring and Growth

Growth is the best barometer of how well the treatment is working. Your care team will use growth charts to track weight, length, and head circumference at every visit ^[15][16]. A test called fecal elastase is used to diagnose EPI, but it cannot be used to adjust the enzyme dose ^[16].

When to Seek Emergency Care

Infants with EPI can deteriorate quickly if they become ill or severely dehydrated. Work with your doctor to create an action plan. Seek immediate medical attention if you notice any of the following:

• Signs of Dehydration: Decreased wet diapers as defined by your pediatrician, no tears when crying, or a “sunken” soft spot on the head.
• Breathing Difficulty: Fast breathing, grunting, or flaring of the nostrils.
• Fever: Any fever in a young infant (under 3 months) requires an immediate call to the doctor or a trip to the emergency room.
• Persistent or Bloody Vomiting: Inability to keep down feeds or enzymes, or any blood in vomit or stool.
• Severe Lethargy: Your baby is unusually sleepy, difficult to wake up, or unresponsive.
• Unusual Bleeding: Unexplained bruising or bleeding from the gums ^[12].