Monitoring

Every 4 months until age 3 years: For infants who have not had genetic testing or who have a SUFU gene mutation, an MRI of the brain to look for medulloblastoma. Then, the MRI should be repeated twice per year until 5 years of age.

Every 2 years: For children over the age of 8 with a PTCH1 genetic mutation, a digital panorex, CT scan  or MRI of the jaw for odontogenic keratocysts. If you are not sure if this applies to you/your child, ask the care team.

Routine well-child visits to check that you/your child are meeting developmental milestones. Additional imaging or testing may be recommended based on you/your child’s symptoms

Once a year: If you/your child has an odontogenic keratocyst (OKC), a digital panorex and sometimes the smaller conventional dental radiographs called periapical x-rays can be used to focus on a specific area of the jaw where a keratocyst may be expected due to a swelling which can be determine with a clinical dental exam.  An MRI of the jaw may be obtained if there is clinical suspicion of keratocyst and may be prescribed every year after the appearance of the first odontogenic keratocyst until 22 years of age. After 22 years, regular follow-up with a dentist and additional jaw imaging can be determined based on symptoms.

Once a year: For people with a history of medulloblastoma, a neurology evaluation (evaluation of the brain and nervous system).

Skin exams depend on whether you/your child have BCCs. If you/your child have BCCs, skin exams are every 3-6 months. If you/your child do not have BCCs, skin exams are once a year.

As needed: Regular psychological exams for emotional health

When family planning decisions are needed: Consider seeing a clinical geneticist (genetics doctor).

Avoid imaging that involves radiation (such as x-rays) unless they are necessary.

The care team may recommend additional screening or evaluation for children or adults who develop specific clinical symptoms:

MRI of the brain to help doctors check for signs and symptoms of medulloblastoma or a benign tumor such as meningioma. This can include:

• Balance problems
• Dizziness
• Nausea/vomiting
• Hearing changes
• Headache
• Vision changes

Developmental screening/testing to evaluate for abnormal psychomotor development (development of the relationship between a child’s physical movement and cognitive function, or how the brain works, thinks, and remembers)

Hearing, vision, and speech evaluations

If heart symptoms are found during baseline tests or develop at a later age, a repeat cardiac ultrasound to look for cardiac fibroma (a type of benign, or not harmful, heart tumor).

For girls/women girls/women or those assigned female at birth develop abdominal (belly area) pain or changes to their menstrual cycle (period), a gynecologic evaluation and ultrasound to check for ovarian fibromas (a benign tumor on the ovaries, or reproductive organs in females/those assigned female at birth).

For anyone who develops unexplained abdominal pain, an ultrasound to screen for mesenteric cysts (a rare type of abdominal cyst)