Poretti Boltshauser Syndrome (PTBHS) is a rare condition that someone is born with. It affects the cerebellum, the part of the brain that helps coordinate movement and balance. Because of this, people with PTBHS may experience challenges with coordination, muscle control, and development.
One important thing to know is that PTBHS is non-progressive. This means that the symptoms do not get worse over time — they stay relatively stable throughout life.
Sometimes, children with PTBHS have cysts in the cerebellum, although this is not always the case.
PTBHS was only identified in 2014, which makes it a very recently discovered syndrome. Because of this, many individuals may still be undiagnosed or misdiagnosed.
The condition is caused by a change in the LAMA1 gene. In many cases, both parents are carriers of this gene without knowing it. However, recent discoveries show that this is not always the case, and the genetics can sometimes be more complex.
Often, it takes time before it becomes clear that a child has PTBHS. Every child develops in their own way, and the signs may only gradually become noticeable.
Variation
very person with PTBHS is unique. Not everyone will experience the same symptoms, and the severity can vary greatly from person to person.
Some of the challenges that may be seen include:
- low muscle tone
- developmental delays
- balance issues
- issues with talking
- swallowing issues
- very nearsighted
- Ocular Motor Apraxia
- variable retinal dystrophy
- problems learning
- problems with focusing or concentrating
- autistic features
- constipation, IBS
- problems with getting potty trained
- seizures
- problems with energy levels; fatigue
PBS is diagnosed by MRI and genetic testing.
Helpful therapies
There is currently no cure for Poretti Boltshauser Syndrome. However, there are many ways to support someone in their development and daily life.
With the right guidance and care, children and adults with PTBHS can continue to grow, learn, and find their own way.
Some forms of support that may be helpful include:
- a personal coach
- glasses or eye patches with a lazy eye
- physical therapy
- speech therapy
- occupational therapy
- rehabilitation doctor
- special education
- medication to improve focus
- psychiatrist
- medication for constipation (fibres)
- a dietitian
Future
“But what does this diagnosis mean for the future?” I am sure this is a question most of the parents visiting this website or getting the diagnosis of PBS have. A big part of the children diagnosed with PBS can have a independent life. Some need more help, like a personal coach. Children with this diagnosis may encounter problems in life, but they will also learn how to adapt and make the most of life.
Images included in this website are made possible by the University of Washington Hindbrain Malformation Program. Thank you for sending images and information.
