Osteogenesis Imperfecta: Brain Abnormalities and Symptoms Explained

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Hello Doctor: I am a patient with Osteogenesis Imperfecta (OI).
In December 2004, I experienced a severe episode of dizziness that lasted for several days and extended beyond a month, but it eventually resolved on its own.
However, around November 2006 until now, I have had similar but milder symptoms, along with occasional headaches.
About three to four years ago, I began to feel discomfort in my right shoulder and neck, as if there were issues with blood vessels or nerves (my right eye also feels uncomfortable).
My right hand seems less agile than before, with a slight feeling of weakness, and it appears to be gradually worsening.
Due to certain factors, I was unable to seek immediate medical attention and did not visit a neurologist until June 2008.
I underwent tests that seemed related to the auditory nerve, but the doctor did not indicate any serious issues.
However, my condition did not improve, so in April 2009, I consulted another neurologist (as the previous doctor had gone abroad).
This doctor asked me to perform clapping motions (both forward and backward) and noted that the movements of my right hand showed some muscle contraction issues, were somewhat uncoordinated, and had noticeably slowed down, indicating mild hypotonia.
An MRI was arranged, and in early July 2009, the report indicated no major problems, but the doctor noted some congenital developmental issues in the brain and some brain atrophy.
The doctor remarked that at 32 years old, I should not be experiencing brain atrophy.
When asked why I was in a wheelchair, I explained it was due to OI.
The doctor suggested that the brain's appearance was related to congenital structural abnormalities, and the observed atrophy should not be present.
This could explain some of my headaches and hypotonia issues.
The last time I was evaluated, my right hand movements were indeed slower, and it was noted that the left hemisphere of my brain had developed less well than the right.
Overall, this is considered a developmental issue linked to the congenital genetic changes associated with Osteogenesis Imperfecta, which have resulted in suboptimal brain function.
The doctor assured me that it would not worsen or spread throughout my body, and that my headaches were not related to OI, but the slower movements of my right hand were.
After leaving the clinic, I have had ongoing questions.
I would like to ask the doctor: Is Osteogenesis Imperfecta only associated with bone fragility? Can OI also involve congenital structural abnormalities in the brain? Is hypotonia also a possibility? Based on what the neurosurgeon said, if my brain has congenital structural abnormalities and my symptoms are related to this, shouldn't these issues have manifested earlier? However, I only began experiencing these symptoms a few years ago! Will the observed brain atrophy and my symptoms worsen? In recent years, I have noticed a significant decline in my memory and language skills (not due to slurred speech), and I am unsure if this is related to aging or the brain atrophy.
Could you please help me answer these questions? Thank you!

Lengjing, 30~39 year old female. Ask Date: 2010/02/19

Dr. Lin Xuanpei reply Rare Disease

It is unclear how old this adult internet user is or what their gender is.
Osteogenesis imperfecta (OI) typically does not involve brain lesions.
If the user's neurological symptoms are not due to other factors, it is essential to consider the possibility of cervical spinal cord compression or lesions.
It is recommended that they promptly visit a neurology department at a medical center to seek professional medical advice and arrange for further examinations and treatment, such as those offered by the Pediatric Genetics Department at Mackay Memorial Hospital.

Reply Date: 2010/02/19

More Info

Osteogenesis Imperfecta (OI), commonly known as "brittle bone disease," is primarily characterized by fragile bones that break easily. However, it is essential to recognize that OI can also have implications beyond skeletal issues, including potential neurological and cognitive effects. Your concerns regarding brain abnormalities, muscle tone issues, and cognitive decline are valid and warrant a comprehensive understanding.

Firstly, it is important to note that OI is caused by genetic mutations affecting collagen production, which is crucial for the strength and integrity of bones and connective tissues. While the primary focus is often on bone health, the impact of collagen deficiency can extend to other systems, including the nervous system. Some studies suggest that individuals with OI may experience various neurological symptoms, including muscle weakness, coordination issues, and even cognitive challenges.

Regarding your specific symptoms, such as dizziness, headaches, and muscle tone abnormalities, these can be associated with neurological conditions that may arise due to the structural abnormalities in the brain. The MRI findings you mentioned indicate some degree of brain atrophy and congenital structural issues, which could potentially contribute to the symptoms you are experiencing. Brain atrophy, particularly in younger individuals, can be concerning and may lead to cognitive decline, memory issues, and difficulties in motor coordination.

The relationship between OI and neurological symptoms is complex. While OI itself does not directly cause brain atrophy, the underlying genetic factors that contribute to OI may also influence brain development and function. This could explain why you are experiencing symptoms that seem to have developed later in life, despite having OI from an early age. It is possible that the cumulative effects of structural brain abnormalities, combined with the challenges posed by OI, have led to the onset of these symptoms.

As for your concerns about muscle tone and coordination, the mild hypotonia (decreased muscle tone) you mentioned could be related to the neurological aspects of your condition. Muscle tone can be affected by various factors, including neurological function, and it is not uncommon for individuals with structural brain abnormalities to experience coordination difficulties.

In terms of cognitive decline, it is crucial to differentiate between age-related changes and those potentially linked to your underlying condition. While some cognitive decline can be attributed to normal aging, the presence of brain atrophy may accelerate this process. Memory issues and language difficulties can arise from various factors, including stress, anxiety, and neurological changes. It would be beneficial to discuss these cognitive concerns with a neurologist or a specialist in cognitive disorders who can provide a thorough evaluation and recommend appropriate interventions.

To address your question about whether the symptoms you are experiencing will worsen, it is challenging to predict the progression of neurological symptoms in individuals with OI. Regular monitoring and follow-up with healthcare providers specializing in both OI and neurology are essential. They can help manage your symptoms and provide strategies to improve your quality of life.

In summary, while OI is primarily known for its skeletal manifestations, it can also have implications for neurological health. Your symptoms of dizziness, headaches, muscle tone issues, and cognitive decline may be interconnected with the structural abnormalities in your brain. It is crucial to maintain open communication with your healthcare providers, seek regular evaluations, and explore supportive therapies that can enhance your overall well-being.

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