Osteogenesis Imperfecta: Brain Abnormalities and Symptoms Explained

Department of Genetic Medicine

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, extending over a month, after which it resolved on its own.
However, around November 2006 until now, I have had similar but milder symptoms, along with occasional headaches.
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 does not feel as agile as before and has a slight sense of weakness, which seems 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 similar to those for auditory nerve issues, and the doctor did not indicate any serious problems.
However, my condition did not improve, so in April 2009, I consulted another neurologist (as the previous doctor had gone abroad).
The new doctor had me perform clapping exercises (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 MRI report indicated no major issues; however, the doctor noted some congenital developmental abnormalities in my brain and some brain atrophy, which is unusual for someone my age (32 years old).
The doctor asked why I was in a wheelchair, and I explained it was due to OI.
The doctor mentioned that the brain abnormalities appeared to be related to congenital structural issues, and the atrophy was not typical for my age.
This could explain some of my headaches and hypotonia.
During my last visit, the doctor observed that my right hand movements were slower, and confirmed that the left hemisphere of my brain had developed less well than the right.
Overall, this is a developmental issue related to the genetic changes associated with Osteogenesis Imperfecta, which has resulted in suboptimal brain function.
The condition is not expected to worsen or spread throughout my body, and my headaches are not related to OI, but the slower movements of my right hand are connected to it.
After leaving the clinic, I have had ongoing questions and uncertainties.
I would like to ask the doctor: Is Osteogenesis Imperfecta associated only with bone fragility? Can OI also lead to congenital structural abnormalities in the brain? Is hypotonia also a possibility? If the neurosurgeon’s assessment is correct, and my brain has congenital structural abnormalities related to my symptoms, shouldn’t these issues have manifested earlier? However, I only began experiencing these symptoms a few years ago! Will the 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 address these questions? Thank you!

Niming, 30~39 year old female. Ask Date: 2010/03/11

Dr. Jian Yingxiu reply Rare Disease

Your condition may be due to other causes of osteoporosis leading to increased fracture risk, such as atypical osteogenesis imperfecta type I or type IV.
Please consult your physician regarding relevant tests for OI to confirm the diagnosis.

Reply Date: 2010/03/11

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 mutations in genes responsible for collagen production, which is a crucial protein for bone strength and structure. While the primary manifestations of OI are related to the skeletal system, there is evidence suggesting that individuals with OI may experience neurological issues, including brain structural abnormalities. These abnormalities can arise due to the underlying genetic factors affecting collagen synthesis, which may also influence the development and integrity of other tissues, including those in the brain.

Your MRI results indicating some degree of brain atrophy and congenital structural abnormalities are significant. Brain atrophy refers to the loss of neurons and the connections between them, which can lead to cognitive decline and other neurological symptoms. The fact that you are experiencing headaches, dizziness, and muscle tone issues, particularly on the right side, suggests that there may be a neurological component to your condition. The muscle tone irregularities you mentioned, such as hypotonia (reduced muscle tone), can indeed be associated with neurological conditions and may be exacerbated by the structural issues in your brain.

Regarding your question about whether OI can lead to brain abnormalities, the answer is yes. While not all individuals with OI will experience neurological issues, the potential for such complications exists, particularly if there are associated congenital anomalies. The symptoms you are experiencing, including the gradual onset of right-hand weakness and coordination problems, could be linked to these brain structural issues. It is also possible that the cognitive decline you are noticing, such as memory and language difficulties, could be related to the brain atrophy observed in your MRI.

As for the progression of your symptoms, it is difficult to predict with certainty. Brain atrophy can be a progressive condition, and while it may not necessarily worsen rapidly, it can lead to gradual cognitive decline over time. Factors such as age, overall health, and the presence of other medical conditions can influence the rate of progression. It is crucial to maintain regular follow-ups with your healthcare providers, including neurologists, to monitor your condition and address any new or worsening symptoms.

In terms of management, a multidisciplinary approach is often beneficial. This may include physical therapy to improve muscle strength and coordination, occupational therapy to assist with daily activities, and cognitive rehabilitation to address memory and language issues. Additionally, staying engaged in cognitive activities, maintaining a healthy lifestyle, and managing any other health conditions can contribute positively to your overall well-being.

In summary, while OI primarily affects the bones, it can also have implications for brain structure and function. The symptoms you are experiencing may be interconnected with the neurological aspects of your condition. It is essential to continue working closely with your healthcare team to address these concerns and develop a comprehensive management plan tailored to your needs. If you have further questions or need clarification, do not hesitate to reach out to your healthcare providers for support.

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