Osteogenesis Imperfecta: Neurological Impacts and Concerns

Neurology

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.
About three to four years ago, I began to feel discomfort in my right shoulder and neck, as if the blood vessels or nerves were obstructed (my right eye also feels uncomfortable).
My right hand seems less agile than before, and I experience a bit 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 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 MRI report indicated no major issues; the doctor mentioned that headaches are common and that there were no tumors, bleeding, vascular blockages, or edema.
The brain appeared to have some congenital developmental issues and some atrophy, which is unusual for someone my age (32).
The doctor inquired why I use a wheelchair, and I explained it was due to OI.
The doctor suggested that the brain's appearance was related to congenital structural abnormalities, noting that there was some atrophy, which should not be present at my age.
This could explain my headaches and hypotonia issues.
The last time I was observed, my right hand movements were slower, and it was confirmed that my left hemisphere developed less well than the right.
Overall, this is a developmental issue related to the congenital genetic changes associated with OI, affecting brain function, but it is not expected to worsen or spread throughout my body.
The headaches are not related to OI, but the slower movements of my right hand are connected to it.
The doctor advised that I do not need to return for further consultations.
After leaving the clinic, I had questions that I did not know how to address.
I would like to ask the doctor: Is Osteogenesis Imperfecta only associated with bone fragility? Can OI also lead to congenital structural abnormalities in the brain? Is hypotonia also a possibility? If the neurosurgeon indicated that my brain has congenital structural abnormalities and that my symptoms are related, 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 answer these questions? Thank you!

Niming, 30~39 year old female. Ask Date: 2010/05/07

Dr. Chen Shunsheng reply Rare Disease

The condition is relatively complex with numerous questions.
It is recommended to seek consultation at a medical center in your area, particularly for discussions with specialists in neurosurgery, neurology, and interventional radiology.
If necessary, genetic testing may also be required, which cannot be resolved online.

Reply Date: 2010/05/07

More Info

Osteogenesis Imperfecta (OI), commonly known as "brittle bone disease," is a genetic disorder characterized by fragile bones that break easily, often with little or no apparent cause. While the primary concern in OI is skeletal fragility, it is essential to recognize that this condition can also have neurological implications, which may not be immediately apparent.

From your description, it seems that you have experienced a range of neurological symptoms, including dizziness, headaches, and issues with coordination and muscle tone. These symptoms can be concerning, especially when they appear to be worsening over time. The relationship between OI and neurological issues is complex and can be influenced by several factors.

Firstly, it is important to understand that OI is caused by mutations in genes responsible for collagen production, particularly type I collagen. Collagen is a crucial protein that provides structure and strength to bones, but it is also found in other tissues, including the brain. Abnormal collagen can lead to structural anomalies in various body systems, including the central nervous system. This could potentially explain some of the neurological symptoms you are experiencing, such as the mild brain atrophy noted in your MRI results.

Brain atrophy, or the loss of neurons and the connections between them, can occur for various reasons, including genetic factors, aging, and other health conditions. In your case, the neurologist suggested that the brain's structural abnormalities might be related to the congenital nature of OI. While it is not typical for individuals with OI to experience significant neurological decline, the presence of structural anomalies could predispose you to certain neurological issues, such as muscle tone abnormalities and coordination difficulties.

Muscle tone abnormalities, including hypotonia (decreased muscle tone) or hypertonia (increased muscle tone), can indeed be associated with neurological conditions. In your case, the neurologist noted mild muscle tone issues and coordination difficulties in your right hand. These findings could be related to the underlying neurological changes associated with OI, particularly if there is a structural abnormality in the brain affecting motor control.

Regarding your concerns about memory and language difficulties, it is essential to consider that cognitive functions can be influenced by various factors, including age, stress, and neurological health. While some cognitive decline can be expected with aging, the presence of brain atrophy may contribute to these changes as well. It is crucial to monitor these symptoms and discuss them with your healthcare provider, as they may warrant further evaluation or intervention.

In summary, while OI primarily affects bone density and strength, it can also have neurological implications due to the underlying genetic and structural factors associated with the condition. The symptoms you are experiencing, including dizziness, headaches, and coordination issues, may be related to these neurological changes. It is essential to maintain open communication with your healthcare providers, including neurologists and specialists familiar with OI, to address your concerns and manage your symptoms effectively. Regular follow-ups and assessments can help ensure that any changes in your condition are appropriately monitored and treated.

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