Strange illness, please help me, doctor!
Dear Doctor,
My sister is 39 years old, 163 cm tall, and weighs 73 kg.
Over the past decade, she has experienced approximately ten episodes of sudden onset symptoms without any prior warning.
During these episodes, she feels as though her eyes cannot focus properly, exhibiting signs such as a vacant stare, erratic eye movements with pupils drifting, one eye rolling back while the other appears normal, alternating between closing and opening her eyes, and frequently squinting as if she is sleepy.
Occasionally, the corner of her mouth slightly twists upward for a few seconds.
When walking, she appears to be unsteady, resembling someone who is intoxicated, often bumping into parked cars, which is quite dangerous! Upon noticing the symptoms, if she rests for about half an hour, she gradually recovers.
Afterward, she reports being aware of what is happening, with normal consciousness and hearing, but she cannot control her limbs or eyes.
She can see objects in front of her but struggles to gauge their distance.
There is no significant discomfort, just a bit of fatigue and a sensation of elevated eye pressure.
Since childhood, she has had amblyopia and myopia, with her eyes appearing prominent.
As a child, she would faint after standing in the sun for more than ten minutes.
While sleeping, her eyes often remain partially open, about one-third, with one eye differing from the other.
Recently, she has occasionally noticed muscle spasms at the corner of her mouth upon waking at night, which is concerning.
What could this strange illness be? During transport to the hospital during an episode, she returned to normal on her own.
She has undergone examinations by ophthalmologists, neurologists, EEGs, and ECGs, but no definitive diagnosis has been made.
Which specialty should she consult? What condition might this be? Which doctors or hospitals are more knowledgeable about this illness? I would greatly appreciate your guidance.
Thank you!
A Shui Shen, 50~59 year old female. Ask Date: 2005/08/17
Dr. Chen Shunsheng reply Rare Disease
Aunt Ah Shui: I will first analyze the symptoms:
Sudden onset - The episode began suddenly without any warning signs.
Initial and seizure symptoms -
1.
Absence seizures - There may be a vacant stare, one eye may roll back while the other appears normal, sometimes the eyes may blink or close intermittently, and there is a squinting appearance as if feeling sleepy.
2.
Consciousness - During the episode, she is aware of what is happening; her consciousness and hearing are normal, but she cannot control her limbs or eyes.
She can see what is in front of her but cannot grasp the correct distance, and she does not feel particularly uncomfortable, just a bit tired.
3.
Focal motor seizures - The corner of her mouth may slightly distort upward for a few seconds.
Occasionally, there may be a few seconds of twitching at the corner of her mouth.
Postictal symptoms - After resting for about half an hour, she gradually recovers.
Interictal symptoms - When walking, she appears to be unsteady, like someone who is drunk, often bumping into parked cars.
She has amblyopia and myopia, and when sleeping, her eyes may open about one-third, resembling the historical figure Zhang Fei, with one eye appearing different from the other.
Possible diagnosis - Focal motor epilepsy combined with minimal brain damage or cerebral palsy.
Recommendation - Consult a neurologist and undergo neurological examinations, EEG, and CT scan.
Any neurologist can be consulted for evaluation.
Reply Date: 2005/08/17
More Info
The symptoms described for your sister are quite complex and suggest a potential neurological issue. Based on the information provided, it appears that she experiences episodes characterized by visual disturbances, altered eye movements, and motor control issues, which may resemble a form of seizure or a transient neurological event.
The fact that she is aware of her surroundings during these episodes and can recall what happens suggests that she may not be experiencing a typical seizure, which often involves a loss of consciousness. Instead, her symptoms could be indicative of a condition known as "focal seizures" or "simple partial seizures," where the individual retains awareness but experiences abnormal movements or sensations.
Another possibility is that she could be experiencing episodes of "transient ischemic attacks" (TIAs), which are temporary episodes of neurological dysfunction caused by a lack of blood flow to the brain. TIAs can present with sudden onset of symptoms similar to those you described, including visual disturbances and motor control issues. However, TIAs typically last for a shorter duration and resolve completely, which aligns with your sister's experience of recovering after resting.
Given her history of strabismus (crossed eyes) and amblyopia (lazy eye), it is also essential to consider whether there is an underlying ocular or neurological condition contributing to her symptoms. The fact that she has a history of fainting in the sun could suggest a potential vascular issue or autonomic dysfunction, which might also play a role in her episodes.
To address your concerns, it would be advisable for her to see a neurologist who specializes in epilepsy or movement disorders. A comprehensive evaluation, including advanced imaging studies like an MRI or CT scan of the brain, may be necessary to rule out structural abnormalities or lesions. Additionally, a thorough review of her medical history, including any potential triggers for her episodes, will be crucial in forming a diagnosis.
In the meantime, keeping a detailed diary of her episodes, including the duration, frequency, and any potential triggers, can provide valuable information for her healthcare provider. This documentation may help in identifying patterns that could lead to a more accurate diagnosis.
In summary, while the exact nature of your sister's condition remains unclear, her symptoms warrant further investigation by a specialist. A neurologist will be best equipped to explore the potential causes of her episodes and recommend appropriate diagnostic tests and treatment options. It is essential to approach this situation with care, as understanding the underlying cause is key to managing her symptoms effectively.
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