Seeking Answers: Unexplained Symptoms of a Rare Illness

Unknown etiology

A student is currently hospitalized elsewhere, but the cause of their illness remains undetermined.
The symptoms are generally as follows:
1.
Incoherent expression (repetitive, non-fluent, but with intact comprehension; sentences are fragmented and mixed with other sentences).
2.
Overlapping memory issues.
3.
Can write with a pen and usually can convey meaning, but struggles to recall how to write certain words and can also create simple illustrations while speaking.
4.
Hearing loss (unable to hear sounds).
5.
Vision is intact (can see).
6.
Not eating or drinking (has become extremely emaciated).
7.
Severe headaches (intermittent).
8.
Left hand is stiff and has lost sensation (sensation returned after two days).
An EEG showed white shadows in the temporal lobe, but it is unclear what they are.
This student previously had a similar finding in the occipital lobe during an EEG, with symptoms of loss of peripheral vision.
Additionally, in February of this year, they experienced a situation where, upon shifting focus while holding something, they would release it and drop it (this occurred for a period).
However, there was improvement after taking antiepileptic medication (the student does not have symptoms of epilepsy).

Please, if you have information on similar diseases, contact us.
Thank you.
Our contact email is: [email protected]

LITTLEWAI, 20~29 year old female. Ask Date: 2006/07/08

Dr. Chen Shunsheng reply Rare Disease

Your classmate's neurological examination presents the following features: 1.
Recurrent neurological symptoms 2.
Abnormalities affecting multiple areas of the nervous system: occipital lobe, temporal lobe, frontal lobe, visual or auditory pathways, etc.
3.
Symptoms particularly involving the visual, auditory, language areas, as well as motor and sensory pathways.
My first thought would be multiple sclerosis; this should be considered carefully.
Of course, other conditions such as mitochondrial encephalomyopathy also need to be considered.
Please arrange for a neurology consultation or examination as soon as possible.

Reply Date: 2006/07/08

More Info

The symptoms described for your classmate present a complex neurological picture that warrants careful consideration. The combination of cognitive difficulties, memory issues, sensory loss, and intermittent severe headaches suggests a multifaceted neurological disorder. Given the symptoms, it is crucial to explore various potential diagnoses, including but not limited to multiple sclerosis (MS) and mitochondrial encephalomyopathy.

Understanding the Symptoms
1. Cognitive and Language Difficulties: The issues with expressing thoughts clearly, including repetition and fragmented sentences, may indicate involvement of the language centers in the brain, particularly if the left hemisphere is affected. This could be linked to conditions that impact cognitive function, such as MS or other neurodegenerative diseases.

2. Memory Overlap: The overlapping memory issues could suggest a form of cognitive impairment or a disruption in the neural pathways responsible for memory processing. This symptom could also be indicative of a seizure disorder, particularly if the patient has experienced episodes of altered consciousness.

3. Writing Difficulties: The ability to write but struggling with specific words points to possible aphasia or dysgraphia, which can occur in various neurological conditions. The use of simple drawings to communicate suggests that while expressive language is impaired, comprehension remains intact.

4. Hearing Loss: The inability to hear could be related to auditory processing issues or peripheral auditory nerve damage. This symptom, combined with other neurological signs, raises the possibility of a central nervous system disorder.

5. Visual Function: The preserved ability to see, alongside previous episodes of visual field loss, suggests that there may be intermittent issues affecting the visual pathways, potentially linked to demyelinating conditions like MS.

6. Severe Weight Loss and Anorexia: The refusal to eat and significant weight loss is concerning and could be a result of neurological impairment affecting appetite regulation or a psychological response to the illness.

7. Intermittent Severe Headaches: The presence of severe headaches could indicate increased intracranial pressure, migraines, or other forms of headache disorders, which are common in various neurological conditions.

8. Left Hand Weakness and Sensory Loss: The transient loss of sensation and stiffness in the left hand could suggest a focal neurological deficit, possibly due to lesions in the brain affecting motor and sensory pathways.

Diagnostic Considerations
The EEG findings showing white matter changes in the temporal lobe are particularly significant. These changes could indicate demyelination, which is characteristic of multiple sclerosis. MS is a chronic autoimmune condition where the immune system attacks the protective myelin sheath covering nerve fibers, leading to a variety of neurological symptoms.

Other conditions to consider include:
- Mitochondrial Encephalomyopathy: This group of disorders affects the mitochondria, leading to muscle weakness and neurological symptoms.

- Autoimmune Encephalitis: This condition involves inflammation of the brain and can present with cognitive dysfunction, seizures, and other neurological symptoms.

- Neurodegenerative Disorders: Conditions like frontotemporal dementia or Alzheimer's disease could also present with similar symptoms, particularly in younger individuals.

Next Steps
It is crucial for your classmate to undergo a thorough neurological evaluation, including advanced imaging studies (like MRI) and possibly lumbar puncture for cerebrospinal fluid analysis. A referral to a neurologist specializing in rare and complex neurological disorders would be beneficial. Given the complexity of the symptoms, a multidisciplinary approach involving neurologists, psychologists, and possibly rehabilitation specialists may be necessary to provide comprehensive care.

In conclusion, while the symptoms are concerning and suggest a serious underlying condition, further investigation is essential to arrive at a definitive diagnosis and appropriate treatment plan. If you or your classmate have any further questions or need assistance, please feel free to reach out.

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