Understanding 15q11.2 Microdeletion Syndrome: Risks and Considerations
15q11.2 microdeletion on amniotic fluid chip? Chromosomal microarray (750K SNP Array) screening report analysis results: arr|GRCh38| 15q11.2(22582282_23370622)x1. The male subject has a microdeletion of approximately 788 kb in the long arm of chromosome 15 at the q11.2 region. Th...
Dr. Jian Yingxiu Reply:
Hello: It is advisable to consult this report in conjunction with the results from the parents. Please bring the reports of all three individuals to the genetic counseling clinic at any medical center for an in-person discussion.[Read More] Understanding 15q11.2 Microdeletion Syndrome: Risks and Considerations
Impact of Chromosome 16p13.11 Deletion on Fetal Development and Screening
Amniotic fluid chromosome 16p13.11 microdeletion (15048751_16249607) approximately 1.20MB? Hello, this amniotic fluid chip has confirmed a primary mutation. I would like to ask if there are any case numbers in Taiwan that can be referenced regarding the impact of this deletion on...
Dr. Jian Yingxiu Reply:
The 16p13.11 microdeletion is currently known to potentially cause developmental delays, learning disabilities, or epilepsy; however, there are also reports of asymptomatic cases. Therefore, it is not a condition with a 100% penetrance. Additionally, since the range and size of t...[Read More] Impact of Chromosome 16p13.11 Deletion on Fetal Development and Screening
Understanding Infantile Spasms: Treatment Options and Success Stories
Infantile spasms Hello Doctor: The child experienced infantile spasms at 3 months old. An MRI showed no abnormalities, ruling out tuberous sclerosis. Blood and urine tests were normal. The child is currently receiving vitamin B supplementation, oral vigabatrin, steroid injections...
Dr. Chen Shunsheng Reply:
Infantile spasms can be diagnosed and treated by pediatric neurologists. Other issues require a personal examination before providing answers, so it is recommended to consult the child's pediatric neurologist directly.[Read More] Understanding Infantile Spasms: Treatment Options and Success Stories
Understanding Rare Neurological Disorders: From Dystonia to Sleep Issues
Facial nerve palsy, extrapyramidal syndrome, chorea, Parkinson's disease, epilepsy? Doctor, I have been suffering from this illness for a long time—vertebral body syndrome, chorea, Parkinson's disease, epilepsy. I didn't mean to come into contact with amphetamines,...
Dr. Lai Xiangrong Reply:
What is your main issue? The likelihood of young-onset Parkinson's disease is very low, and chorea and epilepsy are completely different conditions. Sleep is another issue, and dependence on amphetamines is also a concern. You should first go to the hospital to address your ...[Read More] Understanding Rare Neurological Disorders: From Dystonia to Sleep Issues
Understanding Rare Neurological Disorders: Seeking Answers for My Mother's Symptoms
Please provide the content you would like me to translate? My mother has been troubled by frequent hand cramps for nearly ten years. She has been regularly seeing a neurologist in Taichung, but there seems to be no improvement. The neurologist in Taichung diagnosed her with "...
Dr. Lai Xiangrong Reply:
Based on the description in the letter, the frequent muscle cramps in the hands, along with the symptoms of uncontrollable cramps leading to a few minutes of unconsciousness, could potentially indicate epilepsy. Epilepsy is characterized by abnormal electrical discharges in the b...[Read More] Understanding Rare Neurological Disorders: Seeking Answers for My Mother's Symptoms
Understanding Rare Peripheral Neuropathy: Symptoms and Treatment Options
Neuropathy I have primary small fiber neuropathy, and I experience a sensation of electric shock and burning all over my body when exposed to heat, along with an absence of sweating. Various medical centers in the northern region have noted moderate inflammation in the nerve biop...
Dr. Huang Litong Reply:
The current diagnosis and pharmacological treatment are appropriate, with regular follow-ups, and there are no specific treatment methods indicated.[Read More] Understanding Rare Peripheral Neuropathy: Symptoms and Treatment Options
Understanding Rare Brain Disorders: Symptoms and Diagnosis Challenges
Brain diseases My sister had a car accident before, but she was fine, so we didn't pay much attention to it. After a year, one day she suddenly started to react slowly, and then she couldn't recognize who you were or say your name. We took her to the hospital for examin...
Dr. Lai Xiangrong Reply:
Regarding your question, since we have not seen the patient, we cannot make a complete assessment of the EEG. However, the electrodes placed on the scalp can observe the electrical activity of the brain, which is the best auxiliary tool for diagnosing epilepsy, rather than for tr...[Read More] Understanding Rare Brain Disorders: Symptoms and Diagnosis Challenges
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 o...
Dr. Chen Shunsheng Reply:
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 particula...[Read More] Seeking Answers: Unexplained Symptoms of a Rare Illness
Managing Rare Seizures: Treatment Options for Your Friend's Condition
Bloodletting My friend has a congenital intellectual disability. However, he has a condition that causes him to experience intermittent seizures, but they are brief and resolve quickly. What treatment options are available for this condition? Additionally, what methods can help r...
Dr. Lin Guanglin Reply:
Pediatric neurology can perform electroencephalography (EEG), magnetic resonance imaging (MRI) of the brain, and genetic metabolic evaluations to check for metabolic disorders or chromosomal abnormalities. If the diagnosis is epilepsy, treatment with antiepileptic medications is ...[Read More] Managing Rare Seizures: Treatment Options for Your Friend's Condition
Unraveling Rare Illness: Seeking Answers for Mysterious Symptoms
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 he...
Dr. Chen Shunsheng Reply:
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 ma...[Read More] Unraveling Rare Illness: Seeking Answers for Mysterious Symptoms
Understanding Epilepsy: Prevalence, Genetics, and Medication Concerns
Issues related to epilepsy? Hello, Dr. Yeh! I am a patient with mild epilepsy. I used to take medication for over two years, but since I haven't had any seizures afterward, I stopped taking the medication on my own. I know this is wrong, and I will return for a check-up soon...
Dr. Ye Poxiu Reply:
Hello: (1) Only a small portion of epilepsy cases are classified as genetically high-risk epilepsy. Please do not worry. (2) To determine if it falls under genetically high-risk epilepsy, you can consult your attending physician to discuss the causes of your epilepsy in detail. (...[Read More] Understanding Epilepsy: Prevalence, Genetics, and Medication Concerns
Understanding Rare Seizures in Children: Insights on Fever and Epilepsy
Please provide the content you would like me to analyze? Hello, my child has experienced two episodes of fever that resulted in seizures. The last time, the medication stopped the seizure after three minutes, but this time, after two injections, the seizure lasted nearly half an ...
Dr. Lai Xiangrong Reply:
Dear Mr. Yeh, I apologize for the delayed response to your question regarding the diagnosis of epilepsy. The primary basis for diagnosing epilepsy includes clinical symptoms (such as the observed manifestations), electroencephalogram (EEG) results, age, and potential causes of o...[Read More] Understanding Rare Seizures in Children: Insights on Fever and Epilepsy
Understanding Tuberous Sclerosis: Genetic Risks and Family Planning
Tuberous Sclerosis Complex (TSC) Hello Doctor: I am about to get married, but there are two individuals in my fiancé's family who have similar conditions to epilepsy (though it is unclear if they have tuberous sclerosis). Additionally, his sister has been confirmed to have t...
Dr. Jian Yingxiu Reply:
If it is confirmed that it is tuberous sclerosis, which is an autosomal dominant genetic disorder, if your husband is the affected individual, there is a 50% chance that your children will inherit this gene. However, since your husband's condition is unknown, it is best for ...[Read More] Understanding Tuberous Sclerosis: Genetic Risks and Family Planning
Understanding Rare Neurological Symptoms: Seeking Medical Advice
Please let me know what specific medical issue or concern you would like me to assist you with? Hello Doctor, I would like to ask a question. Since high school, I have experienced a strange phenomenon where my left side sometimes suddenly becomes stiff, and I involuntarily clench...
Dr. Chen Shunsheng Reply:
It may be Paroxysmal Kinesigenic Choreoathetosis (PKC), but please consult a neurologist for diagnosis and treatment. Paroxysmal Kinesigenic Choreoathetosis, as the name suggests, is characterized by paroxysmal and sudden episodes that occur when a person initiates movement, su...[Read More] Understanding Rare Neurological Symptoms: Seeking Medical Advice
Caring for a Child with Angelman Syndrome: Insights and Guidance for Parents
A Happy Child at Home - Angelman Syndrome Hello, I have a question. My son is currently four years old and was diagnosed with Angelman syndrome just last month. Previously, doctors had told me he was experiencing growth delays, and he also has epilepsy. He has been hospitalized f...
Dr. Jian Yingxiu Reply:
This condition is often sporadic, as it requires specialized testing such as methylation-specific polymerase chain reaction (PCR) for genetic analysis to be detected. Therefore, it is possible that previous evaluations did not include such specialized tests, leading to an inadequ...[Read More] Caring for a Child with Angelman Syndrome: Insights and Guidance for Parents
Can My Daughter with Multiple Sclerosis Compete in Tug-of-War?
I want to let her participate in a tug-of-war competition? Hello Dr. Lin: I am currently facing a dilemma. She has multiple sclerosis complicated by epilepsy. Since her daughter is starting elementary school this year, the school is organizing a sports day, and they want to parti...
Dr. Lin Guanglin Reply:
In cases of tuberous sclerosis complex associated with epilepsy, participation in normal physical activities is generally not prohibited, depending on the control of the condition. Every situation has two sides, and decisions should be made considering the child's usual stre...[Read More] Can My Daughter with Multiple Sclerosis Compete in Tug-of-War?
Understanding Rare Diseases: Is My Daughter's Condition Tourette Syndrome?
Heart My daughter is 12 years old. Last summer, her right leg started to shake involuntarily. The duration varies; sometimes it stops after 5 minutes, and other times it can last for 25 hours. All physical examinations have come back normal. Could this be Tourette syndrome?
Dr. Chen Shunsheng Reply:
The following conditions can cause tremors in the hands and feet: 1. Tourette syndrome 2. Focal motor epilepsy 3. Peripheral nerve dysfunction: Often seen in various early peripheral neuropathies, commonly accompanied by muscle cramps or twitching symptoms 4. Essential tremor: A ...[Read More] Understanding Rare Diseases: Is My Daughter's Condition Tourette Syndrome?
Understanding Focal Cortical Dysplasia: A Rare Condition in Children
Localized cortical sclerosis of the posterior brain? The 13-year-old girl is currently in the first year of junior high school. She experienced seizures after the age of 12 (treated at Chiayi Christian Hospital). During those months, she had frequent seizures, which later transfo...
Dr. Hou Zhigong Reply:
Dear Parents, Your daughter has been diagnosed with epilepsy and visual impairment (difficulty seeing), along with cortical sclerosis in the occipital lobe of the brain. Cortical sclerosis is a radiological term that often leads to various neurological disorders, such as seizure...[Read More] Understanding Focal Cortical Dysplasia: A Rare Condition in Children
Understanding Epilepsy: Seeking Diagnosis and Resources After a Seizure
Epilepsy A few days ago, I visited a clinic due to nasal congestion and reflux symptoms. After receiving injections of Dexamethasone and Ketoprofen from the nurse, I experienced dizziness and lost consciousness before I could inform anyone. After being treated, the doctor told me...
Dr. Ye Poxiu Reply:
(1) In simple terms, a diagnosis of epilepsy can be made if a patient experiences multiple episodes of similar seizures or altered consciousness, and other causes such as drug effects or metabolic disorders have been ruled out. (2) An accurate diagnosis of epilepsy relies on a th...[Read More] Understanding Epilepsy: Seeking Diagnosis and Resources After a Seizure