Understanding Ectodermal Dysplasias: Diagnosis, Care, and Management Tips
Ectodermal Dysplasias 1. Can the diagnosis of Ectodermal Dysplasias be established solely based on symptoms and the child's appearance? 2. Is genetic testing necessary to confirm the diagnosis? 3. Are there differences between anhidrotic and hydrotic Ectodermal Dysplasias? H...
Dr. Zhao Meiqin Reply:
Ectodermal dysplasia refers to the abnormal development of ectodermal tissues such as hair, nails, sweat glands, teeth, and the respiratory or digestive systems. It can be classified into two major categories based on sweat gland development. Most patients exhibit a range of clin...[Read More] Understanding Ectodermal Dysplasias: Diagnosis, Care, and Management Tips
Understanding Ichthyosis: Symptoms, Prognosis, and Treatment Insights
Regarding ichthyosis? Hello Dr. Zhao: I would like to ask about the initial symptoms of ichthyosis, such as... and so on? If someone has ichthyosis, how long can they expect to live? Is it treatable? How long does it typically take for the condition to fully manifest on every par...
Dr. Zhao Meiqin Reply:
Hello Yu-Chen: If your home is in Kaohsiung, would it be convenient for you to visit the Genetic Counseling Center at Kaohsiung Medical University? Patients with ichthyosis can have varying degrees of clinical symptoms, and it would be better for you to discuss this directly with...[Read More] Understanding Ichthyosis: Symptoms, Prognosis, and Treatment Insights
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 Color Blindness: Genetic Risks for Your Children
Color blindness issues Consultation content: Hello Dr. Chien, I would like to ask you... My grandmother has color blindness, and both of my uncles also have color blindness. My mother does not have color blindness (she is likely a carrier), and I do not have color blindness eithe...
Dr. Jian Yingxiu Reply:
In terms of X-linked inheritance patterns, your mother could be a carrier or she could be unaffected. If she is unaffected, the probability of your children having the same genetic disorder would be the same as that of the general population. If your mother is a carrier, you have...[Read More] Understanding Color Blindness: Genetic Risks for Your Children
Is This Rare Disease Bubble Boy Syndrome? Understanding Symptoms and Next Steps
Is this a rare disease called Bubble Boy Disease? Hello, I just gave birth to a baby girl. She has been developing blisters in areas prone to friction, such as her hands, feet, and armpits. She is currently under observation in the hospital. The doctor informed me that she may ha...
Dr. Jian Yingxiu Reply:
Performing anesthesia and a biopsy on a newborn girl who is just over ten days old is generally safe. Pediatricians at most medical centers have sufficient experience to carry out the procedure and are adequately equipped to manage any potential complications that may arise. As f...[Read More] Is This Rare Disease Bubble Boy Syndrome? Understanding Symptoms and Next Steps
Understanding Wilson's Disease: Symptoms, Diagnosis, and Military Exemptions
Wilson's disease Hello, doctor. It seems that someone in my family has similar symptoms, and I have also had a blood test. My copper level is 725, and one type of protein is at 20, which I believe is normally between 25 and 40. The doctors say that my level is low and that I...
Dr. Jian Yingxiu Reply:
Please discuss with your physician whether further laboratory diagnostics are needed for confirmation.[Read More] Understanding Wilson's Disease: Symptoms, Diagnosis, and Military Exemptions
Caring for Newborns Diagnosed with Propionic Acidemia: Symptoms and Guidance
If a newborn is diagnosed with propionic acidemia, what should be done? If a baby is diagnosed with propionic acidemia, what symptoms might they exhibit and how should they be cared for?
Dr. Jian Yingxiu Reply:
Newborns should be monitored for symptoms such as poor appetite, feeding difficulties, vomiting, respiratory distress, and decreased activity levels. If there are any abnormalities in their feeding, prompt medical attention should be sought to provide appropriate treatment for co...[Read More] Caring for Newborns Diagnosed with Propionic Acidemia: Symptoms and Guidance
Dietary Management and Genetic Insights for Adrenoleukodystrophy (ALD) Patients
Adrenoleukodystrophy Hello, doctor! How should patients with ALD manage their diet? Why is it necessary to control it? Where is the defective gene located in patients? What are the sources of long-chain fatty acids in the human body? Why is the effect of using liquid fatty acids ...
Dr. Jian Yingxiu Reply:
The purpose of dietary management in patients with Adrenoleukodystrophy (ALD) is to reduce the accumulation of very long-chain fatty acids in the body. However, the pathogenic mechanism of ALD involves more than just the accumulation of very long-chain fatty acids, thus further r...[Read More] Dietary Management and Genetic Insights for Adrenoleukodystrophy (ALD) Patients
Exploring Treatment Options for Adrenoleukodystrophy in Taiwan
Adrenal medullary sclerosis Doctor: I have significant questions regarding ALD... Are there any treatment options being explored for this condition in Taiwan? Although it is rare and has a prevalence of one in a hundred thousand... what if someone in Taiwan were to develop it? Is...
Dr. Jian Yingxiu Reply:
The current standard treatment is bone marrow transplantation, while other medications or gene therapies have not yet been proven effective or implemented.[Read More] Exploring Treatment Options for Adrenoleukodystrophy in Taiwan
Understanding Hepatitis: Symptoms, Treatment, and Recovery Insights
Hepatitis I have a female friend who previously had a fatty liver and after treatment, it improved. However, she is now experiencing fatigue and excessive sleepiness. Is this phenomenon related to liver disease? What is acute hepatitis, and is it treatable? Can it be cured? Thank...
Dr. Lin Qingyuan Reply:
Hello: I need to see the patient. Please bring the patient to my outpatient clinic. I am in Room 201 at Chang Gung Children's Hospital. My clinic hours are Monday and Wednesday evening (5:00 PM to 9:00 PM) and Friday afternoon (starting at 2:00 PM). Professor Lin Ching-Yuan.[Read More] Understanding Hepatitis: Symptoms, Treatment, and Recovery Insights
Understanding Otosclerosis: Managing Tinnitus and Treatment Timing
Otosclerosis...tinnitus Dr. Hou: Hello! Thank you for taking the time to clarify my concerns amidst your busy schedule. Recently, I visited a doctor due to hearing issues in my left ear, and the diagnosis was otosclerosis. To be cautious, I sought a second opinion at another hosp...
Dr. Hou Jiawei Reply:
Otosclerosis is an autosomal dominant hereditary hearing disorder characterized by progressive hearing loss that typically begins in young adulthood, affecting both ears in most cases. Symptoms include: 1. Progressive hearing loss: Early hearing loss primarily occurs in the low f...[Read More] Understanding Otosclerosis: Managing Tinnitus and Treatment Timing
Understanding Kawasaki Disease: Managing Persistent Knee Pain in Children
Kawasaki disease <<knee pain>> Continuous fever... My son (2 years and 11 months) has been diagnosed with Kawasaki disease. After receiving treatment (intravenous immunoglobulin), he has been taking 1.7 ml of aspirin daily for a month. Previously, for 2.5 weeks, he ex...
Dr. Chen Jiayu Reply:
First of all, I deeply sympathize with the child YK/1/35 who has been diagnosed with Kawasaki disease. However, since I have not seen the child in person, I cannot make any assumptions about the child's condition. Therefore, I can only provide some suggestions based on the c...[Read More] Understanding Kawasaki Disease: Managing Persistent Knee Pain in Children
Understanding Werner Syndrome: Is It a Form of Progeria?
Wolff-Parkinson-White Syndrome Is Werner syndrome the same as progeria? Is it classified as a rare disease?
Dr. Chen Shunsheng Reply:
沃斯症候群的英文名稱是 "Wolff-Parkinson-White Syndrome"。[Read More] Understanding Werner Syndrome: Is It a Form of Progeria?
Understanding ALS: Is There a Cure for This Rare Disease?
Amyotrophic Lateral Sclerosis (ALS) Hello Dr. Chen: I have a question I would like to ask you. Is amyotrophic lateral sclerosis (ALS) a rare disease? Is there a treatment for it? I have heard that this disease progressively worsens; is that true? Does it lead to the atrophy of al...
Dr. Chen Shunsheng Reply:
Please visit the Kaohsiung Chang Gung Memorial Hospital Department of Neurology website at http://www.cgmh.org.tw or discuss related topics within this system, including the title on Amyotrophic Lateral Sclerosis (ALS).[Read More] Understanding ALS: Is There a Cure for This Rare Disease?
Understanding Rare Childhood Mental Health Disorders: A Case Study
Childhood Mental Disorders Wei-Wei is currently 10 years old. Since childhood, she has been diligent in her tasks, focused in her studies, and has performed well academically with no behavioral issues. However, starting in the fourth grade, her grades began to decline. Her backpa...
Dr. Lin Guanglin Reply:
It could be Tourette syndrome, but other conditions need to be ruled out. Please visit a pediatric neurology clinic.[Read More] Understanding Rare Childhood Mental Health Disorders: A Case Study
Understanding Agenesis of the Corpus Callosum: Risks and Recommendations for Expecting Mothers
Corpus callosum dysgenesis Dear Dr. Lin, My wife is currently 30+ weeks pregnant and is undergoing prenatal check-ups with Dr. Jiang Qixin at Chang Gung Memorial Hospital. A 3D ultrasound has revealed an enlargement of the ventricles measuring 2.58 cm by 1.78 cm, raising concern...
Dr. Lin Guanglin Reply:
I do not have in-depth research on fetal ultrasound, but you can ask your attending physician. Agenesis of the corpus callosum is a type of congenital brain malformation, and the severity of the condition can range from mild to severe.[Read More] Understanding Agenesis of the Corpus Callosum: Risks and Recommendations for Expecting Mothers
Understanding Rare Skull Conditions: Seeking the Right Specialist
Cranium My aunt is in her 50s. Last year, it was discovered that a small area in the center of her skull had become soft. However, the hospital was unable to determine the cause, and the area continues to expand. What could be the reason, and which specialty should she consult?
Dr. Hou Zhigong Reply:
Due to Dr. Hou Chih-Kung being abroad for further studies (from January 1, 2005, to December 31, 2005), Dr. Yeh Po-Hsiu from our Neurology Department will respond. The recommendation is to consult with the Neurosurgery Department to confirm whether there are any cranial abnormali...[Read More] Understanding Rare Skull Conditions: Seeking the Right Specialist
Understanding Ichthyosis Vulgaris: Symptoms, Causes, and Care Tips
Ichthyosis vulgaris Hello, doctor. I would like to ask what clownfish ichthyosis (not sure if the name is correct) is, including its causes, symptoms, complications, and daily care. I am unsure how to care for my 2-month-old baby with this condition. Where else can we find inform...
Dr. Hou Jiawei Reply:
The formal name for clownfish ichthyosis is ichthyosis vulgaris. It is an autosomal recessive genetic disorder with a recurrence rate of 1 in 4. The main symptoms include generalized thickened skin, scaling, and cracking. Complications may include eversion of the lips and eyelids...[Read More] Understanding Ichthyosis Vulgaris: Symptoms, Causes, and Care Tips
Understanding Muscle Twitches: Is It a Sign of ALS?
Muscle twitching Hello Dr. Chen: I experienced muscle twitching between April and May of last year. It started in the web of my hand, and then I noticed that muscles all over my body would twitch intermittently and at various locations. This has been going on for almost a year, a...
Dr. Chen Shunsheng Reply:
Your questions are answered as follows: 1. Is muscle twitching in ALS necessarily caused by dead muscle? If so, will the twitching muscles also show atrophy? (I have not noticed atrophy or weakness in the twitching muscles.) Answer: Typically, muscle atrophy should be present....[Read More] Understanding Muscle Twitches: Is It a Sign of ALS?
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