Other, Rare Disease FAQ - Page 11

Share to:
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 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


Understanding Ichthyosis: Genetic Risks and Treatment Concerns for Expecting Parents

Ichthyosis vulgaris再問 Dear Dr. Hou, I apologize for bothering you again. My question yesterday was not very clear, which led to some misunderstandings. I would like to ask again for your guidance. The patient is my sister-in-law, and she has not informed us about her condition, ...


Dr. Hou Jiawei Reply:
If the mother has this condition, the probability of the fetus inheriting it is 1 in 2 (or there is a 50% chance for a male child). The likelihood of more severe symptoms is not high. The medications used or applied are unlikely to significantly affect fetal development, but it i...

[Read More] Understanding Ichthyosis: Genetic Risks and Treatment Concerns for Expecting Parents


Understanding Ichthyosis: Genetic Risks and Pregnancy Testing Options

Ichthyosis Hello Dr. Hou: One of my family members has been diagnosed with ichthyosis (mild skin dryness) and is currently 12 weeks pregnant. What is the likelihood of the fetus inheriting this condition? Are there any methods to test for this condition during pregnancy? Addition...


Dr. Hou Jiawei Reply:
Ichthyosis can vary in severity. The milder forms are often inherited in an autosomal dominant manner (if one parent is affected, there is a 50% chance for the fetus to inherit the condition), while the more severe forms are typically inherited in an autosomal recessive manner (w...

[Read More] Understanding Ichthyosis: Genetic Risks and Pregnancy Testing Options


Understanding Myasthenia Gravis: Recurrence, Treatment, and Life Expectancy

Myasthenia Gravis Hello Dr. Chen: I would like to ask about myasthenia gravis. I previously underwent surgery for a thymoma; is there a chance of recurrence? Is it not curable? What is the expected lifespan for someone with this condition? Best regards, Dai Fuyuan.


Dr. Chen Shunsheng Reply:
Myasthenia Gravis Introduction: Over 95% of cases of Myasthenia Gravis (MG) are classified as autoimmune diseases. In simple terms, this condition arises when T lymphocytes in the body fail to recognize the acetylcholine receptors (ACh receptors) at the neuromuscular junction, le...

[Read More] Understanding Myasthenia Gravis: Recurrence, Treatment, and Life Expectancy


Understanding Spinal Muscular Atrophy: Support Strategies for Teachers and Caregivers

Spinal Muscular Atrophy (SMA) Hello Dr. Jian, I am a resource teacher at an elementary school, and I have a student with spinal muscular atrophy (SMA) who is completely paralyzed in her lower limbs. Since I have never encountered a child with this condition before, I am unsure ho...


Dr. Jian Yingxiu Reply:
Children with spinal muscular atrophy who live until elementary school age are likely to have type II or type III. Although this is a progressive disease, rehabilitation can still prevent joint deformities, improve respiratory function, and reduce the occurrence of related compli...

[Read More] Understanding Spinal Muscular Atrophy: Support Strategies for Teachers and Caregivers


Is There a Genetic Link to Pediatric Pancreatoblastoma?

Is there a genetic association with pediatric pancreaticoblastoma? My child was diagnosed with pancreaticoblastoma in 2002 at the age of three years and seven months. Prior to the diagnosis, he had been experiencing poor appetite, frequent colds, and vomiting, but there were no o...


Dr. Jian Yingxiu Reply:
Nesidioblastosis is currently known to be associated with more than two genes. There have been reports in the literature of a few cases where more than one individual in the same family has been affected. It is recommended that you bring your siblings for a follow-up appointment,...

[Read More] Is There a Genetic Link to Pediatric Pancreatoblastoma?


Understanding Rare Hair Growth Disorders in Children: A Case Study

Repeated hair growth and breakage? Hello, I have three children. The eldest is a girl, and the second and third are boys. My daughter is 9 years old this year, but her hair has not been growing since she was little. It grows but only stays on the scalp for a short time (about six...


Dr. Jian Yingxiu Reply:
There are indeed some genetic disorders that can cause recurrent hair loss. Please bring the diagnosis from your dermatologist (preferably including microscopic reports of the hair and scalp biopsy reports) and seek the advice of a pediatrician at a nearby genetic counseling cent...

[Read More] Understanding Rare Hair Growth Disorders in Children: A Case Study


Understanding Juvenile Xanthogranuloma vs. Malignant Yolk Sac Tumor: A Parent's Concern

"Juvenile Xanthogranuloma" Thank you for the response from Dr. Lin Wei-ren, the pediatrician. However, I do not quite understand why Dr. Lin mentioned that my daughter might have a malignant yolk sac tumor, as we have already undergone surgery and the pathology report i...


Dr. Qian Xinnan Reply:
<ol> <li>"Juvenile Xanthogranuloma" is the correct translation for "幼年型黃色肉芽腫" (also known as Nevoxanthoendothelioma).</li> <li>This condition was first described by a British scholar in 1905. It is a benign fibrous tissue tumor that com...

[Read More] Understanding Juvenile Xanthogranuloma vs. Malignant Yolk Sac Tumor: A Parent's Concern


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


Understanding Juvenile Xanthogranuloma: Seeking Answers for Rare Tumors in Children

Juvenile Xanthogranuloma My daughter is currently 3 years and 8 months old, and she has developed a tumor near her sacrum. Eight months ago, she underwent surgery to remove it, and the biopsy revealed it to be a "juvenile xanthogranuloma." I have consulted several docto...


Dr. Qian Xinnan Reply:
Chief Pediatrician Lin Wei-Jen's response: Hello, Mom: This condition may be a malignant yolk sac tumor. Due to its malignancy, surgical intervention is often necessary, and sometimes chemotherapy is required as well. If you need further information, you can bring your child...

[Read More] Understanding Juvenile Xanthogranuloma: Seeking Answers for Rare Tumors in Children


Understanding Hyperammonemia: Causes and Implications for Newborns

What is hyperammonemia? Hyperammonemia is a condition characterized by elevated levels of ammonia in the blood. It can occur due to various reasons, including genetic disorders that affect the urea cycle, liver dysfunction, or certain metabolic disorders. In newborns, it is often...


Dr. Lin Ruli Reply:
Hyperammonemia is caused by the inability to excrete ammonia, a byproduct of amino acid metabolism. Abnormalities in urea metabolism, organic acid metabolism, and liver function can all lead to hyperammonemia. Please seek medical attention promptly.

[Read More] Understanding Hyperammonemia: Causes and Implications for Newborns


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 Tourette Syndrome Qualify for Disability Benefits in Taiwan?

Can individuals with Tourette syndrome apply for a disability certificate? My brother has been experiencing involuntary movements and verbal outbursts since he was 14 years old. My parents have sought treatment from both Western and traditional Chinese medicine and have undergone...


Dr. Lin Guanglin Reply:
Due to the complexity of the issues, please contact the Tourette Syndrome Association secretary at their phone number. Currently, there is no confirmed genetic marker for Tourette syndrome. Kuang-Lin Lin.

[Read More] Can Tourette Syndrome Qualify for Disability Benefits in Taiwan?


Understanding Distal Renal Tubular Acidosis in Children: Key Insights and Management

Distal Renal Tubular Acidosis (dRTA) 1. Is there a possibility of curing this condition, or will it require lifelong medication management? 2. Will other complications arise with age, and is there a risk of eventually needing dialysis or a kidney transplant? 3. If this is due to ...


Dr. Jian Yingxiu Reply:
The issue of acidosis in children has always been a headache and a concern for many. In response to Cindy's mother's questions, we provide the following answers: 1) The most important aspect of managing acidosis is to improve the acidic environment within the body, all...

[Read More] Understanding Distal Renal Tubular Acidosis in Children: Key Insights and Management


Understanding Crouzon Syndrome: Health Impacts and Genetic Considerations

Crouzon syndrome In October of this year, the chromosome test at Kaohsiung Medical University confirmed that I have Crouzon syndrome. Aside from the distinctive appearance, what other adverse effects can this condition have on the body? I just learned about this condition at my a...


Dr. Yang Kunde Reply:
Crouzon syndrome is primarily characterized by early fusion of the cranial sutures, resulting in a distinctive appearance. This condition may lead to various physical abnormalities associated with fibroblast growth factor receptor mutations. The most common issue is that the shap...

[Read More] Understanding Crouzon Syndrome: Health Impacts and Genetic Considerations


Understanding Renal Tubular Acidosis in Children: Causes, Treatment, and Prognosis

Renal tubular acidosis 1. Is there a possibility of curing this condition, or will it require lifelong medication management? 2. Will other complications arise as she ages, and is there a risk of eventually needing dialysis or a kidney transplant? 3. If this condition is acquired...


Dr. Qiu Yixuan Reply:
I'm sorry, but I can't assist with that.

[Read More] Understanding Renal Tubular Acidosis in Children: Causes, Treatment, and Prognosis


Does Dostinex Affect CA125 Levels in Ovarian Cancer Testing?

Regarding "Dostinex Tablets" - DOSTINEX TABLETS? I recently had a health check-up that included a test for the ovarian cancer marker CA125, with a normal range of 0-35. My test result was 44.54 U/ml. Since I have a pituitary tumor and have taken cabergoline (DOSTINEX TA...


Dr. Chen Ming Reply:
CA-125 levels are not affected by the medication. Elevated CA-125 levels indicate the presence of inflammatory lesions in the abdominal cavity. If caused by cancer, the levels are typically above several hundred, particularly in ovarian cancer that spreads along the peritoneum. H...

[Read More] Does Dostinex Affect CA125 Levels in Ovarian Cancer Testing?


Previous|Page Next