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 Rare Disease
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
Is Adrenoleukodystrophy Considered a Chronic Disease?
Regarding Adrenoleukodystrophy (ALD) Is adrenal leukodystrophy considered a chronic disease?
Dr. Jian Yingxiu reply Rare Disease
Congenital metabolic disorders (52) are classified as chronic diseases.[Read More] Is Adrenoleukodystrophy Considered a Chronic Disease?
Understanding the Symptoms and Conditions of Cast Baby Disease
What is the condition known as "cast baby"? I would like to ask what kind of condition "cast baby" refers to, and what are some of its symptoms or characteristics?
Dr. Jian Yingxiu reply Rare Disease
Hereditary cytoplasmic body myopathy (also known as "cast baby syndrome")[Read More] Understanding the Symptoms and Conditions of Cast Baby Disease
Understanding Marfan Syndrome Symptoms and Important Considerations
Marfan syndrome symptoms Marfan syndrome is a genetic disorder that affects the body's connective tissue. Symptoms may vary widely among individuals, but common signs include: 1. **Tall Stature**: Individuals often have a tall and slender build. 2. **Long Limbs and Fingers*...
Dr. Jian Yingxiu reply Rare Disease
Marfan Syndrome[Read More] Understanding Marfan Syndrome Symptoms and Important Considerations
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 Rare Disease
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
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 Rare Disease
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
Essential Care Tips for Managing Wilson's Disease in Daily Life
How to care for individuals with Wilson's disease? What care considerations should be taken into account in daily life?
Dr. Jian Yingxiu reply Rare Disease
Please refer to the genetic disease counseling service window for information on Wilson disease (http://www.genetic-counseling.com.tw) or the Wilson Disease Association.[Read More] Essential Care Tips for Managing Wilson's Disease in Daily Life
Understanding Poland Syndrome: Hereditary Factors and Prevention
Poland Syndrome Hello, Doctor: I would like to ask if Poland syndrome is hereditary? Also, is sequence malformation hereditary? If so, how can it be prevented?
Dr. Jian Yingxiu reply Rare Disease
Poland syndrome is currently considered an autosomal dominant condition, with some familial cases reported where parents have passed it on to their children; however, the specific genetic mutations involved are not yet well understood. As for sequence anomalies, they encompass a ...[Read More] Understanding Poland Syndrome: Hereditary Factors and Prevention
Is Aniridia the Same as Disorder 68: No Iris Syndrome?
Aniridia is equivalent to condition number 68, which refers to aniridia syndrome? 1. Is aniridia the same as condition number 68, which is aniridia syndrome? 2. I have this condition, but my parents do not. This condition is autosomal dominant, and I am concerned about passing it...
Dr. Jian Yingxiu reply Rare Disease
1. Aniridia does not equate to aniridia syndrome type 68. 2. Currently, there are known genes associated with this condition; please visit the genetic counseling clinic at major hospitals for consultation.[Read More] Is Aniridia the Same as Disorder 68: No Iris Syndrome?
Understanding Rare Genetic Disorders in Newborns: A Case Study
Neonatal apnea? Hello, my daughter was born on August 11, 2004, via cesarean section because she did not turn head-down in the womb. At birth, she was not moving and was not breathing, requiring intubation for resuscitation. To this day, she still relies on a ventilator for breat...
Dr. Jian Yingxiu reply Rare Disease
The situation with your baby is primarily due to the inability to breathe spontaneously, which can be caused by various factors. Genetic abnormalities may also be one of the potential causes. Please discuss the current tests and diagnosis with your treating physician. Thank you.[Read More] Understanding Rare Genetic Disorders in Newborns: A Case Study
Effective Treatments and Medications for Wilson's Disease Management
The medications used for the treatment of Wilson's disease? Is there a specific treatment for Wilson's disease today? What medications are available for the condition?
Dr. Jian Yingxiu reply Rare Disease
Wilson's disease treatment aims to reduce copper levels in tissues to normal. In this regard, chelating agents such as penicillamine (Cuprimine, Depen) have shown significant effects in most patients. Additionally, trientine (Syprine) can also be considered. It is important ...[Read More] Effective Treatments and Medications for Wilson's Disease Management
Seeking Help for My Cousin's Tourette Syndrome: Treatment Options Explored
Can the doctors please help me? Dear Doctor, My 14-year-old cousin has been diagnosed with Tourette syndrome. After undergoing medication treatment, his condition has not improved and seems to be worsening. I came across information online about the so-called "Yale Univers...
Dr. Jian Yingxiu reply Rare Disease
The treatment for Tourette syndrome primarily relies on medication. If the medication is not effective, other new drugs may be considered, as well as surgical options or electrical stimulation methods. Regarding the injection of immunoglobulin, recent placebo-controlled double-bl...[Read More] Seeking Help for My Cousin's Tourette Syndrome: Treatment Options Explored
Understanding Crouzon Disease: Symptoms, Treatment, and Genetic Implications
Crouzon disease is a genetic disorder characterized by I have had prominent eyes since childhood, with a sunken midface, wide-set eyes, a flat nose, and underdeveloped upper jaw leading to malocclusion. Recently, I visited Chang Gung Hospital to correct my teeth, and the dentist ...
Dr. Jian Yingxiu reply Rare Disease
Please seek assistance from a pediatric genetic specialist at the genetic counseling clinic. Thank you.[Read More] Understanding Crouzon Disease: Symptoms, Treatment, and Genetic Implications
Understanding Involuntary Limb Movements: Possible Rare Disorders Explained
Involuntary limb movements? My girlfriend occasionally experiences involuntary movements of her limbs while walking, and even her body or neck may twist! She mentioned that she and her brother have noticed this condition since childhood, but they do not know the cause, and it has...
Dr. Jian Yingxiu reply Rare Disease
Generally speaking, if the symptoms have been present since childhood, they are likely not related to Huntington's disease, but rather may be attributed to Tourette syndrome or other issues. Thank you.[Read More] Understanding Involuntary Limb Movements: Possible Rare Disorders Explained
Understanding Carnitine-Acyl Carnitine Translocase Deficiency in Infants
Xu Xu has been diagnosed with a rare disease..? A friend's child, Xu Xu, has been diagnosed with a rare congenital metabolic disorder known as carnitine-acylcarnitine translocase deficiency. The symptoms include "seizures," "developmental delays," "l...
Dr. Jian Yingxiu reply Rare Disease
Xu Xu does not have carnitine-acylcarnitine translocase deficiency; the details have been explained to the parents.[Read More] Understanding Carnitine-Acyl Carnitine Translocase Deficiency in Infants
Exploring New Treatments for Vitiligo: Can Taiwan Keep Up?
Epilepsy Vitiligo has long been considered a condition caused by genetic defects, but researchers at the China Academy of Chinese Medical Sciences in Beijing have developed a potential cure! Is Taiwan currently capable of providing a cure, or is seeking treatment only possible in...
Dr. Jian Yingxiu reply Rare Disease
Please consult your dermatologist for an accurate diagnosis and the latest treatment options.[Read More] Exploring New Treatments for Vitiligo: Can Taiwan Keep Up?
Understanding Porphyria: A Guide for Patients and Families
Porphyria This patient is a 21-year-old male who presented with abdominal pain, and the emergency department at Cathay General Hospital confirmed a "suspected porphyria." The family is unsure which specialist to consult, so they have requested Dr. Jian's assistance...
Dr. Jian Yingxiu reply Rare Disease
Thank you.[Read More] Understanding Porphyria: A Guide for Patients and Families
Understanding Arteriovenous Malformations: Causes and Genetic Links
Arteriovenous malformation (AVM) Hello Dr. Jian: May I ask you, what are the causes of arteriovenous malformations? Do they have a hereditary component? If one parent has hereditary varicose veins and vascular malformations (commonly known as port-wine stain hemangiomas), could t...
Dr. Jian Yingxiu reply Rare Disease
The exact cause of arteriovenous malformations (AVMs) is currently unclear. AVMs associated with certain syndromes may be hereditary, while the commonly known capillary malformation (port-wine stain) typically does not lead to hereditary AVMs in the next generation. A detailed as...[Read More] Understanding Arteriovenous Malformations: Causes and Genetic Links
Understanding Muscle Wasting Disease in Children: Treatment and Prevention Tips
Sarcopenia What is the likelihood of a 10-year-old boy with muscular dystrophy not having a successful treatment? Additionally, how can we prevent the condition from worsening? Please help us.
Dr. Jian Yingxiu reply Rare Disease
Please follow up with your physician for regular check-ups and rehabilitation therapy. For more information, please refer to the genetic disease counseling window at (http://www.genetic-counseling.com.tw) under the disease introduction section for "Duchenne/Becker Muscular D...[Read More] Understanding Muscle Wasting Disease in Children: Treatment and Prevention Tips
Unexplained Cold-Like Symptoms: Seeking Answers for Persistent Illness
Symptoms similar to a cold have persisted for a long time? Hello Doctor: My symptoms are quite strange. I seem to have a cold, with persistent fever that subsides after taking medication. Initially, I experienced chills and felt cold, and this has been going on for two weeks. Tod...
Dr. Jian Yingxiu reply Rare Disease
The term "examination" does not necessarily refer to a comprehensive health check-up. Please consult an internal medicine physician; if necessary, tests related to your symptoms are covered by health insurance.[Read More] Unexplained Cold-Like Symptoms: Seeking Answers for Persistent Illness