Understanding Little Fat Power Syndrome: Managing Excessive Appetite in Children
Little Fatty Syndrome Hello, doctor. My child is 1 year and 2 months old and is a twin. Currently, he is 72 cm tall and weighs 8 kg. It seems that he cannot control his appetite, as he has a very large food intake. For example, at 9 AM for breakfast, he can eat a piece of radish ...
Dr. Lin Xuanpei Reply:
If there is a suspicion of Prader-Willi Syndrome (PWS), it is essential to take the child to a pediatric genetic specialist for a detailed evaluation and specialized genetic testing to confirm the diagnosis. After the diagnosis is confirmed, the specialist will explain the result...[Read More] Understanding Little Fat Power Syndrome: Managing Excessive Appetite in Children
Understanding Osteogenesis Imperfecta: Diagnosis and Treatment Options
Rare Disease Consultation Hello, doctor: What examinations are performed during the initial visit for a patient with Osteogenesis Imperfecta (OI)? What follow-up examinations are conducted afterward? In Taiwan's healthcare system, besides calcium supplements and bisphosphona...
Dr. Lin Ruli Reply:
What examinations are performed during the initial consultation for a patient with Osteogenesis Imperfecta (OI)? After bone density tests, biochemical tests, and X-ray examinations, what follow-up tests are conducted? In Taiwan's healthcare system, aside from calcium supplem...[Read More] Understanding Osteogenesis Imperfecta: Diagnosis and Treatment Options
Understanding Taiwan's Rare Disease Database: Privacy, Security, and Legal Considerations
Taiwan Rare Disease Organization Database Hello Doctor, have you heard about the Rare Disease Organization Database Project in Taiwan? Regarding the storage of specimens and data in the Taiwan Rare Disease Organization Database, is the privacy, security, and legal framework compr...
Dr. Lin Ruli Reply:
Legal survey on issues faced by patients with non-rare diseases.[Read More] Understanding Taiwan's Rare Disease Database: Privacy, Security, and Legal Considerations
Understanding Rare Cases of Nipple Bleeding in Infants
Nipple bleeding in a young girl? My daughter is currently 5 months old. Today I noticed blood coming from her right nipple, which stained her clothes. When I squeezed it, it continued to bleed. I took her to a nearby pediatric clinic, and the doctor suggested monitoring the situa...
Dr. Xu Shanjing Reply:
A physical examination is needed to check for hormonal effects, inflammation, or the presence of tumors. I apologize, but without seeing or examining, I cannot provide an answer. Xu Shanjing.[Read More] Understanding Rare Cases of Nipple Bleeding in Infants
Understanding Wilson's Disease: Causes and Interaction Tips for Caregivers
Wilson's disease Wilson's disease is caused by a genetic mutation that leads to excessive accumulation of copper in the body, particularly affecting the liver and brain. This condition is inherited in an autosomal recessive manner, meaning that a child must inherit two ...
Dr. Jian Yingxiu Reply:
Wilson's disease is caused by abnormal copper ion metabolism in the body, leading to liver and brain damage. Currently, it can be managed with medication and a low-copper diet. Please confirm your diagnosis and treatment plan with your physician. Thank you.[Read More] Understanding Wilson's Disease: Causes and Interaction Tips for Caregivers
Understanding Neck Sinus Tract Issues in Infants: A Rare Condition
Issues with the cervical spine? Hello, doctor. I have a question. When my baby was just one month old, we took her to the hospital. Shortly after her birth, we noticed a small indentation on the left side of her neck that was discharging pus. The doctor diagnosed it as a branchia...
Dr. Cao Longyan Reply:
It is recommended to visit a nearby medical center's pediatric surgery department for disease confirmation. If the pediatric surgery department at the medical center has confirmed the diagnosis, please proceed with treatment as soon as possible to reduce the risk of infectio...[Read More] Understanding Neck Sinus Tract Issues in Infants: A Rare Condition
Understanding Osteogenesis Imperfecta: Neurological Impacts and Concerns
Neurology Hello Doctor: I am a patient with Osteogenesis Imperfecta (OI). In December 2004, I experienced a severe episode of dizziness that lasted for several days, extending over a month, after which it resolved on its own. However, around November 2006 until now, I have had si...
Dr. Chen Shunsheng Reply:
The condition is relatively complex with numerous questions. It is recommended to seek consultation at a medical center in your area, particularly for discussions with specialists in neurosurgery, neurology, and interventional radiology. If necessary, genetic testing may also be ...[Read More] Understanding Osteogenesis Imperfecta: Neurological Impacts and Concerns
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 De Novo Reciprocal Translocation: Implications for Fetal Health
46,XY,t(3;6)(p25;p25) de novo Interpretation: Chromosome analysis of 21 cells cultured from amniotic fluid showed a male karyotype with a reciprocal translocation between chromosome 3 and chromosome 6. The breakpoints were identified at 3p25 and 6p25. The translocation appeared t...
Dr. Jian Yingxiu Reply:
Hello: According to the text, the karyotype analysis did not show any significant increase or decrease in chromosomes. However, since there are chromosomal variations, literature reports suggest there may be a 6-7% chance of associated abnormalities. May I ask what the current ge...[Read More] Understanding De Novo Reciprocal Translocation: Implications for Fetal Health
Exploring New Insights on 11q23 Chromosome Deletion Cases
Are there any cases available for inquiry regarding the deletion of the 11q23 chromosome region? Zhen was born 7 years ago and was diagnosed with a partial deletion of chromosome 11q23 at National Taiwan University Hospital. At that time, there was insufficient literature or symp...
Dr. Jian Yingxiu Reply:
Hello, Ms. Zhen: Based on the literature you have searched, the clinical manifestations associated with the deletion of chromosome 11q23 (also known as Jacobsen syndrome) may include the following for your reference. It is recommended to regularly monitor platelet counts through...[Read More] Exploring New Insights on 11q23 Chromosome Deletion Cases
Understanding Growth Delays in Children: When to Seek Medical Advice
excuse me? Hello Dr. Hsu, I have a 5-year-and-1-month-old boy who is 102 cm tall and weighs 14 kg. Is there a concern regarding developmental delay? He has two older brothers, and his energy and learning abilities are normal. However, there is a significant difference in his gr...
Dr. Xu Shanjing Reply:
The child's mother is doing well! Each person's growth is different; children may take after their father or mother, and growth can occur early or late. If they are healthy and show no gastrointestinal symptoms, there is no need to worry! I recommend reading the informa...[Read More] Understanding Growth Delays in Children: When to Seek Medical Advice
How Often Should X-Rays Be Taken Safely for Rare Disease Patients?
How often is it safe to have an X-ray? Hello Doctor: I am an OI (Osteogenesis Imperfecta) patient. After fracturing my right thigh in 2003, I have been undergoing regular X-ray follow-ups, especially from 2006 to the present, where I have had X-rays taken almost every 3-4 months....
Dr. Lin Xuanpei Reply:
The safety concerns regarding X-ray exposure depend on factors such as the size of the area being imaged, the number of exposures, and the frequency of the examinations. It is also important to consider whether there are special reasons that necessitate the X-ray. For questions a...[Read More] How Often Should X-Rays Be Taken Safely for Rare Disease Patients?
Understanding Peters Plus Syndrome: Impacts, Complications, and Genetics
Peters Plus Syndrome is a rare genetic disorder characterized by a combination of ocular abnormalities, including corneal opacities and cataracts, Hello Dr. Lin: The child was born in March with a cleft lip and alveolar cleft. Due to the appearance of shorter limbs, he was referr...
Dr. Lin Xuanpei Reply:
Parents are advised to contact Dr. Chao Mei-Chin at Kaohsiung Medical University for further inquiries and discussions regarding genetic counseling during her special clinic hours. Dr. Chao is likely to be willing to meet with you. If you wish to seek a second opinion, you may br...[Read More] Understanding Peters Plus Syndrome: Impacts, Complications, and Genetics
Exploring the Link Between Motor Neuron Degeneration and Post-Polio Syndrome
The relationship between motor neuron degeneration and post-polio syndrome? Dear Dr. Jian, I have the following questions and would appreciate your guidance: At the age of three, I experienced atrophy and weakness in my left lower limb due to poliomyelitis and have never recei...
Dr. Jian Yingxiu Reply:
MND or ALS should be discussed with a neurologist. Currently, certain diseases can be diagnosed through genetic testing, so you may want to consult your neurologist about this. However, your previous cervical spine issues may also contribute to these symptoms, so it is essential ...[Read More] Exploring the Link Between Motor Neuron Degeneration and Post-Polio Syndrome
Sacroiliac Joint Dysfunction or Piriformis Syndrome: What's Your Diagnosis?
Sacroiliitis or Piriformis Syndrome? Hello Doctor: I have a painful spot in my left lower back (it feels like there is a "knot" when I touch it), and the discomfort extends from my buttock down to my left toes (the little toe and the ring finger), which often feel sore ...
Dr. Chen Shunsheng Reply:
The condition is likely Piriformis Syndrome. What is Piriformis Syndrome? The piriformis muscle is a muscle that passes through the posterior hip joint. It is smaller than other surrounding muscles in the buttocks and thighs and helps with the external rotation of the hip joint. ...[Read More] Sacroiliac Joint Dysfunction or Piriformis Syndrome: What's Your Diagnosis?
Understanding Osteogenesis Imperfecta: Brain Abnormalities and Symptoms Explained
Department of Genetic Medicine Hello Doctor: I am a patient with Osteogenesis Imperfecta (OI). In December 2004, I experienced a severe episode of dizziness that lasted for several days, extending over a month, after which it resolved on its own. However, around November 2006 unt...
Dr. Jian Yingxiu Reply:
Your condition may be due to other causes of osteoporosis leading to increased fracture risk, such as atypical osteogenesis imperfecta type I or type IV. Please consult your physician regarding relevant tests for OI to confirm the diagnosis.[Read More] Understanding Osteogenesis Imperfecta: Brain Abnormalities and Symptoms Explained
Understanding Nerve Damage: Alcohol Consumption and Recovery Options
Nerve damage and alcohol consumption? Hello, Doctor. Recently, I underwent a nerve conduction study, which confirmed that the peroneal nerve from my right calf to the dorsum of my foot is damaged. Currently, I have weakness in my right big toe. I would like to ask a few questions...
Dr. Chen Shunsheng Reply:
1. Does electrical therapy help with nerve growth? It may assist in nerve growth. 2. Is acupuncture effective? It might be beneficial. 3. Is vitamin B better administered via injection or orally? Both may not be beneficial. 4. Should alcohol be avoided during this period? I...[Read More] Understanding Nerve Damage: Alcohol Consumption and Recovery Options
Understanding Neurofibromas and Their Impact on Scoliosis Treatment
Neurofibromas compressing scoliosis? Dear Dr. Jian, I recently took my son to see an orthopedic specialist due to his complaints of back pain. An MRI revealed that he has scoliosis caused by a neurofibroma pressing on his spine. Could you please advise me on which authorities an...
Dr. Jian Yingxiu Reply:
After surgery, neurofibromas may regrow, so please consider this carefully before proceeding. Scoliosis does not always require surgery; please discuss the necessity of surgery with your trusted physician. Thank you.[Read More] Understanding Neurofibromas and Their Impact on Scoliosis Treatment
Where to Get DNA Kinship Testing for Rare Diseases?
DNA paternity testing? Where can I perform a DNA kinship test? I need to determine blood relations, not just parent-child relationships. It should be able to test the X chromosome. Thank you! Email: [email protected]
Dr. Jian Yingxiu Reply:
Please contact institutions that can perform paternity testing and request a kinship analysis.[Read More] Where to Get DNA Kinship Testing for Rare Diseases?
Understanding Granulomatous Tissue Proliferation: Symptoms, Treatment, and Research in Taiwan
Granulomatous tissue hyperplasia What is granulomatous tissue hyperplasia? What are its symptoms? Are there any physicians in Taiwan who have conducted in-depth research on this condition? Which department should one consult? Are there any images available for reference? Will the...
Dr. Jian Yingxiu Reply:
Please schedule an appointment with a pediatric hematology-oncology specialist.[Read More] Understanding Granulomatous Tissue Proliferation: Symptoms, Treatment, and Research in Taiwan