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 Rare Disease
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
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 Rare Disease
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 Rare Disease
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
Understanding Osteogenesis Imperfecta: Brain Abnormalities and Symptoms Explained
I'm sorry, but I need specific content to translate. Please provide the text 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 and extended beyond a month, but it eventua...
Dr. Lin Xuanpei reply Rare Disease
It is unclear how old this adult internet user is or what their gender is. Osteogenesis imperfecta (OI) typically does not involve brain lesions. If the user's neurological symptoms are not due to other factors, it is essential to consider the possibility of cervical spinal ...[Read More] Understanding Osteogenesis Imperfecta: Brain Abnormalities and Symptoms Explained
Seeking Recommendations for Osteogenesis Imperfecta Specialists in Central Taiwan
Consult a physician? I have a friend who has Osteogenesis Imperfecta (OI). Previously, she was treated at a medical center in the northern part of Taiwan, where she was prescribed calcium supplements and bisphosphonate medications, and monitored for her previous surgeries. Since ...
Dr. Lin Xuanpei reply Rare Disease
I recommend Dr. Fu-Ren Tsai from the Department of Pediatric Genetics at China Medical University Hospital in Taichung, or Dr. Chia-Chi Hsu from the Pediatric Genetics Department at Taichung Veterans General Hospital. In Changhua, you can consult Dr. Yu-Yuan Ko or Dr. Hsuan-Pei L...[Read More] Seeking Recommendations for Osteogenesis Imperfecta Specialists in Central Taiwan
Understanding DiGeorge Syndrome: Symptoms, Types, and Treatment Options
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by a deletion of a small segment of chromosome 22. It is Hello! What are the clinical manifestations of DiGeorge syndrome, and are there different types? What are the treatment options? If a ...
Dr. Lin Xuanpei reply Rare Disease
DiGeorge syndrome is a congenital disorder caused by a deletion in the long arm of chromosome 22 at the 22q11.2 region, also known as CATCH22 (which stands for cardiac abnormalities, T cell deficit, clefting, and hypocalcemia; however, a small number of patients may have deletion...[Read More] Understanding DiGeorge Syndrome: Symptoms, Types, and Treatment Options
Understanding Rare Genetic Disorders: Symptoms and Inheritance Concerns
I would like to understand what condition is associated with these symptoms? Hello, doctor. I would like to understand if this is a genetic disorder or a rare disease. My mother was born with differences compared to others. She has limited mobility in her limbs, runs slowly, and ...
Dr. Lin Xuanpei reply Rare Disease
Please have Miss Hsuan-Ni take her brother to a nearby medical center to see a neurologist for an evaluation. First, clarify his condition to determine whether it is truly inherited from their mother. Work to identify possible causes and confirm the diagnosis. Only after that can...[Read More] Understanding Rare Genetic Disorders: Symptoms and Inheritance Concerns
Understanding Genetic Counseling and Testing for Rare Diseases
Genetic counseling and treatment? Hello Doctor: Thank you for your explanation regarding the tests for Osteogenesis Imperfecta (OI) concerning Wei-Lun. In your explanation, you mentioned special biochemical tests, genetic analysis, and bone age assessment. Could you please clarif...
Dr. Lin Xuanpei reply Rare Disease
1. Special biochemical tests include examinations related to skeletal development: alkaline phosphatase (Alk.-P), calcium, phosphorus, urinary calcium, and calcium/creatinine ratio. Sometimes, calcitonin, osteocalcin, and other research-related bone metabolism products may also b...[Read More] Understanding Genetic Counseling and Testing for Rare Diseases
Understanding Osteogenesis Imperfecta: Diagnosis and Treatment Options
Genetic counseling and treatment? 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 bisp...
Dr. Lin Xuanpei reply Rare Disease
The examination items for the initial visit for Osteogenesis Imperfecta (OI) may vary slightly depending on the recommendations of the specialist physicians at different hospitals. Generally, it will include at least skeletal X-rays, bone mineral density tests, and specific bioch...[Read More] Understanding Osteogenesis Imperfecta: Diagnosis and Treatment Options
Navigating Rare Diseases: Which Specialist Should You Consult?
What should I do??? Current medications: Fosamax (Alendronate), Bio-cal (Calcium supplement) for about four to five years. Medical history: (2002) Surgery on the right ear ossicles, post-operative hearing worsened. (2003) Right femur fracture surgery. (2007) Due to poor healing f...
Dr. Lin Xuanpei reply Rare Disease
Hello, the symptoms you described in your first question may indicate not only an allergy but also the possibility of sensory abnormalities. It would be advisable to consult an experienced dermatologist for an evaluation and necessary tests. You may also ask the dermatologist if ...[Read More] Navigating Rare Diseases: Which Specialist Should You Consult?
Genetic Counseling for Carnitine Deficiency: Understanding Risks and Prevention
Genetic counseling for carnitine deficiency? Hello, during my first pregnancy, I terminated the pregnancy after the prenatal checkup revealed that the baby had a cleft lip. In my second pregnancy, the baby's chromosomal analysis showed 46,XX,t(4;14)(q33;32.3) with the mother...
Dr. Lin Xuanpei reply Rare Disease
Carnitine deficiency can be broadly categorized into two main types: secondary and primary. Secondary carnitine deficiency primarily results from inadequate dietary intake or excessive consumption due to certain specific diseases, leading to a decrease in serum carnitine levels. ...[Read More] Genetic Counseling for Carnitine Deficiency: Understanding Risks and Prevention
Concerns About My Nephew's Health: Signs of Rare Disorders
My nephew was suspected of having Down syndrome? Dear Dr. Lin, Hello, my nephew is nine months old. He was previously seen at your clinic (Taipei Mackay Memorial Hospital) and there were concerns about the possibility of Down syndrome. However, I am unsure of the results. Recent...
Dr. Lin Xuanpei reply Rare Disease
It is uncertain whether the mentioned "Tang baby" refers to Down syndrome. If so, a chromosomal test can confirm the diagnosis. For the described infant's condition, if there are no urgent respiratory or sleep-related issues, it is recommended to utilize preventive...[Read More] Concerns About My Nephew's Health: Signs of Rare Disorders
Understanding Galloway-Mowat Syndrome: Insights and Information
Galloway-Mowat syndrome Hello Dr. Lin: I would like to gain a better understanding of this condition (Galloway-Mowat syndrome) because I have a friend who has a baby with this disease. I have searched extensively online and in books for information related to this condition, but ...
Dr. Lin Xuanpei reply Rare Disease
Galloway-Mowat syndrome is a severe congenital kidney disease associated with microcephaly and brain development abnormalities, often characterized by unique facial features. Many affected children have long, slender fingers and toes, and it is classified as an autosomal recessiv...[Read More] Understanding Galloway-Mowat Syndrome: Insights and Information
Understanding Congenital Cajal Cell Hyperplasia and Hirschsprung's Disease
Congenital Cajal cell hyperplasia associated with intestinal neuronal developmental abnormalities? Hello Director Lin, is the rare disease coded as ICD-9-CM 750.5 Hirschsprung's disease? Is congenital megacolon considered a rare disease? Thank you for your response.
Dr. Lin Xuanpei reply Rare Disease
No, the two are not the same disease.[Read More] Understanding Congenital Cajal Cell Hyperplasia and Hirschsprung's Disease
Understanding Uvaf Syndrome: Key Considerations for Caregivers and Educators
Uveitis syndrome is a rare disease? As a class advisor, I would like to inquire about a student in my class who has a certain medical condition. Aside from the visible differences compared to their peers, what precautions or considerations should we keep in mind for this child on...
Dr. Lin Xuanpei reply Rare Disease
The disease in question is Marfan syndrome. Therefore, the response is as follows: Children with Marfan syndrome can generally engage in daily activities and routines similar to their peers at school, but they should avoid vigorous exercise, particularly competitive activities, a...[Read More] Understanding Uvaf Syndrome: Key Considerations for Caregivers and Educators
Top 10 Rare Diseases You Should Know About
Rare diseases I would like to know the top ten rare diseases!
Dr. Lin Xuanpei reply Rare Disease
The characteristics of rare diseases are that "there are many types of diseases, but the individual incidence rates are very low!" The top ten that can be roughly ranked are: Phenylketonuria, Amyotrophic Lateral Sclerosis, Achondroplasia, Multiple Sclerosis, Osteogenesi...[Read More] Top 10 Rare Diseases You Should Know About
Understanding NF-1: Latest Research and Treatment Options for Patients
Qin En (currently 11 years old, 4th grade) examination? Dr. Lin: Hello! Thank you very much for taking the time to help patients with their questions online! I really appreciate it! My child (currently 11 years old, in 4th grade) has had multiple spots on his body since he was ve...
Dr. Lin Xuanpei reply Rare Disease
Hello! Here are brief answers to your questions: 1) Is there any breakthrough in the latest research on this disease? There are no significant breakthroughs yet, but patience will eventually yield some results; regular follow-up examinations are necessary. 2) Is there a possibili...[Read More] Understanding NF-1: Latest Research and Treatment Options for Patients
Navigating Down Syndrome Diagnosis: Seeking Guidance for New Parents
Please help me? I gave birth to a baby boy at a well-known hospital in the northern part of Taiwan in October. The attending physician indicated that there is a possibility of Down syndrome based on clinical observation and recommended chromosome screening. The results came back ...
Dr. Lin Xuanpei reply Rare Disease
Chromosomal testing techniques have reached a mature stage, and if the results indicate abnormalities in the 21st pair of chromosomes, it is consistent with a diagnosis of Down syndrome. It is essential to clarify whether it is the most common form, "Trisomy 21" (for ex...[Read More] Navigating Down Syndrome Diagnosis: Seeking Guidance for New Parents
Understanding Secondary Carnitine Deficiency in Rare Genetic Metabolic Disorders
Rare Disease: "Secondary Carnitine Deficiency due to Congenital Hereditary Metabolic Disorders" The child is currently one year and three months old and has shown developmental delays despite a smooth pregnancy and delivery. For example, at 4.5 months, she did not open ...
Dr. Lin Xuanpei reply Rare Disease
Please first confirm whether the deficiency of carnitine is primary or secondary. If it is secondary, what is the underlying cause? Are there clear results, or is it still under investigation? It is essential to thoroughly explore the primary causes, including comprehensive genet...[Read More] Understanding Secondary Carnitine Deficiency in Rare Genetic Metabolic Disorders
Understanding Crouzon Syndrome: Surgery Timing and Genetic Implications for Your Child
Kreutzfeldt-Jakob syndrome Hello, I discovered that my two-week-old child has craniosynostosis. He is now four months old. Initially, I took him to Taipei Veterans General Hospital to see Dr. Huang Li-Tung (neurosurgery), who recommended surgery at four months to cut the suture a...
Dr. Lin Xuanpei reply Rare Disease
The parents have brought the young patient to Mackay Memorial Hospital to seek our opinion. After arranging for necessary follow-up examinations and consulting relevant subspecialty physicians, the patient has now been referred to the pediatric neurosurgery department for preoper...[Read More] Understanding Crouzon Syndrome: Surgery Timing and Genetic Implications for Your Child