Other, Rare Disease FAQ - Page 8

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Understanding Cat Cry Syndrome: Coping Strategies for Affected Families

Cat Cry Syndrome Have you heard of Cri du Chat syndrome? How should I handle it? I gave birth to a baby with Cri du Chat syndrome this June, and it has been a significant blow for me. What should I do?


Dr. Zhu Shaoying Reply:
Dear Ms. Hsiao-Mei's mother, please do not be anxious. Since we are unsure of your location, our recommendations for your concerns are as follows: 1. Please seek a nearby genetic counseling center for detailed consultation. You can find the nearest genetic counseling cente...

[Read More] Understanding Cat Cry Syndrome: Coping Strategies for Affected Families


Best Treatment Options for Congenital Adrenal Hyperplasia in Children

Where is the best place to receive treatment for congenital adrenal hyperplasia? Hello Dr. Jian, My child is a boy, currently 5 years and 8 months old, attending kindergarten. He is not yet six years old. Due to his height growth, we recently took him to the hospital for an exa...


Dr. Jian Yingxiu Reply:
You can seek treatment at hospitals with pediatric endocrinology departments, such as Dr. Li Yen-Chin at Mackay Memorial Hospital, Dr. Tsai Wen-Yo at National Taiwan University, Dr. Tong Yi-Ching, Dr. Yang Chen at Taipei Medical University, and at Beirong or other hospitals. Plea...

[Read More] Best Treatment Options for Congenital Adrenal Hyperplasia in Children


Understanding and Managing Sudden Aggressive Behaviors in Children

Children's temper and behavior? Hello Dr. Lin, I would like to discuss some concerning behaviors exhibited by my child. For instance, there was an incident at my sister's house where, while playing with cousins, my child suddenly hit his cousin in the face with a comput...


Dr. Lin Guanglin Reply:
You can first go to a pediatric mental health assessment to determine if the impulsive behavior is indicative of Attention-Deficit/Hyperactivity Disorder (ADHD).

[Read More] Understanding and Managing Sudden Aggressive Behaviors in Children


Navigating Life with an Unnamed Rare Disease: A Family's Journey

Illnesses without a specific diagnosis? Hello Doctor, I would like to ask you a question. My nephew was born in 2003. When he was 2 to 3 months old, we noticed some abnormalities, and my sister took him to the hospital for examination. The result showed that he has an extra half ...


Dr. Jian Yingxiu Reply:
Your condition is classified as a chromosomal abnormality disease, which primarily affects the brain, heart, gastrointestinal tract, or other internal organs. The specifics depend on whether there are any deficiencies in the chromosomal genetic material and whether the connection...

[Read More] Navigating Life with an Unnamed Rare Disease: A Family's Journey


Understanding Propionic Acidemia: A Mother's Concerns and Testing Options

Propionic acidemia I have a two-month-old baby who was born on July 21. He has gas and a swollen belly; should we do further examinations? His newborn screening sent to National Taiwan University Hospital indicated propionic acidemia, and they asked us to do a second test. Since ...


Dr. Xu Shanjing Reply:
Ms. Hsiao-Yi, metabolic disorders can yield slightly different results depending on the severity, the child's age, and various conditions such as whether they have eaten or are ill. Screening results are typically categorized into three levels: suspicious positive (which may...

[Read More] Understanding Propionic Acidemia: A Mother's Concerns and Testing Options


Understanding Tyrosinemia: Causes, Treatment, and Growth Impact in Children

Tyrosinemia I gave birth to a child who was diagnosed with tyrosinemia after screening. She is currently on a special formula for treatment. Will this condition improve? The doctor mentioned that my daughter's condition is mild. Why does my child have this disease when both ...


Dr. Jian Yingxiu Reply:
Tyrosinemia is an autosomal recessive genetic disorder, where parents are carriers and do not exhibit symptoms. Please discuss your baby's condition regarding tyrosinemia further with your physician. If the increase in tyrosine levels is not due to immature liver function, t...

[Read More] Understanding Tyrosinemia: Causes, Treatment, and Growth Impact in Children


Understanding Rare Brain Disorders: Symptoms and Diagnosis Challenges

Brain diseases My sister had a car accident before, but she was fine, so we didn't pay much attention to it. After a year, one day she suddenly started to react slowly, and then she couldn't recognize who you were or say your name. We took her to the hospital for examin...


Dr. Lai Xiangrong Reply:
Regarding your question, since we have not seen the patient, we cannot make a complete assessment of the EEG. However, the electrodes placed on the scalp can observe the electrical activity of the brain, which is the best auxiliary tool for diagnosing epilepsy, rather than for tr...

[Read More] Understanding Rare Brain Disorders: Symptoms and Diagnosis Challenges


Understanding Recurring Vaginal Infections: Seeking Answers and Solutions

Vaginal infection!!! I experience vaginal infections 1 to 2 times every month, and this has been ongoing for several years. Each infection is accompanied by white and yellow-green chunky discharge, and there is also itching in the vulvar area. This year, I had one instance of hav...


Dr. Lin Zhenru Reply:
White and yellow-green, clumpy discharge resembling cottage cheese, along with itching in the vulvar area, are common symptoms of a vaginal yeast infection. Vaginal yeast infections are quite prevalent gynecological infections, and many individuals experience recurrent infections...

[Read More] Understanding Recurring Vaginal Infections: Seeking Answers and Solutions


Understanding Compulsive Behavior in Students: A Case Study

Could you please clarify the question regarding the students in the class? I would like to ask you about a student of mine who frequently steals from other students. He mentioned that he steals items from girls he likes almost every day, and he doesn't just like one girl at ...


Dr. Huang Litong Reply:
This student does not have obsessive-compulsive disorder or attention deficit hyperactivity disorder; the issues may stem from family or school adaptation problems. It would be advisable to seek guidance from the school counselor.

[Read More] Understanding Compulsive Behavior in Students: A Case Study


Concerns About Developmental Delays in a One-Year-Old Child

Please consult about developmental issues in a 1-year-old child? My son just turned one year old. He can roll over but doesn't sit up well and needs support to walk slowly. His left hand is often clenched into a fist with the palm facing backward and the arm extended straigh...


Dr. Lin Guanglin Reply:
One year old, can roll over but has difficulty sitting up, needs to be evaluated.

[Read More] Concerns About Developmental Delays in a One-Year-Old Child


Managing Neuropathic Pain in Multiple Sclerosis: Treatment Options and Insights

Neuralgia Hello Doctor: I am a patient with multiple sclerosis, and one of the sequelae of my condition is neuropathic pain, which is very difficult to endure. The doctor has prescribed me antidepressants and anticonvulsants, and I have been taking them for a while now; however, ...


Dr. Yang Kunde Reply:
The pain complications of multiple sclerosis are quite diverse, especially since there are fewer patients of this type in our country. The experience in managing neuropathic pain sequelae after onset is less than that of Western patients. It is essential to collaborate patiently ...

[Read More] Managing Neuropathic Pain in Multiple Sclerosis: Treatment Options and Insights


Understanding Weakness in Elderly: Causes and Solutions for Mobility Issues

Elderly individuals - weakness in the limbs? An elderly man in his eighties is experiencing weakness in his limbs, unsteady walking (with swaying), and occasionally knocking things over. His medical history includes: 1. Hypertension, heart disease, and diabetes. 2. In May of this...


Dr. Lai Xiangrong Reply:
Your father's limb issues are likely due to: 1. Diabetic polyneuropathy -> which can cause limb weakness; 2. Heart failure -> which can also lead to limb weakness; 3. Cerebellar dysfunction -> which can result in unsteady gait and difficulty with fine motor skills. ...

[Read More] Understanding Weakness in Elderly: Causes and Solutions for Mobility Issues


Understanding Insulinoma: A Rare Disease and Its Management Challenges

Insulinoma Is pancreatic neuroendocrine tumor considered a rare disease? Are there other names for it within the category of rare diseases? Recently, our institution admitted a patient with this diagnosis. Currently, the patient's blood glucose levels are maintained between ...


Dr. Jian Yingxiu Reply:
Nesidioblastosis, a type of pancreatic neuroendocrine tumor, can be effectively managed through surgical intervention in some patients to alleviate hypoglycemic symptoms. For those who are not surgical candidates, pharmacological treatment may be considered. Currently, we are usi...

[Read More] Understanding Insulinoma: A Rare Disease and Its Management Challenges


Understanding Granulocyte Sarcoma: Symptoms, Treatment, and Recurrence Risks

Langerhans Cell Histiocytosis Hello, doctor: My brother previously sought medical attention for ulceration under his armpit, and the doctor diagnosed him with "Langerhans Cell Histiocytosis." The doctor mentioned that this is a rare disease with very few actual cases. H...


Dr. Yang Kunde Reply:
"Granulocyte Sarcoma" is classified into three categories: ranging from mild cases involving the skin or lymph nodes to severe cases with malignant fever and malignancies. Your brother's condition may fall under the mild category, which has a lower recurrence rate!...

[Read More] Understanding Granulocyte Sarcoma: Symptoms, Treatment, and Recurrence Risks


Seeking Answers: Unexplained Symptoms of a Rare Illness

Unknown etiology A student is currently hospitalized elsewhere, but the cause of their illness remains undetermined. The symptoms are generally as follows: 1. Incoherent expression (repetitive, non-fluent, but with intact comprehension; sentences are fragmented and mixed with o...


Dr. Chen Shunsheng Reply:
Your classmate's neurological examination presents the following features: 1. Recurrent neurological symptoms 2. Abnormalities affecting multiple areas of the nervous system: occipital lobe, temporal lobe, frontal lobe, visual or auditory pathways, etc. 3. Symptoms particula...

[Read More] Seeking Answers: Unexplained Symptoms of a Rare Illness


Understanding Behçet's Disease: Genetic Risks and Symptoms to Watch For

Regarding Behçet's disease? Hello Dr. Lin: I have had poor health since childhood, and my mother suffers from Behçet's disease. She is very concerned that I may have inherited her condition. My first question is: Is this disease hereditary? I am now experiencing some si...


Dr. Lin Sixie Reply:
Behçet's disease is an autoimmune disorder characterized by recurrent oral and genital ulcers, uveitis, and arthritis. There have been reports suggesting a possible familial genetic predisposition. If you experience any of these symptoms, it is advisable to consult a rheumat...

[Read More] Understanding Behçet's Disease: Genetic Risks and Symptoms to Watch For


Medication Options for Managing Restless Leg Syndrome: Sinemet vs. Requip

Medications for Involuntary Movements Hello, doctor. I have been diagnosed with restless legs syndrome and currently prescribed Sinemet 25-100. However, another physician suggested that I switch to Requip FC 0.25 mg (Ropinirole). What is your opinion?


Dr. Lai Xiangrong Reply:
One theory of restless leg syndrome is the abnormality of the dopamine system. Sinemet is a medication that provides dopamine, while Requip is a dopamine receptor agonist, both of which increase the effects of dopamine.

[Read More] Medication Options for Managing Restless Leg Syndrome: Sinemet vs. Requip


Understanding Fat Pad Syndrome: Causes, Symptoms, and Treatment Options

Fat pad syndrome Dear Doctor, could you please explain what fat pad syndrome is and whether it can occur in the soles of the feet? Are there any websites or resources with more in-depth information about this condition? Thank you.


Dr. Chen Shunsheng Reply:
Fat Pad Syndrome This is a condition that is not commonly seen; it is not specific to runners, triathletes, or training in general. However, because it is often misdiagnosed by doctors, I thought it deserved its own page. Essentially, it is a sore heel—the pain is concentrated i...

[Read More] Understanding Fat Pad Syndrome: Causes, Symptoms, and Treatment Options


Understanding Systemic Electric Pain: A Rare Disease Overview

Systemic electric shock-like pain? Symptoms: Hello, I experience a tingling, electric shock sensation and a crawling pain in my limbs and back when exposed to higher temperatures or during times of stress. I have been hospitalized multiple times for tests, including blood tests, ...


Dr. Chen Shunsheng Reply:
Pure sensory polyneuropathy and/or sympathetic autonomic neuropathy. The causes include congenital or hereditary factors, metabolic disorders (such as amyloidosis), toxic factors (such as tropical marine toxins), and immune abnormalities, among others. Please visit the neurology ...

[Read More] Understanding Systemic Electric Pain: A Rare Disease Overview


Seeking Guidance for Rare Joint Pain: A Patient's Journey

Inquire about the patient's condition? Dear Dr. Chen, I hope this message finds you well. My wife has been suffering from a persistent illness for the past few years, and we are unsure of how to approach her treatment. I would like to seek your advice on this matter. My wi...


Dr. Chen Shunsheng Reply:
Migratory joint lesions are less common in neurological diseases and may require consultation with rheumatology and dermatology. The neurology department should rule out certain neurological infectious diseases, such as Lyme disease, which is just one of the conditions to conside...

[Read More] Seeking Guidance for Rare Joint Pain: A Patient's Journey


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