Rare Disease Q&A - Page 17

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...

What should I do if my child at home has not started to speak yet? Our child is one year and five months old and has not yet started to talk (not even saying "mom" or "dad"). What should we do? If we need to take them to see a doctor, which specialty should we...

Tourette syndrome Is there a medical remedy for Tourette syndrome? My child is 13 years old, and I would like to know how to help with symptoms such as facial tics, shoulder shrugging, and vocalizations.

Will the effect of administering immunoglobulin and vaccines become ineffective? Dear Dr. Hsieh, After administering immunoglobulin, does it diminish the effectiveness of vaccines received within the previous six months? Our child has Kawasaki disease and received the varicella...

Treatment of Guillain-Barré Syndrome? Could you please let me know which hospital or physician specializes in the treatment of Shy-Drager syndrome, and if Dr. Yang has specific consultation hours for this condition? Thank you.

Pheochromocytoma? Pheochromocytoma is indeed considered a rare tumor. The incidence is estimated to be about 2 to 8 cases per million people per year. Your friend's long-standing issues with unstable blood pressure and chest discomfort, which led to a diagnosis of pheochromo...

I would like to ask about the name of the disease and the reasons for contracting it? My friend sometimes inexplicably vomits blood (the amount is not very much, about the same as a mouthful of saliva). It seems to have worsened; now, whenever her emotions fluctuate too much, she...

Muscle strength is often difficult to achieve and requires brain control? Currently diagnosed conditions include: 1. Right chest depression, 2. Flat feet, 3. Knee deformity (the physician noted that one leg appears X-shaped while the two legs cannot be aligned like an O shape). I...

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...

Liver and gallbladder diseases The baby is currently over one month old, but has a high bilirubin level. The first test showed T-BILIRUBIN 7.2, DIRECT-BILIRUBIN 3.8; the second test showed T-BILIRUBIN 7.1, BILIRUBIN 3.6; and the third test showed T-BILIRUBIN 5.6, BILIRUBIN 3.1. I...

Rare inquiry Hello Dr. Hou, my sister's child was diagnosed with methylmalonic acidemia during the newborn screening follow-up. However, the child had been drinking formula for three months before going to the hospital and has never shown any symptoms. The growth curve is in...

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?

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.

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, ...

Immune system dysfunction? What is immune system dysfunction? What causes such diseases? How can they be treated?

Patients with scleroderma may be prescribed treatments to promote skin regeneration or the growth of new skin? Dr. Jian: A young girl was diagnosed with scleroderma over six years ago at the age of ten. Throughout this long journey of illness, her physical symptoms have stagnated...

Fatty Acid Oxidation Disorders Hello Dr. Jian: I have a friend who has issues with fatty acid oxidation, so I am curious about what symptoms are associated with fatty acid oxidation disorders. I would also like to ask about the metabolic pathways involved in fatty acid oxidation ...

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...

Chest issues? If the breast is uneven or has a noticeable difference in size or shape, it is important to consult a healthcare professional for an evaluation. Surgical intervention may be considered depending on the underlying cause and the individual's specific situation.

Failure to thrive? Hello Dr. Hou, my daughter is currently one year and six months old, weighing 7.7 kg and measuring 73 cm in height, with a head circumference of 42 cm. She is not crawling, walking, or saying "daddy." Last year, due to developmental delays, we consult...