Other, Rare Disease FAQ - Page 9

What should I do about the purpura I developed during my pregnancy? Hello, I would like to ask a few questions: 1. I have allergic purpura, and this is my second episode. The first one occurred about a year ago. Last time, the doctor prescribed steroids, which helped. However, ...

Complications after mandibulectomy (malignant tumor resection) include: 1. Difficulty in chewing and swallowing. 2. Changes in speech or articulation. 3. Facial asymmetry or changes in appearance. 4. Nerve damage leading to numbness or altered sensation in the lower lip and chi...

What is glomerulonephritis? Hello Dr. Hong: My mother has recently experienced swelling in her legs and foamy urine. She mentioned that she had previously experienced lower limb edema and foamy urine, but the swelling subsided after a while, and she didn't pay much attention...

Corpus callosum Hello, doctor. Our older brother experienced seizures and had a bluish discoloration of the lips after birth. He was then transferred to a major hospital, where it was discovered that he has unilateral agenesis of the corpus callosum. He is now four years old and ...

The tips of my fingers experience severe pain every winter when exposed to cold water or cold wind? Hello Dr. Chen, I have been unable to schedule an appointment with you, so I am reaching out in this way for consultation! My mother is nearly 60 years old and has worked in the t...

De Quervain's Tenosynovitis & Rheumatoid Arthritis Due to the fact that this is an event organized by the school... (the topic is about a teacher who has been experiencing chronic shoulder pain, and after a consultation, the doctor informed her that she has De Quervain&#...

Children with allergies may experience difficulty breathing during sleep? Hello Doctor: My child is currently 4 years old and has a history of allergic conditions. He/she has loud and noisy breathing during sleep and often wakes up crying at night due to nasal congestion. He/she ...

Severe constipation in children? Hello, doctor: I would like to ask about my child's severe constipation, which often requires the use of laxatives to resolve. Sometimes, it takes one to two weeks for a bowel movement. As a result, my child eats very little. Which specialty ...

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 ...

Taste disorder Dear Dr. Chen, My mother underwent surgery for a benign thyroid tumor in her neck a year ago, and since then, her appetite has significantly decreased. She feels that her sense of taste has been greatly altered, and food has become tasteless to her, leading to a g...

Prader-Willi syndrome, growth hormone, and acromegaly? Hello, doctor! My sister's one-year-old daughter is suspected to have Prader-Willi syndrome or Angelman syndrome. Her hands and feet are very small (around the 3rd percentile). If she is indeed diagnosed, I would like to...

I experience soreness in my thigh muscles when leaning backward at a certain angle? Hello Dr. Chen: When I stand and lean back about 30 degrees, I experience soreness from my right hip down to my knee. This has been going on for almost six months, and it seems to be getting more ...

Is this a rare disease? Hello: Is "Alopecia" a rare disease? I have a friend who has this condition, please help me answer, thank you.

Propionic acidemia The rate of positive results in confirmatory testing for suspected propionic acidemia in newborn screening is approximately 50%. Propionic acidemia is a rare inherited metabolic disorder caused by a deficiency of the enzyme propionyl-CoA carboxylase, which is e...

Congenital rare diseases. What is C2? A newborn was tested and found to have a rare disease with a C2 value of 53, while the standard is 50.

Mitochondrial diseases Hello Dr. Hou, I would like to ask if mitochondrial diseases can always be detected through testing. My daughter underwent clinical observation in neurology and a DNA test, which revealed abnormalities in her DNA, but it could not be definitively diagnosed,...

Regarding Citrullinemia Hello Doctor: Our baby tested positive in the newborn screening. The retest also came back positive. I would like to understand if this confirms that my child has this condition. Additionally, what symptoms are associated with this condition? Will it have ...

Strange illness, please help me, doctor! Dear Doctor, My sister is 39 years old, 163 cm tall, and weighs 73 kg. Over the past decade, she has experienced approximately ten episodes of sudden onset symptoms without any prior warning. During these episodes, she feels as though he...

Worried Mother Hello Dr. Lin: My child had a larger head size at birth, and to be cautious, some pediatricians advised us to take him to Chang Gung Memorial Hospital for evaluation. The doctor arranged for an MRI, which revealed that the corpus callosum connecting the left and ri...

Suspected Fabry disease? I experience intermittent electric shock-like tingling sensations throughout my body (in my back and limbs, including my ankles). I have noticed that these sensations occur when I feel like I need to sweat, when I am anxious, or when I need to have a bowe...