Rare Disease Q&A - Page 19

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 ...

Chronic granulomatous disease Is this disease very complex? Does the treatment process take a long time? What should I pay attention to after going home? I found information online that the prognosis seems to be poor; is that true?

Dietary Considerations for Babies with Mucopolysaccharidosis Dietary Considerations for Babies with Mucopolysaccharidosis

Abnormal urine color? My child is eight years old. Since birth, the urine color has been normal when urinating, but after being left for a while, it turns darker, resembling dark brown. I have consulted several pediatricians, and they all said it’s not a concern. Recently, I hear...

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 ...

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 ...

"Dejerine-Klumpke syndrome" is a type of brachial plexus injury that results from damage to the lower trunk of the brachial plexus, typically due to trauma or excessive stretching of the arm. This condition can lead to weakness or paralysis of the muscles in the hand an...

Does Kearns-Sayre syndrome require hospitalization and isolation? My father, 67 years old, was diagnosed with suspected Kuru disease at China Medical University in Taichung. He has been hospitalized for 17 days in a general ward, and to facilitate family care, he was transferred ...

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.

ALD The primary cause of death in patients with ALD (Alcoholic Liver Disease) is liver failure, which can lead to complications such as hepatic encephalopathy, variceal bleeding, and infections. The 4:1 ratio for oil refers to the volume ratio.

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...

Is it a rare disease? Hello! Is Crohn's disease considered a rare disease?

Rare diseases Infants with propionic acidemia may develop symptoms such as metabolic acidosis, lethargy, vomiting, poor feeding, and developmental delays. To prevent symptoms, it is crucial to manage the condition through dietary restrictions, including a low-protein diet and sup...

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,...

Worried about grandma? My grandson has been confirmed by the hospital to have methylmalonic acidemia. However, he has gained 2 kilograms and grown 6 centimeters in height while drinking milk for the past two months, and he seems to be in good spirits. I have great respect for doc...

No sweating and全身刺痛? Hello, I experience a tingling, electric shock sensation and pain in my limbs and back when exposed to higher temperatures or when I feel like I am about to sweat. I have been hospitalized and have undergone multiple tests, including blood tests, immunologica...