Rare Disease Q&A - Page 15

Congenital myopathy with minimal change? Hello Dr. Chen, could you please explain what congenital myopathy with minimal change is, and how to care for it? Because Rui Rui is currently experiencing widespread pain, has a significant outward strabismus that requires surgery, abnorm...

Dylan's syndrome? Doctor: Hello, your daughter is currently 4 years old. She has been receiving speech therapy (ST) and occupational therapy (OT) since she was 3 years old. Her EEG and hearing tests are normal. For safety reasons, she has been on medication to control seizur...

Orthopedic Consultation My child is in the second grade. When he was over one year old, we discovered multiple bone enlargements on the right side of his body, specifically in the bones between the joints and in the pelvis. We have been monitoring this with annual X-rays, but we ...

Thrombocytopenia of unknown etiology? Hello, Dr. Lin. Recently, during a health check-up, I found that my platelet count has been continuously decreasing. I went to the hematology-oncology department for tests, but they couldn't identify the cause and only advised me to cont...

Regarding Cat Cry Syndrome? Because I have observed several characteristics of Cri du Chat syndrome in my baby, such as a weak cry, low birth weight, poor sucking reflex, developmental delays, a flat nasal bridge, a short neck, and a simian line. However, you mentioned that this ...

Congenital camptodactyly My son was born with a bent left thumb, and after consulting an orthopedic doctor, it was diagnosed as congenital camptodactyly. The doctor suggested that regular massage could help improve the condition. He is currently four months old, and I have notice...

Xeroderma pigmentosum Is xeroderma pigmentosum considered a rare disease? What symptoms does it have? What causes this condition? Is it treatable?

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 ...

The hematologist suspects that I have vasculitis, while the dermatologist suspects erythema nodosum? I have noticed swollen, red, and warm spots on my calves. They are inflamed! The smaller ones are about the size of a ten-dollar coin, while two areas are larger, roughly the size...

Congenital megacolon Hello, Director Hsu. Is congenital megacolon considered a rare disease? (The pediatric medical center diagnosed it as aganglionic congenital megacolon.) Is this condition hereditary? Thank you.

"Argininemia" - What should be noted while waiting for the report to come out? My colleague's baby has been diagnosed with an abnormality in arginine metabolism. During the waiting period for the report, what should she pay special attention to? If the final test r...

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?

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...

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.

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...

Mitochondrial pathology Hello Dr. Hou, my son is currently five years old, weighing 9 kilograms and measuring 90 centimeters in height. He has been diagnosed with mitochondrial disease and has poor kidney development at birth, along with renal tubular acidosis. He is currently on...

Neonatal nodules Doctor: I have a question to ask. How can we differentiate between a nodule and congenital neonatal hernia in a 2-month-old female infant, considering that the abdominal ultrasound examination was normal at birth?

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 ...

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 ...

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 ...