Understanding Cat Cry Syndrome: Can Normal Chromosomes Still Lead to Symptoms?
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 ...
Dr. Zhu Shaoying reply Rare Disease
Concerned Mother: It appears that your child does indeed have some issues, as you mentioned, including a weak cry, low birth weight, poor sucking ability, developmental delays, a flat nasal bridge, a short neck, and simian lines. We are unsure why you underwent early chorionic vi...[Read More] Understanding Cat Cry Syndrome: Can Normal Chromosomes Still Lead to Symptoms?
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 Rare Disease
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
Diagnosing Congenital Bile Acid Synthesis Disorders and PFIC in Infants
Congenital bile acid synthesis disorders and PFIC (Progressive Familial Intrahepatic Cholestasis) How should congenital bile acid synthesis disorders and PFIC be diagnosed? Because the baby is currently 4 months old and is suspected to have PFIC.
Dr. Zhu Shaoying reply Rare Disease
Hello: PFIC is an autosomal recessive genetic disorder, classified into two types, PFIC1 and PFIC2, based on different genetic mutations. It is a progressive cholestatic liver disease, and a definitive diagnosis requires liver biopsy and genetic testing (genetic testing is curren...[Read More] Diagnosing Congenital Bile Acid Synthesis Disorders and PFIC in Infants
Effective Treatment Options for Tourette Syndrome: A Comprehensive Guide
Treatment methods for Tourette syndrome? Treatment methods for Tourette syndrome.
Dr. Zhu Shaoying reply Rare Disease
Hello: First, family members, friends, teachers, and colleagues of patients with Tourette syndrome must have a correct understanding of the condition, as the symptoms of Tourette syndrome are involuntary and cannot be controlled. When it comes to pharmacological treatment for Tou...[Read More] Effective Treatment Options for Tourette Syndrome: A Comprehensive Guide
Understanding Favism: Nutrition and Management for Patients
Regarding Favism (G6PD deficiency) Hello Dr. Zhu: While G6PD deficiency may not be classified as a rare disease, the symptoms caused by exposure to camphor oil or ingestion of fava beans (hemolysis) can be quite frightening. I have seen online that individuals with G6PD deficienc...
Dr. Zhu Shaoying reply Rare Disease
Hello: Favism is a genetic defect primarily located on the X chromosome, inherited in a sex-linked recessive manner, which is why the majority of patients are male. Patients lack the enzyme "glucose-6-phosphate dehydrogenase" (G6PD), and when they take oxidative medicat...[Read More] Understanding Favism: Nutrition and Management for Patients
Understanding Protein Malabsorption in Infants: Causes and Treatments
Is there any information regarding protein malabsorption in children and its treatment methods? My sister recently gave birth for the first time. Although everything went smoothly, the baby has developed a condition of protein malabsorption. My sister and the entire family are un...
Dr. Zhu Shaoying reply Rare Disease
Thank you for your message. Before answering your questions, I believe it is necessary to gain a deeper understanding of the condition in order to address your concerns more clearly: Does the child have chronic diarrhea? Is there any immune deficiency or gastrointestinal infectio...[Read More] Understanding Protein Malabsorption in Infants: Causes and Treatments