Biên Soạn: TS.BS. Trần Ngọc Tuấn, BVĐK GIA ĐÌNH, ĐÀ NẴNG
Kính mời CBNV quan tâm tìm đọc theo nội dung bên dưới:
PART 1
An Eight-month-old infant presents with failure to thrive, feeding difficulty, and progressive hypotonia.
Blood pressure: 85/45 mmHg
Heart rate: 125 bpm
Respiratory rate: 30 bpm
Oxygen saturation: 98%
Temperature: 37.0°C
On examination, you find hepatosplenomegaly, hypotonia, and a cherry-red spot on fundus exam.
The tentative diagnosis may be:
A. Tay–Sachs disease,
B. Gaucher disease,
C. Niemann–Pick disease,
D. Krabbe disease.
1. Give the correct diagnosis, and provide the explanations with relevant peer-reviewed references.
2. Explain also why the other diagnoses are incorrect (relevant references also)
Note: Part 2 will be here in a few days.
Xin trân trọng cảm ơn!
