An 8-month-old girl with Turner syndrome is brought to the emergency room by her parents, who complain that their daughter is breathing rapidly and not eating. Physical examination reveals tachypnea, pallor, absent femoral pulses, and a murmur heard at the left axilla. There is hypertension in the upper extremities and low blood pressure in both legs. A chest X-ray shows notching or scalloping of the ribs. What is the appropriate diagnosis?
An 8-month-old girl with Turner syndrome is brought to the emergency room by her parents, who complain that their daughter is breathing rapidly and not eating. Physical examination reveals tachypnea, pallor, absent femoral pulses, and a murmur heard at the left axilla. There is hypertension in the upper extremities and low blood pressure in both legs. A chest X-ray shows notching or scalloping of the ribs. What is the appropriate diagnosis?
💡 Explanation
**Core Concept:** Turner syndrome is a chromosomal disorder in females, caused by the absence of one of the two X chromosomes. The clinical presentation may include growth retardation, webbed neck, low-set ears, and cardiovascular abnormalities.
**Why the Correct Answer is Right:** The patient's symptoms, examination findings, and radiological results lead to the diagnosis of Turner syndrome. The symptoms of rapid breathing (tachypnea) and refusal to eat (anorexia) are related to her compromised cardiovascular system. The absent femoral pulses and hypertension in the upper extremities are indicative of coarctation of the aorta, a common cardiovascular abnormality in Turner syndrome. The notching or scalloping of the ribs on the chest X-ray is a characteristic feature of Turner syndrome.
**Why Each Wrong Option is Incorrect:**
A. The presentation does not align with this option, as Turner syndrome is predominantly seen in females.
B. This option is unrelated to the patient's symptoms and examination findings.
C. The symptoms and examination findings do not match the description of this condition.
D. The patient's symptoms, examination findings, and radiological results are more consistent with Turner syndrome than this option.
**Clinical Pearl:** Turner syndrome is a crucial diagnosis to make in this scenario, as early diagnosis and intervention can improve the patient's overall outcome. Treatment may involve hormone replacement therapy, monitoring for complications, and addressing cardiovascular abnormalities such as coarctation of the aorta.
✓ Correct Answer: C. Coarctation of aorta
📤 Share this MCQ
Share Card Preview
👆 1080x1080 square card — fills the full width in WhatsApp and Telegram