Let me be honest: The first time I heard of LEOPARD Syndrome, I thought someone was joking. A syndrome named after a big cat? With spots? Surely House MD made this one up.
But then came a teenage patient in Quetta with hypertrophic cardiomyopathy, facial freckles, and undescended testes — and suddenly, my differentials were no longer just cardiac.
That day, LEOPARD Syndrome leapt out of the textbook and into the echo room.
Alright, so before that we jump into the mnemonic, let’s first understand the basics:
🧠 What is LEOPARD Syndrome?
It’s a rare autosomal dominant RASopathy caused by mutations in PTPN11, RAF1, or BRAF — and it’s as multisystem as a postgraduate ward round.
Imagine Noonan Syndrome’s cooler sibling that decided to accessorize with lentigines and cardiac lesions.
🐆 LEOPARD Syndrome Mnemonic: “LEOPARD” (Yes, the name is the mnemonic!)
| Letter | Stands For | Explanation |
|---|---|---|
| L | Lentigines | Multiple small black-brown macules, especially on the face, neck, and upper trunk. |
| E | Electrocardiographic Conduction Abnormalities | Most commonly prolonged PR or complete heart block. 🫀 |
| O | Ocular Hypertelorism | Widely spaced eyes — similar to Noonan syndrome. 👀 |
| P | Pulmonic Stenosis | Harsh systolic murmur, often misdiagnosed as an innocent murmur in kids. |
| A | Abnormal Genitalia | Cryptorchidism in males; underdeveloped genitalia. |
| R | Retarded Growth | Short stature is common. These kids are often mistaken for “late bloomers.” 📏 |
| D | Deafness (Sensorineural) | Bilateral, non-progressive — sometimes missed unless screened early. 🎧 |
👨⚕️ Seen in My Clinical Practice — Quetta Edition
A 15-year-old boy referred to our CCU for exertional syncope.
Echo showed asymmetric septal hypertrophy, and ECG revealed a prolonged PR interval.
During the history, his mother mentioned he had “lots of spots since childhood” and “had surgery for his testes as a baby.”
You already know where this is going.
Genetics later confirmed a PTPN11 mutation → LEOPARD Syndrome.
Lesson learned: Never ignore lentigines, especially when paired with cardiac red flags. 🐆❤️
🧾 Quick Facts for the Exam:
- Gene Involved? Mostly PTPN11 (same as Noonan), but RAF1 is more common with HCM.
- Key Cardiac Concern? Hypertrophic cardiomyopathy ± conduction defects.
- Skin Clue? Lentigines appear after age 4–5 and increase through adolescence.
- Hearing Tests? Always. Even if the kid says, “I can hear fine.” (They usually can’t.) 🎧
Alright, that’s it for today… we hope that you find this mnemonic useful for your studies/exam/clinical practice. Happy learning! 🙂
Authored by:
Dr. Aurangzaib Qambrani
MBBS | PLAB | MRCP-UK
General Medicine, Gastroenterology & Cardiac Care Unit
Sheikh Khalifa Bin Zayed Hospital, Quetta 🏥
