Noonan Syndrome With Multiple Lentigines - LEOPARD Syndrome Symptoms & Treatment
This video is about LEOPARD syndrome also known as Noonan Syndrome With Multiple Lentigines (NSML). It is a rare autosomal dominant inherited genetic disorder effecting the skin, face, head, inner ear, heart and genital organs. It results from mutation in PTPN11gene on chromosome 12q24. I t is characterized by freckle-like skin pigmentation, heart problems, wide-set eyes, narrowing of pulmonary valve, cryptorchidism, growth retardation, and deafness. It is similar to Noonan Syndrome, but has lentigines - skin pigmentation. ECG, echocardiography, hearing test, brain CT scan and endocrine evaluation should be done. It is managed with symptomatic treatment and hearing aid. Harmone treatment may be required at expected time of puberty. Genetic counselling may also be needed.
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