Leopard syndrome

Leopard Syndrome

Leopard syndrome is a rare genetic disorder characterized by multiple congenital anomalies and distinctive skin findings. It is also known as Noonan syndrome with multiple lentigines. The name "LEOPARD" is an acronym derived from the major features of the syndrome: Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retarded growth, and Deafness.

Etiology

Leopard syndrome is primarily caused by mutations in the PTPN11 gene, which encodes the protein tyrosine phosphatase, non-receptor type 11. This gene is involved in the RAS/MAPK signaling pathway, which is crucial for cell division, differentiation, and growth. Mutations in other genes such as RAF1 and BRAF have also been associated with the syndrome.

Clinical Features

The clinical presentation of Leopard syndrome can vary widely among affected individuals, but common features include:

• Lentigines: Multiple small, dark brown skin spots that resemble freckles, typically appearing in childhood.
• Electrocardiographic conduction abnormalities: These may include left axis deviation, right bundle branch block, or other conduction defects.
• Ocular hypertelorism: An increased distance between the eyes.
• Pulmonary stenosis: Narrowing of the pulmonary valve or artery, which can lead to heart complications.
• Abnormal genitalia: This can include cryptorchidism in males or other genital anomalies.
• Retarded growth: Short stature is common in individuals with Leopard syndrome.
• Deafness: Sensorineural hearing loss may occur.

Diagnosis

Diagnosis of Leopard syndrome is based on clinical evaluation, family history, and genetic testing. The presence of multiple lentigines and other characteristic features can lead to suspicion of the syndrome, which can be confirmed by identifying mutations in the PTPN11 gene or other associated genes.

Management

Management of Leopard syndrome is symptomatic and supportive. Regular monitoring and treatment of cardiac abnormalities, hearing loss, and growth issues are essential. Genetic counseling is recommended for affected individuals and their families.

Prognosis

The prognosis for individuals with Leopard syndrome varies depending on the severity of the symptoms and the presence of complications such as cardiac defects. With appropriate medical care, many individuals can lead relatively normal lives.

Also see

• Noonan syndrome
• Cardiofaciocutaneous syndrome
• Costello syndrome
• RASopathies