LEOPARD, syndrome 

[MIM 151 100611 554613 707]

(acronym for multiple Lentiginoses, abnormal Electrocardiogram, Ocular hypertelorism, Pulmonary stenosis ,  genital or urinary Anomaly,  mental and growth Retardation, Deafness recently renamed: Noonan Syndrome with lentiginoses )

(Multiple lentigines syndrome, Moynahan syndrome, cardiomyopathic lentiginosis)

Rare, autosomal dominant transmission. Part of the group of the RASopathies (see this term). Anomalies of the migration of the cells of the neural crest due to a mutation of the PTPN11 gene  (12q24.1) (90 %), or, more rarely, the RAF1 gene. Diagnosis is based on

-        the presence of multiple lentigines: brown or black kin patches that appear in childhood, and increase at the time of puberty; they are located in the upper part of the trunk, neck and upper limbs, as well as on the palms of the hands and the soles of the feet, but do not reach the mucous membranes; There may also be cafe-au-lait spots.

- associated with at least 2 elements  of the acronym of which:

(1)  a cardiac anomaly

* congenital malformation: pulmonary valve stenosis or dysplasia (40 %), obstructive hypertrophic cardiomyopathy, coronary anomalies

*  rhythm or conduction disorders: long QT, T wave abnormalities, risk of sudden death from cardiac causes

(2)  facial dysmorphism: hypertelorism, ptosis, low-set ears, flat nose, prognathism, sometimes cleft palate

(3)  delayed puberty, cryptorchidism

(4)  sensorineural hearing loss

(5)  learning difficulties

(6)  musculo-skeletal anomalies: short stature, scoliosis, pectus excavatum or carinatum

Occasionally: neurofibromas, diffuse hyperpigmentation, skin and joint laxity (phenotypically close form of neurofibromatosis type I).

The risk of tumor is low: neuroblastoma or acute lymphoblastic leukemia.


Anesthetic implications:

significant risk of cardiac complications: ECG and preoperative cardiac ultrasound; ECG at the time of induction of anesthesia; management of an obstructive cardiomyopathy or a long QT (see this term); deafness


References : 


Updated: February 2019