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At least 19 recordsLinked to original sources
PubMed1997

Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).

The multiple lentigines syndrome is an autosomal dominant condition which has many similarities to Noonan syndrome, except in the most striking feature from which its name is derived. The less neutral but very apt mnemonic, LEOPARD syndrome, was first used by Gorlin et al to whom the major debt in the definition of this syndrome lies, that is, Lentigines, ECG abnormalities, Ocular hypertelorism/Obstructive cardiomyopathy, Pulmonary valve stenosis, Abnormalities of genitalia in males, Retardation of growth, and Deafness. Not previously included in the mnemonic is cardiomyopathy which is an important feature because it is associated with significant mortality.

Abnormalities, Multiple↗
PubMed2001

Oro-dental and craniofacial anomalies in LEOPARD syndrome.

'LEOPARD syndrome' is a syndrome affecting many systems or organs. The main anomalies are summarized in the acronym LEOPARD in which each letter corresponds to the damage of a given organ. In the presented case, there are oro-dental and craniofacial anomalies. The relationship between the LEOPARD syndrome and the given anomalies and the possibilities of the management and the follow-up of the diseased are studied. The clinical case presented is a 4-year-old boy with LEOPARD syndrome showing retardation of dental development, delayed development and possible agenesis of permanent teeth, and craniofacial anomalies (osseous hypodevelopment). The bibliographical study shows that LEOPARD syndrome is due to damage of the neural crest cells. Thus, the dental and craniofacial anomalies arise since neural crest cells participate in the formation of the teeth and some craniofacial bones. Therefore, dental and craniofacial anomalies might be expected in some cases of the disease. The therapeutic management of the lesions, and the follow-up of the patient would be done by a multidisciplinary team.

Abnormalities, Multiple↗
PubMed2002

PTPN11 mutations in LEOPARD syndrome.

LEOPARD syndrome is an autosomal dominant disorder with multiple lentigines, congenital cardiac abnormalities, ocular hypertelorism, and retardation of growth. Deafness and genital abnormalities are less frequently found. We report a father and daughter and a third, unrelated patient with LEOPARD syndrome. Recently, missense mutations in the PTPN11 gene located in 12q24 were found to cause Noonan syndrome. All three cases of LEOPARD syndrome reported here have a Y279C mutation in the PTPN11 gene. We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype and that other mutations, such as the Y279C mutation reported here, are associated with both the Noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or café au lait spots.

Abnormalities, Multiple↗
PubMedDate not supplied

Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.

Neurofibromatosis (NF), Noonan syndrome (NS), and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the 'Neurofibromatosis-Noonan syndrome' (NF-NS). The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.

Humans↗
PubMed2004

Anaesthetic implications of LEOPARD syndrome.

LEOPARD syndrome is a neuroectodermal disorder presumed to result from an abnormality in neural crest cells. The acronym 'LEOPARD' is derived from the clinical features which include multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retarded growth, and deafness. Given the multisystem nature of the disease process, several issues may affect the perioperative care of these patients. Of primary importance are associated conditions of the cardiovascular system including congenital heart disease, conduction disturbances, and progressive hypertrophic obstructive cardiomyopathy. The authors present a 4-year old boy who presented for anaesthetic care for repair of a ventricular septal defect and pulmonary valvotomy for congenital pulmonary stenosis. The potential perioperative implications of LEOPARD syndrome are discussed.

Anesthesia, General↗
PubMed2003

[ECG changes during emergence from anesthesia in a patient with LEOPARD syndrome].

LEOPARD syndrome is a rare congenital disease characterized by seven features. Besides the original clinical manifestations, hypertrophic cardiomyopathy was reported as an additional laboratory finding recently. We gave general anesthesia to a child of this syndrome, and encountered ECG changes during emergence from anesthesia. The diagnosis was made in her infancy, and had been receiving beta-blocker treatment ever since. The preoperative examination showed remarkable right axis deviation in ECG, and asymmetric ventricular septal hypertrophy in echocardiography. After the operation, several kinds of arrhythmia (i.e. atrioventricular junctional rhythm, atrioventricular dissociation, etc), were observed and they continued for a few minutes. Careful planning for the perioperative management of this syndrome is mandatory. The cardiomyopathy must be examined beforehand. We made an effort to prevent the extreme changes of pre- and after-load during the general anesthesia.

Anesthesia Recovery Period↗
PubMed1990

'Leopard' syndrome.

'Leopard' syndrome is a rare inherited disorder associated with a high prevalence of cardiac abnormalities. General anaesthesia for dental treatment in a patient who had cardiomyopathy and bizarre electrocardiographic abnormalities associated with this syndrome is described. A thorough cardiac assessment is advised in a patient with multiple lentigines, although no clinical symptoms or signs may be found. Even if no cardiac abnormality is found before it is better to re-assess the patient, since abnormalities may develop later. The assessment should be repeated if any abnormality was detected before but without clinical significance, since the disease is progressive and may progress more rapidly in some patients than in others.

Adolescent↗
PubMed1988

[Multiple lentigines syndrome or leopard syndrome. Presentation of a clinical case].

Multiple lentigenes syndrome is a complex genetic dermatosis with dominant autosomal transmission an varying degrees of penetration first described in 1969. Apart from disseminated lentigenes at least two of the following are present: cardiac and neurosensory alterations, cervicofacial genitourinary and endocrinological dysmorphias, retarded growth and other skin conditions. MLS has also been called LEOPARD syndrome (Gorlin et al. 1969), thus being an acronym that memorizes the various anomalies involved: L = lentigines, E = ECG anomalies, O = ocular hypertelorism, P = pulmonary stenosis, A = anomalies of the genital organs, R = retarded growth, D = deafness. The clinical and diagnostic aspects of MLS are critically analysed and the case of a woman with the syndrome admitted to San Camillo Hospital, Rome is examined.

Abnormalities, Multiple↗
PubMed1976

Cardio-cutaneous syndrome (the "LEOPARD" syndrome). Review of the literature and a new family.

Numerous reports of familial cardiac disorders associated with abnormalities of cutaneous pigmentation have appeared in the literature. In some of these there have been other somatic malformations including retardation of growth and anomalous development of the genitalia. In this paper we review the literature and describe another family with multiple lentigines occurring in six members out of eight examined. They were reported to occur in 10 other members not seen by us. The trait showed an autosomal dominant mode of inheritance and appeared to be transmitted by affected fathers. In previous reports transmission has usually been through an affected mother. In five of the six patients examined, only skin abnormalities were detected, but in the propositus the lentigines were associated with retardation of growth, hypertelorism, abnormal genitalia and complete atrioventricular block. The possible explanations for the lack of pleomorphy in other members of the family are discussed.

Adolescent↗
PubMed2001

Leopard syndrome.

The Leopard syndrome is a complex of multisystemic congenital abnormalities characterised by lentiginosis, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth and deafness (sensorineural). Hypertrophic cardiomyopathy, though not included in the mnemonic, is often associated. Although the Leopard syndrome is rare, it is important to recognise it since it can be associated with serious cardiac disease. It is advisable to follow up patients with Leopard syndrome for new onset of cardiac abnormalities and to monitor the progression of existing cardiac disease. We present a case report and review of the literature of this syndrome.

Abnormalities, Multiple↗
PubMed1996

Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome.

Multiple lentigines (LEOPARD) syndrome has been delineated as an autosomal dominant disorder with lentigines, cardiac abnormalities, variable mental retardation, and typical craniofacial features as the most characteristic findings. LEOPARD syndrome shows a great clinical overlap with neurofibromatosis type 1 (NF1). In this report we describe a de novo missense mutation (M 1035R) in exon 18 of the NF1 gene in a young woman with a prior diagnosis of LEOPARD syndrome. We hypothesize that some patients now diagnosed with LEOPARD syndrome have in fact a mutation in the NF1 gene, whereas in other patients with LEOPARD syndrome, a different gene might be involved.

Abnormalities, Multiple↗
PubMed1995

Diffuse lentiginosis in a patient with Werner's syndrome--a possible association with incomplete leopard syndrome.

A classical case of Werner's syndrome is described. In addition to the numerous skin changes that are typically associated with Werner's syndrome, our patients also displayed diffuse lentiginosis, and several of the clinical features of leopard syndrome. Histopathological and ultrastructural findings from a hyperpigmented macule displayed the typical features of a simple lentigo. A striking feature was the presence of melanosomes in Langerhans cells as has been reported in the leopard syndrome. A possible generalized mesodermal defect has been suggested in Werner's syndrome, while the basic defect in the leopard syndrome is thought to be of neuroectodermal origin with pleiotropic changes in the organs derived from the mesoderm. Our patient, with incomplete leopard syndrome and typical Werner's syndrome, may be an example of an association of genetic defects affecting both tissues of neuroectodermal and mesodermal origin.

Humans↗
PubMedDate not supplied

Pigmentary anomalies in the multiple lentigines syndrome: Is it distinct from LEOPARD syndrome?

We observed 2 families with 26 individuals affected by multiple lentigines syndrome (MLS). All patients had extensive generalized lentigines, including in the axillary and inguinal regions, diffuse hyperpigmentation, hypopigmented patches, and hyperpigmented patches, many of which appeared clinically to be cafe au lait spots. Multiple lentigines syndrome should be considered in the differential diagnosis of multiple cafe au lait spots in children, particularly since the spots are usually present before the lentigines develop and may be clinically indistinguishable from the cafe au lait spots of neurofibromatosis. No significant noncutaneous features occurred in the two families with three generations of affected individuals, suggesting that MLS is a distinct entity. However, patients with the noncutaneous abnormalities of the LEOPARD syndrome have been described in families in which most members had pigmentary lesions only. Therefore, patients with multiple lentigines should be evaluated for noncutaneous abnormalities, particularly hearing loss and cardiac anomalies. Similarly, until investigators demonstrate lack of genetic linkage between MLS and LEOPARD syndrome, genetic counseling of patients affected by the cutaneous features of the former should include the potential for noncutaneous features in offspring.

Adult↗