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Results for “LEOPARD Syndrome”

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At least 145 records · Page 8Linked to original sources
PubMed2005

A locus for familial generalized lentiginosis without systemic involvement maps to chromosome 4q21.1-q22.3.

Generalized lentiginosis (GL) is characterized by widespread lentigines without associated noncutaneous abnormalities. In this study we performed a genome-wide linkage search in a Chinese family with GL and localized the familial GL locus to chromosome 4q21.1-q22.3, with a maximum two-point LOD score of 3.01 for D4S395 and D4S423 at a recombination fraction of 0. Multipoint analysis (maximum LOD score of 5.08 between markers D4S395 and D4S1563) and haplotype construction showed strong evidence of linkage in a region of 20 Mb flanked by markers D4S2915 and D4S1560 on chromosome 4q21.1-q22.3. This is the first report of linkage for GL, and it will provide further insight into the controversy of whether GL is an entity distinct from LEOPARD syndrome.

China↗
PubMed1976

Lentiginosis profusa. III: Aesthetic and sanguineous aspects.

Lentiginosis profusa syndrome and progressive cardiomyopathic lentiginosis are preferable terms to "leopard syndrome". Considerable cosmetic improvement followed facial dermabrasion and light electrodesiccation of lentigines on the exposed surfaces. Hematologic evaluation did not reveal hematopoietic defect in the patient studied.

Adult↗
PubMed1994

[Keratoconus in Mulvihill-Smith syndrome].

BACKGROUND: The Mulvihill-Smith syndrome consists of a large number of stigmata. A few of them are also seen in the LEOPARD syndrome. In both syndromes keratoconus has not yet been reported. PATIENT: We present a twenty-year-old male patient suffering from keratoconus in connection with a Mulvihill-Smith syndrome. A keratoplasty à chaud was done after perforation of the corneal ulcer. CONCLUSION: As a major complication corneal graft rejection is known after keratoplasty à chaud. However, in our patient immunological graft failure may be prevented by the T-cell defect.

Abnormalities, Multiple↗
PubMed1985

Noonan syndrome: a review.

After an introduction dealing with the "historical evolution" of the Noonan syndrome (NS), we try to define the NS phenotype based on clinical descriptions published since 1883. The theories concerning the cause of the NS are discussed fully. The peculiar cardiac involvement deserves special attention and raises the question of whether the Watson and LEOPARD syndromes are indistinguishable from NS. Finally, the recent contributions to the variability of the NS phenotype (reports on lymphatic dysplasia, partial deficiency of factor XI, malignant hyperthermia, perceptual-motor disabilities, and endocrine evaluation) are also described.

Factor XI Deficiency↗
PubMed2006

Mutation screening of the PTPN11 gene in hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disease and a major cause of sudden death. It is an autosomal dominant disorder predominantly caused by mutations in genes encoding for sarcomeric proteins. Only 50-60% of HCM probands have mutations in known genes suggesting the presence of additional disease genes. Noonan and LEOPARD syndromes are characterised by multiple dysmorphia and cardiac defects with HCM present in approximately 20% of cases. Both syndromes are caused by mutations in the PTPN11 gene which codes for the protein tyrosine phosphatase SHP-2. It is suspected but unproven that the cardiac phenotype may predominate or even be present in isolation. In order to determine possible involvement of this gene in the pathogenesis of HCM, we performed mutation screening of the PTPN11 coding region in 250 selected HCM probands (200 patients without mutations in sarcomeric genes and 50 with identified mutations). No mutations in PTPN11 were identified. Our data suggests that mutations in the PTPN11 gene are not a cause of HCM in the absence of Noonan/LEOPARD syndromes.

Adult↗
PubMed2002

Clinical features of hypertrophic cardiomyopathy in the young.

BACKGROUND: We analysed the experience with hypertrophic cardiomyopathy in two paediatric centres to establish the differences from older patients. METHODS: Out of 45 young patients seen from 1974 to 1999, we included 38. Criterions for exclusion were secondary forms, or association with severe congenital cardiac disease which could alter the outcome. RESULTS: The patients presented at the age of 5.7 years, and were followed for 7.0 years. The 34 patients referred because of a murmur or cardiomegaly were older than the four with heart failure, presenting at 6.2 as opposed to 2.1 years of age, p = 0.08. Of the patients, 29 (76%) had primary cardiomyopathy, while 9 (24%) had secondary forms associated with Noonan's and LEOPARD syndromes. Familial tendency was ascertained in 7 patients (18%). The septal thickness in mm/m2 at presentation was greater in patients under 2 years than in older children (29 vs 18, p = 0.02). Obstructive hypertrophic cardiomyopathy was found in 17 patients (45%), with six of these having mild associated congenital cardiac defects. Nine had symptomatic arrhythmias. Overall, treatment was medical in 31, with DDD pacing used in 5, and surgery, radiofrequency ablation, and transplantation in one patient each. Total mortality was 24%, at a rate of 4.3% per year. Four patients died in heart failure and 5 had sudden death. Those in failure were significantly younger (p = 0.01). CONCLUSIONS: Hypertrophic cardiomyopathy in the young is characterized by referral for murmur or heart failure; frequent secondary forms; the obstructive variant being as common as the non-obstructive form; a mortality rate similar to that for adults attending tertiary centres; and less frequent familial forms than in older populations.

Adolescent↗
PubMedDate not supplied

Generalized lentiginosis in two children lacking systemic associations: case report and review of the literature.

Generalized lentigines associated with multiple noncutaneous features, as in the LEOPARD syndrome and the Carney complex, have been well reported in the literature. Reports of patients with generalized lentigines without systemic abnormalities (termed "generalized lentiginosis") are increasing as well. Despite the lack of systemic features, patients with generalized lentigines only should be monitored for further development of other noncutaneous features, especially cardiac anomalies. We present two patients with generalized lentiginosis and propose a working algorithm in the approach to a child with this finding.

Child↗
PubMed1983

The first Scottish "Leopard"?

Leopard Syndrome is a rare autosomal dominant condition affecting multiple systems. We report a 35-year-old woman with hypertrophic obstructive cardiomyopathy, pigmented naevi and growth retardation. We are unaware of previous cases reported in Scotland.

Adult↗
PubMed1991

[Disorders of the cardiovascular system in congenital lentiginosis].

The authors investigated during the last 10 years four patients with lentiginosis and affection of the heart. In none of them the symptoms were complete enough to include it under the leopard syndrome. In two patients the authors found changes in the outflow portion of the right ventricle which was in their opinion caused by hypertrophy of the interventricular septum and musculature of the right ventricle. The authors consider the term lentiginocardiomyopathic syndrome suitable for this rare clinical and genetic entity. The authors check patients with lentiginocardiomyopathic syndrome regularly after 6-month intervals. In two children they recorded progression of the heart disease.

Adolescent↗
PubMed1988

[Mucocutaneous lentiginosis, ephelides and cardiac myxoma].

Abnormalities of skin pigmentation are known to be associated sometimes with cardiovascular diseases. Such cases have been reported first in 1954 (14), then in 1962 (16) and 1966 (11), leading to the individualization of the leopard syndrome. In 1973 Rees et al. (21) described a lentiginosis, cardiac myxoma association, and this in turn resulted, in 1985, in a new syndrome (4) supported by several similar findings. We report here a new case with this association.

Adult↗
PubMed1979

Premature cataracts associated with generalized lentigo.

Generalized lentigo (leopard syndrome) is an autosomal dominant trait characterized by lentigo, sensorineural deafness, retarded growth (below 25%), ocular hypertelorism, mandibular prognathism, pectus carinatum or excavatum, dorsal kyphosis, winging of the scapulae, valvular pulmonary artery stenosis, electrocardiographic conduction defects, and genitourinary defects. Ocular evaluations of patients with generalized lentigo have revealed the appearance of multiple small white punctate and comma-shaped opacities in the cortex and nuclci of the lenses of affected patients. On the basis of age of the patients examined, it would seem that the corneal opacities first appear in the third decade. Although the opacities may be extensive, the lens opacities do not appear to impair visual function until approximately twenty years after they first appear.

Adolescent↗
PubMed1984

[Hypertrophic cardiomyopathy and lentiginosis].

A 21-year-old female patient with hypertrophic obstructive cardiomyopathy and lentiginosis is described. This entity is known to belong to the LEOPARD syndrome (L-entigines, E-electrocardiographic conduction defects, O-cular hypertelorism, P-ulmonary stenosis, A-bnormalities of genitalia, R-etardation of growth, sensorial D-eafness). The patient underwent surgery for severe obstruction of the left ventricular outflow tract; the postoperative follow-up was uneventful.

Adult↗
PubMed1983

[Generalized lentigo in a case of hypertrophic cardiomyopathy with right ventricular outflow tract obstruction].

A case was reported in which generalized lentigo was associated with hypertrophic cardiomyopathy and right ventricular outflow tract obstruction. A 34-year-old man was admitted to our hospital for cardiac evaluation. He had been noted to have a heart murmur since his childhood and had had a diagnosis of pulmonary stenosis in his high school age. Physical examination revealed precordial murmurs and numerous lentigines over his whole body surface including palms and soles. Two-dimensional and M-mode echocardiography disclosed asymmetric septal hypertrophy, systolic anterior motion of the mitral valve (SAM) and systolic semiclosure of both semilunar valves. A systolic turbulent flow was recorded at the outflow tracts of both ventricles by pulsed Doppler technique. Cardiac catheterization demonstrated a pressure gradient of 13 mmHg across the right ventricular outflow tract. We considered that the present case was an atypical LEOPARD syndrome with predominant right ventricular outflow tract obstruction which was precisely evaluated by noninvasive techniques.

Adult↗
PubMed1977

Congenital lentiginosis.

Because lentiginosis may be associated with multiple somatic anomalies (as in the "LEOPARD syndrome"), its recognition is important clinically. A case of lentiginosis detected in the neonatal period, without accompanying defects, is reported. The significance of histologic confirmation and the importance of searching for other abnormalities are discussed.

Humans↗
PubMed1986

'Leopard spot' retinopathy in Warburg syndrome.

A female infant with brain and muscle abnormalities characteristic of Warburg syndrome had an atypical retinal dysplasia which appeared clinically as a 'leopard spot' retinopathy. The retinal histology is described in detail and is remarkable for periodic thinning of the inner nuclear layers and for isolated rosettes in the periphery. We believe 'leopard spot' retinopathy is yet another ocular manifestation of the Warburg syndrome.

Abnormalities, Multiple↗