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Síndrome de LEOPARD : caso clínico
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A síndrome de LEOPARD (LS, OMIM 151100) é uma doença genética autossómica dominante, causada maioritariamente pela mutação no gene PTPN11, com penetrância de 100% e expressividade variável. (1) LEOPARD é um acrónimo que designa as principais manifestações desta síndrome: Lentigos múltiplos (Lentigines); Defeitos na electro-condução cardíaca (ECG conduction abnormalities); Hipertelorismo ocular (Ocular Hypertelorism); Estenose da válvula pulmonar (Pulmonary stenosis); Anomalias Genitais (Abnormal genitalia); Atraso de crescimento (Retardation of growth) e surdez neurosensorial (sensorineural Deafness).(2)
O diagnóstico clínico de Síndrome de LEOPARD faz-se na presença dos critérios de Voron. (3). Devido à expressividade variável, e ao aparecimento de sintomas ao longo da vida, é muitas vezes difícil de se fazer um diagnóstico precoce, podendo neste caso o diagnóstico molecular ter um papel determinante. (Sarkozy et al., 2004)
Neste trabalho reportar-se-á um caso clínico, recolhido na consulta de Genética do Hospital de Santa Cruz, podendo este ter importância face à escassez de casos encontrados na literatura actual (cerca de 200 casos (5)). Tem como finalidade alertar para a importância do diagnóstico precoce, pois o doente poderá beneficiar de um seguimento atempado e personalizado face às complicações previsíveis desta síndrome. Isto poderá significar uma melhoria na qualidade de vida ou até um aumento da sobrevida face à característica potencialmente fatal desta síndrome, a miocardiopatia hipertrófica(4,5).
The LEOPARD syndrome (LS, OMIM 151100) is an autosomal dominant genetic condition, mainly caused by a mutation in PTPN11 gene, with 100% penetrance and variable expressivity. LEOPARD is an acronym that refers to the main features of this syndrome: multiple Lentigines; ECG conduction abnormalities; Ocular hypertelorism; Pulmonary stenosis; Abnormal genitalia; Retardation of growth and sensorineural Deafness) Voron proposed diagnostic criteria for LEOPARD syndrome clinical diagnosis. Due to the variable expressivity, and the appearance of symptoms during childhood, early diagnosis is often difficult, in which case the molecular diagnosis has a decisive role. In this paper I will report a clinical case, collected at Genetic counseling clinic at Hospital de Santa Cruz, which may be important due to the lack of cases found in the current literature (about 200 reports). This paper is intended to alert for the importance of early diagnosis, since the patient may benefit from a timely and personalized follow-up, given the predictable complications of this syndrome. This may have the ability to improve his quality of life or even increase his survival by being two steps ahead of the life threatening characteristic of this syndrome, hypertrophic cardiomyopathy.
The LEOPARD syndrome (LS, OMIM 151100) is an autosomal dominant genetic condition, mainly caused by a mutation in PTPN11 gene, with 100% penetrance and variable expressivity. LEOPARD is an acronym that refers to the main features of this syndrome: multiple Lentigines; ECG conduction abnormalities; Ocular hypertelorism; Pulmonary stenosis; Abnormal genitalia; Retardation of growth and sensorineural Deafness) Voron proposed diagnostic criteria for LEOPARD syndrome clinical diagnosis. Due to the variable expressivity, and the appearance of symptoms during childhood, early diagnosis is often difficult, in which case the molecular diagnosis has a decisive role. In this paper I will report a clinical case, collected at Genetic counseling clinic at Hospital de Santa Cruz, which may be important due to the lack of cases found in the current literature (about 200 reports). This paper is intended to alert for the importance of early diagnosis, since the patient may benefit from a timely and personalized follow-up, given the predictable complications of this syndrome. This may have the ability to improve his quality of life or even increase his survival by being two steps ahead of the life threatening characteristic of this syndrome, hypertrophic cardiomyopathy.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2015
Palavras-chave
Síndrome LEOPARD Genética