Síndrome LEOPARD sin sordera ni estenosis pulmonar: a propósito de 2 casos / LEOPARD Syndrome Without Hearing Loss or Pulmonary Stenosis: A Report of 2 Cases

RESUMEN

El síndrome LEOPARD es una enfermedad autosómica dominante producida por mutaciones germinales en la vía RAS-MAPK. El acrónimo agrupa las manifestaciones más importantes de la enfermedad (Lentiginosis, ECG conduction anomalies, Ocular hypertelorism/hypertrophic Obstructive cardiomyopathy, Pulmonary stenosis, Abnormalities of genitalia, growth Retardation and Deafness), pero ninguna de ellas es patognomónica ni constante, por lo que muchos pacientes no las presentan en el momento del diagnóstico. Presentamos 2 casos de síndrome LEOPARD sin sordera ni estenosis pulmonar en los que la detección de la mutación en el gen PTPN11 permitió confirmar la enfermedad, y señalamos la importancia del seguimiento continuado para la detección precoz de las complicaciones, ya que las mismas pueden aparecer en el transcurso de la enfermedad

ABSTRACT

LEOPARD syndrome is an autosomal dominant disease caused by germline mutations in the RAS-MAPK (mitogen-activated protein kinase) pathway. LEOPARD is an acronym for the main manifestations of the syndrome, namely, multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, and sensorineural Deafness. None of these characteristic features however, are pathognomonic of LEOPARD syndrome, and since they are highly variable, they are often not present at the time of diagnosis. We describe 2 cases of LEOPARD syndrome without hearing loss or pulmonary stenosis in which diagnosis was confirmed by identification of a mutation in the PTPN11 gene. Regular monitoring is important for the early detection of complications, as these can occur at any time during the course of disease