RESUMO
We present a 3-year old boy with Leopard syndrome. His clinical manifestations included a congenital bilateral sensorineural hearing loss. He underwent cochlear implantation on the right side at age 1 year and on the left side at age 1.5 years. The patient is doing very well and mainstreamed in a regular pre-school program with a teacher of the deaf and home based speech therapy. Bilateral cochlear implantation in the case of a child with Leopard syndrome can be successful.
Assuntos
Implante Coclear , Perda Auditiva Bilateral/reabilitação , Perda Auditiva Neurossensorial/reabilitação , Síndrome LEOPARD/reabilitação , Pré-Escolar , Implantes Cocleares , Perda Auditiva Bilateral/etiologia , Perda Auditiva Neurossensorial/etiologia , Humanos , Síndrome LEOPARD/complicações , Inclusão Escolar , Masculino , Pessoas com Deficiência Auditiva , Fala , Percepção da Fala , FonoterapiaAssuntos
Síndrome LEOPARD/diagnóstico , Adolescente , Substituição de Aminoácidos , Cromossomos Humanos Par 12/genética , Implante Coclear , Cisteína/genética , Análise Mutacional de DNA , Surdez/diagnóstico , Surdez/genética , Surdez/reabilitação , Diagnóstico Diferencial , Éxons/genética , Feminino , Humanos , Síndrome LEOPARD/genética , Síndrome LEOPARD/reabilitação , Mutação Puntual , Proteína Tirosina Fosfatase não Receptora Tipo 12 , Tirosina/genéticaRESUMO
The rare multiple lentigines (LEOPARD) syndrome represents a complex of skin, cardiac, skeletal, inner ear and other malformations. There is marked variability in expression of the syndrome. We report on a 20 year old man, showing typical lentiginosis, a retardation of growth, tachycardiac conduction abnormality, ophthalmologic manifestations and a sensorineural hearing loss. Pathogenesis, clinical and differential diagnostic aspects are discussed in this case report. The early diagnosis of a senosorineural hearing loss is useful in order to provide appropriate rehabilitation. When lentiginosis is diagnosed, it is important to consider further abnormalities such as cardiomyopathy, which can be associated with a high mortality.