ABSTRACT
El síndrome de Costello es una enfermedad congénita y multisistémica, extremadamente rara; se describen en la literatura alrededor de 250 casos. Se plantea que el patrón de herencia es autosómico dominante, aunque muchos de los casos son esporádicos, sugiriendo una mutación dominante de novo. Se presenta el caso de un paciente masculino de siete años de edad, natural del municipio Frank País, Holguín, con manifestaciones clínicas compatibles con el diagnóstico de síndrome de Costello. Se realizó estudio y descripción clínica del hábito externo, detectándose como principales rasgos distintivos: fenotipo pseudotesaurismótico, déficit del crecimiento, cardiopatía congénita, facies grotesca, retardo mental y personalidad humorística. El diagnóstico precoz de este síndrome, hace posible la estimulación e intervención temprana, la búsqueda activa de lesiones tumorales, así como ofrecer asesoramiento genético a los padres.
Costello syndrome is an extremely rare multisystem congenital disorder; only about 250 cases have been described in the literature. Its inheritance pattern is considered to be autosomal dominant, although most cases are sporadic, suggesting de novo dominant mutations. The case of a 7-year-old patient from the Frank País municipality in Holguín with clinical manifestations consistent with Costello syndrome is presented. The clinical study and description of his physical characteristics were performed, detecting as main distinctive features: storage disease-like phenotype, failure to thrive, congenital heart disease, coarse facies, mental retardation and humorous personality. Early diagnosis allows early stimulation and intervention, active screening for tumor lesions, as well as provision of genetic counselling to patients.
ABSTRACT
Este estudo objetivou caracterizar as habilidades funcionais e o desempenho motor de uma criança de cinco anos de idade com Síndrome de Costello (SC), classificada no nível III quanto ao Gross Motor Function Classification System (GMFCS). As avaliações foram realizadas no Núcleo Educacional e Terapêutico Vida em Movimento, Paulinia, SP. Para avaliar as habilidades funcionais da criança empregou-se o Pediatric Evaluation Disability Inventory (PEDI,) e para avaliar o desempenho motor aplicou-se o Gross Motor Function Measure (GMFM). Quanto as habilidades funcionais avaliadas, a criança apresentou melhor desempenho na área de função social: 24 (36,9%); quanto ao desempenho motor, obteve melhor desempenho nas dimensões A (deitar e rolar): 42 (82,3%) e B (sentar): 40 (66,6%). Tais avaliações são confirmadas por sua classificação no nível III do GMFCS, caracterizada pelo controle nas posturas sentada e de pé e pela deambulação com auxilio de suporte.
This study aimed at characterizing functional abilities and motor performance of a five-year-old child with Costello Syndrome (CS), classified as level III in Gross Motor Function Classification System (GMFCS). Evaluations were performed at the Núcleo Educacional e Terapêutico Vida em Movimento, Paulínia, SP. The Pediatric Evaluation Disability Inventory (PEDI) was used to evaluate child's functional abilities and the Gross Motor Function Measure (GMFM) was applied to evaluate the motor performance. According to the functional abilities, the child performed better in social function area: 24 (36.9%); according to the motor performance, she performed better in dimensions A (lie down and roll): 42 (82.3%) and B (sit down): 40 (66.6%). These evaluations are confirmed by the child's classification at level III in GMFCS, characterized by the seated and standing postures control and by walking with some aiding support.