RESUMO
El síndrome de Sotos se caracteriza por sobrecrecimiento con facies peculiar, macrocefalia, talla alta y alteraciones del desarrollo psicomotor. Presentamos a un paciente de 20 meses de edad con diagnóstico confirmado por genética molecular con detección de mutación nonsense en el gen NSD1 no descrita previamente, exhibiendo cutis laxa como la característica fenotípica más llamativa en el periodo neonatal. Esta asociación se había descrito previamente en 3 pacientes con diagnóstico clínico de síndrome de Sotos sin diagnóstico molecular confirmatorio. En nuestro paciente, la presencia de cutis laxa llevó al diagnóstico diferencial con los defectos congénitos de glucosilación. En el seguimiento posnatal presentó una somatometría con perímetro cefálico y talla mayores de p97 (cercano a p50 al nacimiento), junto con el desarrollo de rasgos fenotípicos característicos del síndrome de Sotos durante los primeros meses de vida, los que proporcionaron la clave para el diagnóstico clínico y la investigación molecular (AU)
Sotos syndrome is an overgrowth condition characterized by facial gestalt, macrocephaly, excessive height, and different degrees of developmental delay. We report the case of a 20-month-old boy with a confirmatory molecular study, showing a novel nonsense mutation in NSD1 gene, presenting cutis laxa as the main phenotypic trait in the neonatal period. This association has been previously described in 3 patients with a clinical diagnosis of Sotos syndrome, without confirmatory molecular analysis. Our patient was tested for congenital disorders of glycosilation as part of the cutis laxa differential diagnosis. During the postnatal follow-up period the head circumference and height became greater than 97th percentile (having been close to the 50th in the newborn period). These facts and the progressive development of characteristic phenotypic features of Sotos syndrome during the first months of life gave us the clue for the clinical diagnosis and the molecular investigation (AU)
Assuntos
Humanos , Masculino , Recém-Nascido , Códon sem Sentido/genética , Cútis Laxa/genética , Transtornos do Crescimento/genética , Facies , Diagnóstico Diferencial , GlicosilaçãoRESUMO
Sotos syndrome is an overgrowth condition characterized by facial gestalt, macrocephaly, excessive height, and different degrees of developmental delay. We report the case of a 20-month-old boy with a confirmatory molecular study, showing a novel nonsense mutation in NSD1 gene, presenting cutis laxa as the main phenotypic trait in the neonatal period. This association has been previously described in 3 patients with a clinical diagnosis of Sotos syndrome, without confirmatory molecular analysis. Our patient was tested for congenital disorders of glycosilation as part of the cutis laxa differential diagnosis. During the postnatal follow-up period the head circumference and height became greater than 97(th) percentile (having been close to the 50(th) in the newborn period). These facts and the progressive development of characteristic phenotypic features of Sotos syndrome during the first months of life gave us the clue for the clinical diagnosis and the molecular investigation.
