ABSTRACT
El propósito del presente caso clínico es proponer una estrategia diagnóstica desde el paradigma de la función, se describe el caso de una niña portadora del síndrome de Prader - Willi que en el transcurso de su hospitalización se deriva al servicio de kinesiterapia para su control respiratorio, agregadamente se realiza la aplicación de pruebas funcionales, con el fin de conocer su perfil físico lo cual a juicio de los autores demuestra la necesidad de implementar una conducta.
This article describe the Prader - Willi syndrome in a girl in her hospitalization, her evaluations include physiotherapist. Agreguement the experience functionals test are not applied in the traditionally way in the utility diagnosis of physical therapy.
Subject(s)
Humans , Female , Child , Prader-Willi Syndrome/diagnosis , Prader-Willi Syndrome/physiopathologyABSTRACT
The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are human neurogenetic disorders involving the imprinting mechanism, at the 15q11-13 chromosome region. The predominant genetic defects in PW are 15q11-13 deletions of paternal origin and maternal chromosome 15 uniparental disomy. In contrast, maternal deletions and paternal chromosome 15 uniparental disomy are associated with a different neurogenetic disorder, the AS. In both disorders, these mutations are associated with parent-of-origin specific methylation at several 15q11-13 loci. We studied 5 patients suspect of PWS and 4 patients suspect of AS who were referred to the Medical Genetics Unit at the Universsity Hospital of Medical School from Ribeirao Preto. Our objective was to establish the correct clinical and etiological diagnosis in these cases. We used conventional cytogenetics, methylation analysis with the probe KB17 (CpG island of the SNRPN gene) by Southern blotting after digestion with the Xba I and Not I restriction enzymes. We studied in patients and their parents the segregation of the (CA)(n) repeats polymorphisms by PCR, using the primers 196 and IR4-3R. All the patients had normal conventional cytogenetical analysis. We confirmed 3 cases of PWS: one by de novo deletion, one by maternal chromosome 15 uniparental disomy and one case with no defined cause determined by the used primers. We confirmed 2 cases of AS, caused by de novo deletion at the 15q11-13 region, and one case with normal molecular analysis but with strong clinical characteristics.
Subject(s)
Child , Child, Preschool , Female , Humans , Adolescent , Angelman Syndrome/genetics , Angelman Syndrome/physiopathology , Prader-Willi Syndrome/genetics , Prader-Willi Syndrome/physiopathology , Blotting, Southern , Cytogenetics , Molecular Biology , Neurologic Examination , Polymerase Chain ReactionSubject(s)
Humans , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Clinical Diagnosis , Prader-Willi Syndrome/diagnosis , Chromosome Aberrations , Chromosomes, Human, Pair 15/genetics , Genomic Imprinting/genetics , Obesity/diet therapy , Obesity/drug therapy , Polymorphism, Restriction Fragment Length , Prader-Willi Syndrome/physiopathology , Prader-Willi Syndrome/genetics , Prader-Willi Syndrome/therapy , Signs and SymptomsABSTRACT
Se presenta la evolución de un niño (desde los 2 a los 9 años de edad) portador de un síndrome de Prader-Willi (hipotonía, hipogonadismo, retraso mental y obesidad). Presentó además ausencia de testículos en las bolsas, rubicundez de dorso de manos e hipotiroidismo. Fue tratado con opoterapia tiroidea con discreta mejoria clínica. En la actualidad persiste la obesidade de muy difícil resolución y la ectopia testicular, cuya cirugía no es aconsejable por el momento