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Master's Dissertation
DOI
Document
Author
Full name
Mariana Scheiner Dianesi
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2018
Supervisor
Committee
Koiffmann, Celia Priszkulnik (President)
Gollop, Thomaz Rafael
Kim, Chong Ae
Title in Portuguese
Diagnóstico precoce da sí­ndrome de Prader-Willi em neonatos hipotônicos
Keywords in Portuguese
1. Diagnóstico precoce
2. Hipotonia
3. Neonato
4. Síndrome de Prader-Willi
Abstract in Portuguese
A síndrome de Prader-Willi é uma desordem complexa neurogenética associada a três mecanismos genéticos distintos: deleção paterna da região 15q11-q13, dissomia uniparental materna do cromossomo 15 e defeitos no centro de imprinting genômico. As principais características da síndrome na primeira fase são a hipotonia de causa desconhecida em neonatos, dismorfismos, dificuldades de alimentação e hipogonadismo. O principal objetivo deste trabalho foi identificar portadores da síndrome de Prader-Willi em neonatos (pacientes com até 28 dias de vida) que apresentaram hipotonia neonatal em maternidades de São Paulo. Neste estudo foram analisados por teste de metilação dois pacientes com suspeita da síndrome de Prader-Willi que apresentavam os requisitos de inclusão do trabalho. Para que o teste fosse feito de maneira menos invasiva possível foi realizada a coleta de saliva dos pacientes por swab de bochecha, para extração de DNA. Em um período de um ano, foi confirmada a síndrome em um paciente do grupo. Mesmo com um número amostral reduzido já esperado pelo curto período de coleta, foi diagnosticado um caso precocemente, o que reforça a importância da inclusão da pesquisa para a síndrome de Prader-Willi no grupo de neonatos hipotônicos de causa desconhecida.
Title in English
Early diagnosis of Prader-Willi syndrome in hypotonic neonates
Keywords in English
1. Early diagnosis
2. Hypotonia
3. Newborn
4. Prader-Willi syndrome
Abstract in English
Prader-Willi syndrome is a complex neurogenetic disorder associated with three distinct genetic mechanisms. They are: the 15q11-q13 paternal deletion, maternal uniparental disomy of chromosome 15 and defects in the imprinting center. The main characteristics of the syndrome in the first phase are the hypotonia of unknown cause in neonates, dysmorphisms, feeding difficulties and hypogonadism. The main objective of this study was to identify neonates with Prader-Willi syndrome (patients up to 28 days old) that presented neonatal hypotonia. Two hospitals, Hospital das Clínicas da Faculdade de Medicina da Universidade São Paulo and Hospital Maternidade Amador Aguiar, collaborate with this investigation. In this study, two patients with hypotonia and poor suck satisfied the diagnostic criteria and were analyzed by methylation test. In order to make the test less invasive, saliva was collected from patients by swab. During a period of one year, the syndrome was confirmed in one patient in the group. Even with a reduced sample, already expected due to the short collection period, a case was early diagnosed, which reinforces the importance of including the genetic tests for Prader-Willi syndrome in the group of hypotonic neonates of unknown cause.
 
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Publishing Date
2019-06-06
 
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