Vol. 19 - Num. 74
aMIR-Pediatría. Hospital Universitario Puerta de Hierro. Majadahonda. Madrid. España.
bUnidad de Neonatología. Servicio de Pediatría. Hospital Universitario Puerta de Hierro. Majadahonda. Madrid. España.
cServicio de Pediatría. Unidad de Neonatología. Hospital Universitario Puerta de Hierro. Majadahonda. Madrid. España.
Correspondence: B Cano. E-mail: firstname.lastname@example.org
Reference of this article: Cano del Águila B, Ortiz Movilla R, Iglesias Escalera G, Martínez Badás I. Neonatal presentation of Prader-Willi syndrome: report of a case. Rev Pediatr Aten Primaria. 2017;19:151-6.
Published in Internet: 05-06-2017 - Visits: 11270
Prader-Willi syndrome should be part of the differential diagnosis in cases of central neonatal hypotonia, especially when accompanied by other typical clinical features of the disease. The importance of an early diagnosis, either in hospital or in primary care center lies both in the need to establish an early care and nutritional support, which will improve the quality of life of patients suffering from this syndrome, and genetic counselling that should be made to parents of affected children to plan future pregnancies. We present the case of a new-born with neonatal hypotonia, bilateral cryptorchidism and peculiar phenotype, in which the suspected diagnosis of Prader-Willi syndrome was confirmed by genetic study. We also present a review of the etiology, phenotypic findings and clinical course over the stages of life, management and prognosis of the entity.
Keywords● Cryptorchidism ● Neonatal hypotonia ● Prader-Willi syndrome
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