My SciELO
Services on Demand
Journal
Article
Indicators
- Cited by SciELO
- Access statistics
Related links
- Cited by Google
- Similars in SciELO
- Similars in Google
Share
Pediatría Atención Primaria
Print version ISSN 1139-7632
Abstract
CANO DEL AGUILA, B; ORTIZ MOVILLA, R; IGLESIAS ESCALERA, G and MARTINEZ BADAS, I. Neonatal presentation of Prader-Willi syndrome: report of a case. Rev Pediatr Aten Primaria [online]. 2017, vol.19, n.74, pp.151-156. ISSN 1139-7632.
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 : Prader-Willi syndrome; Cryptorchidism; Neonatal hypotonia.