Prader Willi syndrome in a neonate with aspiration pneumonitis: a case report
DOI:
https://doi.org/10.18203/2349-3933.ijam20243069Keywords:
Aspiration pneumonia, Neonate, Prader Willi syndrome, Hypotonia, IndiaAbstract
Prader Willi syndrome (PWS) is a rare genetic disease, even rarely diagnosed in neonates. PWS in a neonate presents with central hypotonia and feeding difficulty. Hereby, we report first neonatal case from India, who presented with aspiration pneumonitis. This case is presented to understand the subtle clinical features of PWS in neonates to facilitate early diagnosis and early intervention which improves quality of life. A term neonate presented at 9 days of life with complain of choking while feeding followed by rapid breathing. Apart from severe respiratory distress general examination revealed facial dysmorphology and bilateral cryptorchidism with scrotal hypoplasia. There was marked central hypotonia and weak cry. A provisional diagnosis of PWS with aspiration pneumonia was made and karyotyping along with DNA methylation was sent. Positive DNA methylation confirmed our diagnosis. Baby was managed with i.v antibiotics and parents were given basic information about PWS. They were educated about feeding techniques to prevent choking spells and informed about multidisciplinary care that baby will require. Prader Willi Syndrome should be considered in differential diagnosis in neonate presenting with central hypotonia, feeding difficulties and prompt diagnostic DNA testing should be done for confirmation.
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References
Whittington JE, Holland AJ, Webb T, Butler J, Clarke D, Boer H. Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region. J Med Genet. 2001;38(11):792-8.
Prader A, Labhart A, Willi H. Ein syndrom von Adipositas, kleinwuchs, kryptochismus und ologophrenie nach myotonieartigem zustand in neugeborenalter. Schweiz Med Wochenschr 1956;86:1260-1.
Nicholls RD, Knoll JHM, Butler MG, Karam S, Lalande M. Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader Willi syndrome. Nature. 1989;342:281-5.
Cassidy SB. Prader-Willi syndrome. J Med Genet. 1997;34:917-23.
Aygun GM, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics. 2001;108(5):92.
Couper R. Prader Willi syndrome. J Paediatr Child Health. 1999;35(4):331-4.
Ciana G, Fertz MC, Pecile V, Demarini S. Premature birth with complicated perinatal course delaying diagnosis of Prader Willi syndrome. Case Reports in Pediatrics 2011;10:11-55.