Year: 2024
Type: article
Study design: Case Report
Abstract: 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.
Authors: Shweta Singh, Reema Agarwal, B. D. Bhatia
Institution: Institute of Medical Sciences
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4403714245