Prader Willi syndrome in a neonate with aspiration pneumonitis: a case report

Authors

  • Shweta Singh Department of Pediatrics, Devanya Children’s Hospital, Varanasi, Uttar Pradesh, India
  • Reema Agarwal Department of Pediatrics, Sukh Sagar Medical College and Hospital, Jabalpur, Madhya Pradesh, India
  • B. D. Bhatia Department of Pediatrics, Heritage Institute of Medical Sciences, Varanasi, Uttar Pradesh, India

DOI:

https://doi.org/10.18203/2349-3933.ijam20243069

Keywords:

Aspiration pneumonia, Neonate, Prader Willi syndrome, Hypotonia, India

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.

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References

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Published

2024-10-24

How to Cite

Singh, S., Agarwal, R., & Bhatia, B. D. (2024). Prader Willi syndrome in a neonate with aspiration pneumonitis: a case report. International Journal of Advances in Medicine, 11(6), 618–620. https://doi.org/10.18203/2349-3933.ijam20243069