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CASE REPORT
Novel clinical phenotype of generalised lymphatic dysplasia in a neonate: a missed diagnosis
  1. Thangaraj Abiramalatha1,
  2. Thanka Johnson2,
  3. Umamaheswari Balakrishnan1 and
  4. Prakash Amboiram1
  1. 1 Neonatology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
  2. 2 Pathology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
  1. Correspondence to Dr Prakash Amboiram, scopesrmc{at}gmail.com

Abstract

We report a preterm neonate who had a large cervical cystic hygroma and right chylothorax. She was operated on day-21 and a near-complete resection of cystic hygroma was done. She developed refractory hypoxemia and shock post surgery and died after 24 hours. During autopsy, the chest cavity was found to be filled with chyle. Histopathological examination showed dilated lymphatics in the pleura, hepatic capsule, serosa of stomach and intestines, peri-pancreatic regions, peri-renal capsule and peri-adrenal tissues suggestive of generalised lymphatic dysplasia. Clinical exome sequencing did not reveal any pathogenic mutation in the genes involved in primary lymphatic dysplasia, noonan syndrome or rasopathies.

  • Neonatal intensive care
  • congenital disorders
  • neonatal health
  • paediatric surgery
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Footnotes

  • Contributors TA: drafting the manuscript, literature review and patient management. TJ: literature search, editing the manuscript and managing the patient. UB: literature search, editing the manuscript and managing the patient. PA: revising the article critically for important intellectual content and managing the patient. He will be the guarantor. All authors approved the final version of manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Parental/guardian consent obtained.

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