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Novel clinical phenotype of generalised lymphatic dysplasia in a neonate: a missed diagnosis
- Source :
- BMJ Case Rep
- Publication Year :
- 2019
- Publisher :
- BMJ, 2019.
-
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.
- Subjects :
- 0301 basic medicine
Pathology
medicine.medical_specialty
Chyle
Autopsy
030105 genetics & heredity
Chylothorax
Craniofacial Abnormalities
03 medical and health sciences
Fatal Outcome
0302 clinical medicine
medicine
Humans
Lymphedema
Diagnostic Errors
Spinal Neoplasms
business.industry
Stomach
Infant, Newborn
Cystic hygroma
General Medicine
medicine.disease
Phenotype
Lymphatic system
medicine.anatomical_structure
Dysplasia
Cervical Vertebrae
Noonan syndrome
Female
Lymphangioma, Cystic
Learning from Errors
business
Lymphangiectasis, Intestinal
Infant, Premature
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 1757790X
- Volume :
- 12
- Database :
- OpenAIRE
- Journal :
- BMJ Case Reports
- Accession number :
- edsair.doi.dedup.....ae645b1d0c2a0fd54182682610b174c4
- Full Text :
- https://doi.org/10.1136/bcr-2019-229260