Progressive edema leading to pleural effusions in a female with a ring chromosome 22 leading to a 22q13 deletion

McGaughran, Julie, Hadwen, Thomas and Clark, Ron (2010) Progressive edema leading to pleural effusions in a female with a ring chromosome 22 leading to a 22q13 deletion. Clinical Dysmorphology, 19 1: 28-29. doi:10.1097/MCD.0b013e3283301f58


Author McGaughran, Julie
Hadwen, Thomas
Clark, Ron
Title Progressive edema leading to pleural effusions in a female with a ring chromosome 22 leading to a 22q13 deletion
Journal name Clinical Dysmorphology   Check publisher's open access policy
ISSN 0962-8827
1473-5717
Publication date 2010-01-01
Sub-type Article (original research)
DOI 10.1097/MCD.0b013e3283301f58
Open Access Status Not Open Access
Volume 19
Issue 1
Start page 28
End page 29
Total pages 2
Place of publication Philadelphia, PA, United States
Publisher Lippincott Williams & Wilkins
Language eng
Abstract We present a 16-year-old girl with a 22q13 deletion who has a history of worsening lymphedema. She developed edema affecting her left toe at the age of 18 months. It progressed to her ankle by age 2 years. There was progression to bilateral edema up to both knees which remained stable from age 5 to 10 years. Ascites developed at age 11 years 10 months. Drainage of the ascitic fluid was required and on the first occasion, 3 l of chyle was removed. Over the next 2 years, a further six drainages were performed for symptom control. A low fat diet with medium chain triglyceride oil was introduced and helped to achieve a reduction in the rate of accumulation. A small right pleural effusion was noted at 13 years 9 months and over the 11 months from when she was 14 years 3 months, 17 drainages of the pleural effusions were required, initially every 1–2 months but the required frequency increased until it was needed every week. At age 16.5 years, right thoroscopic pleurectomy with talc insufflation was performed. To date, although there has been a good outcome given the progressive nature of her problem, there is concern about potential recurrence of chylous edema at another site
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Faculty of Health and Behavioural Sciences -- Publications
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