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

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