Background: Lowe syndrome is a rare disease characterized by the association of congenital cataract, hypotonia, followed by global psychomotor delay and intellectual disability, as well as progressive renal dysfunction, and renal failure occurring at around 20 years of age.
Case Presentation: We discuss the case of a male fetus diagnosed with isolated bilateral cataract on the sonography performed at 21 + 5 weeks of gestation, confirmed by a fetal MRI at 23 weeks of gestation.After ruling out infectious etiologies, a genetic consult was conducted at 26 weeks of gestation, and an amniocentesis was realized to search for a chromosomal cause, Norrie's disease and Lowe syndrome by Sanger analysis.
Eur J Obstet Gynecol Reprod Biol
August 2011
Necrotising fasciitis (NF) is the most aggressive form of soft tissue infection. We report the first case of NF of the breast following a core needle biopsy. Aggressive management including surgical debridement and vacuum therapy allowed wound healing and breast conservation.
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