A 26‐year‐old female, G4 P2012 presented for an anatomy scan at 18 weeks. Multiple macrocysts were seen in the left fetal lung, which lead to a diagnosis of congenital pulmonary airway malformation (CPAM) type II. A fetal MRI examination performed at 24 weeks of gestation confirmed the diagnosis of CPAM type II. A genetic amniocentesis was done to rule out a fetal chromosomal abnormality and the fetus was found to have mosaic Klinefelter syndrome. Fetal CPAM is not usually associated with chromosomal abnormalities unless there are other fetal malformations present. This is the first known case where a fetus with CPAM and no other malformation was found to have mosaic Klinefelter syndrome. Therefore, we believe it is prudent to offer prenatal diagnostic testing whenever a fetus with CPAM is identified with ultrasound.
A 45-year-old, G0P0 premenopausal woman was admitted for investigation of right lower quadrant pain, fever, leucocytosis and right adnexal abscess on CT. She was started on intravenous antibiotics and underwent CT-guided percutaneous drainage from which was cultured. A few days later, she had an exploratory laparotomy with incision and drainage. Once stabilised, she was discharged on intravenous antibiotics. She was followed outpatient and subsequent imaging demonstrated significant improvement of the abscess. After being asymptomatic for 3 months, she again presented to the emergency department with right lower quadrant abdominal pain, fever and leucocytosis. Two days later, she underwent total abdominal hysterectomy with bilateral salpingo-oophorectomy. She made a full recovery and began treatment with a herbal oestrogen derivative to prevent early menopause.
Objective:Rare disease Background:Adult Still's disease (ASD) is a rare systemic inflammatory condition, which commonly presents with the triad of quotidian fevers, rash, and non-specific rheumatologic symptoms such as myalgia and arthralgia. The etiology and pathogenesis are poorly understood and both the clinical presentation and laboratory data are typically nonspecific. As such, the presentation is often confused with infection, other autoimmune processes, and malignancy. Case Report:We present a case of a 29-year-old Hispanic female who presented with fever, sore throat, myalgia, and shortness of breath. Initially diagnosed with suspected pneumonia, extensive workup led to the final diagnosis of ASD due to the persistence of her symptoms, which met Yamaguchi Criteria, as well as exclusion of other possible etiologies.
Conclusions:ASD is a rare systemic inflammatory condition and its nonspecific presentation often leads to diagnostic delay and disease complications. We discuss the incidence, etiology, pathology, diagnosis, and standards in management of ASD. This case emphasizes the need for high clinical suspicion of ASD, and early exclusion of other etiologies, especially with failure of first-line treatment, to limit patient suffering and complications.
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