ABSTRACT
Introduction: Cerebrospinal fluid (CSF) fistulas are a rare phenomenon, that can lead to life-threatening complications if left untreated. Presenting as rhinorrhea or otorrhea, they can be difficult to diagnose due to admixture of other bodily fluids. Typically, CSF fistulas develop after trauma, but in rare instances, they can be diagnosed in patients with a neoplastic lesion. Objective: To discuss several steps in diagnosing CSF fistulas. Patient: A fifty-year-old female with an intra-osseous temporal bone meningioma. Interventions: For diagnosing CSF admixture in fluids, two tests are looked into: beta-2 transferrin (ß2T) and beta-trace protein (ßTP) testing. Conclusion: Testing for ßTP is a highly sensitive, quick and non-invasive method to assess CSF admixture in middle ear effusion. Because of its lower cost, faster results and easy sample collection, ßTP testing has in our clinic replaced ß2T testing. The current case illustrates a rare etiology of a CSF fistula, where ß2T testing presumably showed false-negative results and ßTP testing showed true-positive results.
ABSTRACT
CONTEXT: Besides short stature and gonadal dysgenesis, Turner syndrome (TS) is associated with various abnormalities. Adults with TS have a reduced life expectancy, mainly related to structural abnormalities of the heart and aorta, and an increased risk of atherosclerosis. OBJECTIVE: Our objective was to investigate the yield of an initial standardized multidisciplinary screening in adult TS patients. DESIGN AND SETTING: This was an observational study at a multidisciplinary care unit for adult women with TS. PARTICIPANTS: Participants were adult women with TS (n = 150). Mean age was 31.0 ± 10.4 yr, with 47% karyotype 45,X. INTERVENTIONS: All women were consulted by an endocrinologist, a gynecologist, a cardiologist, an otorhinolaryngologist, and when indicated, a psychologist. The screening included magnetic resonance imaging of the heart and aorta, echocardiography, electrocardiogram, dual-energy x-ray absorptiometry, renal ultrasound, audiogram, and laboratory investigations according to international expert recommendations. MAIN OUTCOME MEASURES: New diagnoses and prevalence of TS-associated morbidity were evaluated. RESULTS: Thirty percent of patients currently lacked medical follow-up, and 15% lacked estrogen replacement therapy in the recent last years. The following disorders were newly diagnosed: bicuspid aortic valve (n = 13), coarctation of the aorta (n = 9), elongation of the transverse aortic arch (n = 27), dilation of the aorta (n = 34), osteoporosis (n = 8), osteopenia (n = 56), renal abnormalities (n = 7), subclinical hypothyroidism (n = 33), celiac disease (n = 3), glucose intolerance (n = 12), dyslipidemia (n = 52), hypertension (n = 39), and hearing loss warranting a hearing aid (n = 8). Psychological consultation was needed in 23 cases. CONCLUSIONS: Standardized multidisciplinary evaluation of adult women with TS as advocated by expert opinion is effective and identifies significant morbidity. Girls with TS benefit from a careful transition to ongoing adult medical care.
