Massive pericardial effusion and cardiac tamponade revealed undiagnosed Turner syndrome: a case report

Background Patients with Turner syndrome (TS) are prone to autoimmune disorders. Although most patients with TS are diagnosed at younger ages, delayed diagnosis is not rare. Case presentation A 31-year-old woman was presented with facial edema, chest tightness and dyspnea. She had primary amenorrhea. Physical examination revealed short stature, dry skin and coarse hair. Periorbital edema with puffy eyelids were also noticed with mild goiter. Bilateral cardiac enlargement, distant heart sounds and pulsus paradoxus, in combination with hepatomegaly and jugular venous distention were observed. Her hircus and pubic hair was absent. The development of her breast was at 1st tanner period and gynecological examination revealed infantile vulva. Echocardiography suggested massive pericardial effusion. She was diagnosed with cardiac tamponade based on low systolic pressure, decreased pulse pressure and pulsus paradoxus. Pericardiocentesis was performed. Thyroid function test and thyroid ultrasound indicated Hashimoto’s thyroiditis and severe hypothyroidism. Sex hormone test revealed hypergonadotropin hypogonadism. Further karyotyping revealed a karyotype of 45, X [21]/46, X, i(X) (q10) [29] and she was diagnosed with mosaic + variant type of TS. L-T4 supplement, estrogen therapy, and antiosteoporosis treatment was initiated. Euthyroidism and complete resolution of the pericardial effusion was obtained within 2 months. Conclusion Hypothyroidism should be considered in the patients with pericardial effusion. The association between autoimmune thyroid diseases and TS should be kept in mind. Both congenital and acquired cardiovascular diseases should be screened in patients with TS.

Oximetry-detected pulsus paradoxus predicts for severity in paediatric asthma

ObjectiveTo evaluate if qualitative visual detection of pulsus paradoxus (PP) on the pulse oximeter plethysmograph can predict outcomes for children with moderate to severe respiratory distress in a paediatric emergency department (ED).DesignProspective cohort study.SettingPaediatric ED of a tertiary paediatrics hospital in Singapore.PatientsChildren managed for moderate to severe wheezing in the resuscitation bay of the ED.InterventionsPatients were assessed for the presence of PP based on visual detection of oximeter plethysmograph before and after initial inhaled bronchodilator therapy.Main outcome measuresThese include the need for adjunct medications such as aminophylline or magnesium sulfate, the need for supplementary ventilation and the need for admission to the high dependency unit (HDU) or intensive care unit (ICU).ResultsThere were 285 patients included in the study, of whom 78 (27.4%) had PP at ED presentation. There were 40 (14.0%) who had PP after initial management. Children who had PP after initial management had significantly relative risks (RR) of requiring adjunct medications (RR 12.5, 95% CI 4.0 to 38.6), need for supplementary ventilation (RR 5.6, 95% CI 1.2 to 26.5) and admission to the HDU/ICU (RR 5.6, 95% CI 3.0 to 10.4).ConclusionQualitative detection of PP on pulse oximetry can be used as a potential point-of-care tool to help in the assessment of response to initial treatment in paediatric patients with acute moderate to severe asthma exacerbations. Future studies are needed to assess and validate its role in guiding ED management of acute paediatric asthma.