Decoding enigma: Turner syndrome with ring chromosome
A 17-year-old female presented to us with anasarca developed over the past 2 months, which started with bipedal edema gradually developing into anasarca for the last 15 days associated with intermittent fever for the same. Tracing backward this patient had a history of progressive exertional breathlessness for the past 5 years and had a history of weakness of the right side of the body and facial deviation of angle of mouth to the left, which recovered spontaneously within 24 h, suggestive of transient ischemic attack (TIA), 1 month back. She also had developed jaundice throughout the last 2 weeks and orthopnea in the last 1 week.\nFever was associated with productive cough and expectoration. There was no history of rash, diarrhea, vomiting, joint pain, dysuria, hematemesis, melena, altered sensorium, renal failure or proteinuria. Her birth history was uneventful, developmental milestones were delayed along with poor scholastic performance and she didn’t achieve her menarche yet.\nOn examination, she had sinus tachycardia, pallor, fever with 100.8°F, anasarca, suffering from cardiogenic shock with a blood pressure of 70/40 mm of Hg, raised Jugular Venous Pressure (JVP) and poor capillary filling. Cardiological auscultation revealed a systolic murmur of grade III over the left parasternal area with loud P2; chest auscultation revealed basal crepitations. She was malnourished with stunted growth. There was no organomegaly or clubbing or any abnormal fundoscopic picture. The patient was resuscitated, vasopressors added, blood cultures sent, empirical intravenous antibiotics started and urgent echocardiography planned in accordance with the infective endocarditis protocol. Electrocardiogram showed sinus tachycardia with features of biatrial enlargement. Echocardiogram revealed levocardia with situs solitus; a 1.8 cm × 1.8-cm sized mass suggestive of thrombus within the left ventricular (LV) cavity near apex was found with dilated all four cardiac chambers with no evidence of vegetation. Global hypokinesia of LV, right ventricular free wall with left ventricular ejection fraction of 21% associated with severe tricuspid regurgitation and severe pulmonary arterial hypertension were found. No abnormalities were found in the aortic valve cusp or aortic root. ().\nGiven the working diagnosis of heart failure due to DCM with intracardiac thrombus, we started the patient on anticoagulation with low molecular weight heparin 20 unit subcutaneously twice daily. After initial stabilization, we searched for the underlying etiology behind this early DCM and intracardiac thrombus. Anti-Nuclear Antibody (ANA)-Hep2 and anticardiolipin, antibeta-2glycoprotein antibody was negative along with normal protein C, S values, which ruled out some common causes of the thrombotic phenomenon.\nOn detailed anthropometric analysis, she had short stature (height 125 cm), underweight (17.5 kg), upper segment:lower segment of 0.87 and arm span being 110 cm. Other notable findings were short fourth toe in the bilateral lower limb and low intelligence [Intelligence Quotient (IQ) 72 (borderline) as per Wechsler Adult Intelligence Scale (WAIS-IV) classification] []. There was a history of amenorrhea, associated with scanty axillary and pubic hairs and breast development showed tanner stage 1 with widely spaced nipples. She had a low posterior hairline with micrognathia, a webbed neck and cubitus valgus (). Hormonal assay revealed normal levels of estradiol (129 pg/ml), follicle-stimulating hormone (6.21 mIU/ml), luteinizing hormone (0.56 mIU/ml) and low insulin-like growth factor-1 level (102 pg/ml).\nThe skeletal survey revealed short fourth metacarpal and metatarsal in all four limbs. We had ruled out pseudohypoparathyroidism with normal serum calcium, phosphate and iPTH values along with the absence of other classical Albright’s hereditary osteodystrophy phenotype morphology (early obesity, round face, heterotopic calcification) and sent sample for karyotyping from the blood that showed a mosaic pattern, with 45, X/46, X,r(X)(p22.3q28); i.e. Turner syndrome karyotype with a very rare variety that is ring chromosome [] ().\nShe was treated for heart failure with reduced ejection fraction as per standard protocol conservatively, with subsequent anticoagulation. The patient was cured of intracardiac thrombi and congestive cardiac failure and finally was discharged with oral contraceptive pills for secondary sexual character development, iron-folic acid supplementation therapy for iron deficiency anemia, was put on dabigatran for 3 months and regular follow-up is being done periodically.