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Down's syndrome and cardiac tamponade with pulmonary tuberculosis in adults

Indian Journal of Human Genetics
Medknow Publications
Publication Date
DOI: 10.4103/0971-6866.55219
  • Case Report
  • Biology
  • Medicine


Introduction A 20-year-old girl of Down's syndrome presented with Cardiac Tamponade and Pulmonary Tuberculosis (on CAT II) to our department. Literature survey, to the best of our knowledge, revealed that such a condition, in combination, has not been seen till now. Hence we report this case. Case Report A 20-year-old female was referred to us as with the history of recurrent bouts of cyanosis, abdominal swelling and pedal edema with Pulmonary Tuberculosis. Her mother was 40 and father 44 when she was born. Physical examination showed features of Down syndrome (Mongoloid slant of eyes, increased epicanthal distance, bulging forehead, flat occiput, low set ears, protruding tongue [Figure 1], simian crease [Figure 2], sandal gap in toe [Figure 3], protruding belly, hypotonia and mental retardation.) with a slow pulse rate, distant cardiac sounds and absent apex beat. She had normal jugular venous pressure without pulsus paradoxus. She had a history of anti-tuberculosis treatment for six months under CAT I RNTCP around one year back. Routine blood investigations were normal. Sputum for acid fast bacilli was positive two months back. Chest X-ray showed a tubercular lesion in left upper zone and mid zone with cardiomegaly without pulmonary venous congestion [Figure 4]. The ECG showed QRS microvoltage and flattened P and T segments. Her thyroid function test was normal. Her I.Q. was only 25, thereby classifying her as severe mental retardation (M.R). Ophthalmologic examination was normal. Karyotyping was done and it confirmed that it was a case of trisomy 21 [Figure 5]. On echocardiography, it was found that patient had pericardial effusion of tamponade physiology also. We advised pericardiocentesis but patient's attendants did not give consent for the procedure. She was started on diuretics to which she responded. She was discharged in stable condition on CAT II under RNTCP and diuretics. Figure 1 Photograph of patient showing typical facial fea

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