A 14-year-old boy presented to us with fever, weight loss, and progressive dyspnea for 2 months. At a peripheral clinic, he was found to have pleural effusion. After 1 month, he was referred to our hospital due to the lack of response, worsening dyspnea associated with new-onset orthopnea, and paroxysmal nocturnal dyspnea (PND). On arrival, he had tachypnea, tachycardia, hypotension, and pulsus paradoxus (16 mmHg). Jugular venous pressure was elevated with prominent x descent and absent y descent, the Kussmaul sign was absent, and the first and second heart sounds were muffled. There were few basal crepitations. These clinical features predominantly suggested cardiac tamponade.
Relevant blood investigations revealed elevated total leukocyte count (12,000/mm3) and N-terminal pro-brain natriuretic peptide (NT pro-BNP) level (1255 pg/ml). Chest X-ray revealed an enlarged cardiac silhouette with evidence of pulmonary venous hypertension and bilateral mild pleural effusion. Electrocardiography revealed sinus tachycardia with T inversions in leads V2-V6, II, III, and aVF. Transthoracic echocardiography (TTE) revealed a large pericardial effusion with more than 25% variation of mitral E velocity with respiration and the diastolic collapse of right ventricular outflow tract suggestive of cardiac tamponade. No features suggestive of restrictive physiology were detected. Immediate pericardiocentesis of 1.2 L hemorrhagic fluid improved his hemodynamics, but the PND persisted pointing toward possible myocardial disease.
The pericardial fluid analysis revealed an exudative effusion with adenosine deaminase level of 16.8 IU/L, while the smear for acid-fast bacilli and Gene Xpert for tuberculosis were negative. Pericardial fluid cytology showed a discrete population of atypical lymphoid cells, 1.5-2.5 times the size of mature lymphocytes with opened up chromatin, high nuclear: cytoplasmic ratio, and scanty cytoplasm. In immunohistochemistry, cluster of differentiation (CD) 45 positive cells were gated. Of these, 98% were CD 3, CD 5, CD 43, and CD 38 positive. These cells showed dual positivity for CD 4 and CD 8, negative for CD 19, CD 20, CD 34, CD 23, and no light chain reaction was noted. All these features suggested T-cell lymphoblastic lymphoma (T-LBL).
A repeat 2D TTE after complete pericardiocentesis showed bi-atrial enlargement, biventricular wall thickening [Figure 1a], Grade III diastolic dysfunction (septal e' was 5.9 cm/s, E/A was 2.7 and E/e' was 15), and left ventricular ejection fraction of 55% suggestive of RCM [Figure 2a-c], possibly due to infiltration by tumor cells. Inferior vena cava was dilated and noncollapsible. A visible echogenic ring-like encasement of the ascending aorta, descending thoracic aorta, main pulmonary artery, and proximal segment of its branches indicated tumor infiltration [Figures 1b-d, 2d and Supplementary Videos 1 and 2].
Contrast-enhanced computed tomography (CT) scan of the chest [Figure 3] revealed ill-defined sheet-like multi-compartmental soft-tissue lesions in the anterior mediastinum, insinuating between the great vessels and middle mediastinum. There was a pericardial extension of the lesion on the right anterior aspect of the mediastinum with moderate pericardial effusion. The lesion was also seen encasing great vessels. Inferior vena cava and hepatic veins were dilated with reflux of contrast.
Bone marrow examination revealed no involvement. After confirming the diagnosis of T-LBL, he was started on chemotherapy with a modified BFM-2000 (Berlin Frankfurt Munster) protocol with vincristine, daunorubicin, and L-asparaginase along with a corticosteroid. Within 1 week of beginning the chemotherapy, his pericardial effusion resolved, and the pigtail drain was removed. Four days after, the second cycle of L-asparaginase, he developed focal seizures along with right hemiparesis. CT scan of the brain revealed left frontal lobe infarct with hemorrhagic transformation and subarachnoid hemorrhage suggestive of possible cerebral venous thrombosis. CT venography and angiography of intracranial vessels were unremarkable. Magnetic resonance imaging brain and further digital subtraction angiography of intracranial vessels could not be done. His seizure resolved and limb weakness completely resolved over 2 weeks. Due to a deterioration in his performance status, chemotherapy was de-escalated after discussion with the family. Despite the initial improvement, he succumbed to his illness 8 months later to severe community-acquired pneumonia.