Late diagnosis of generalized lymphangiomatosis in a woman presenting with respiratory distress

Abstract

Generalized lymphangiomatosis (GLA) is a rare lymphatic abnormality, mostly affects children and young individuals and can be a diagnostic challenge because of wide spectrum of clinical manifestations. A 26-year-old woman presented to the emergency department of our institution with respiratory distress and hypoxia. The patient reported similar episodes for the past 10 years without a definite diagnosis. The imaging study demonstrated findings suggestive of GLA with pulmonary, retroperitoneal and osseous involvements which was confirmed on pathological studies from a lung biopsy. A concise review of the clinical, imaging and pathological findings of GLA is provided in this study. A comprehensive history and physical examination, laboratory and pathological work up and imaging is required to make the diagnosis of GLA. The characteristic imaging findings play an essential role to rule out other possible diagnoses and raise the possibility of GLA.

Keywords: Chylothorax; Generalized Lymphangiomatosis; Lymphangioma; Lymphatic abnormality; Pulmonary lymphangiectasis.

Fig. 1

Chest radiograph shows mediastinal widening, patchy opacifications and increased reticular interstitial markings of both lung fields with Kerley B lines and pleural effusions.

Fig. 2

Axial postcontrast chest CT in lung (A) and soft tissue (B) windows demonstrate interlobular septal thickening, prominent peribronchovascular interstitium (A, arrows), and pleural effusions (B, arrows). Coronal postcontrast chest CT (C) show confluent cystic mediastinal masses enveloping mediastinal structures without compression effect (C, dotted arrows). Dilated lymphatic vessels are identified in the retroperitoneum on contrast enhanced axial abdominal CT (D, dotted arrows).

Fig. 3

Sagittal thoracic spine CT (A) and T1-weighted (B) and T2-weighted (C) MR images show loss of bone marrow signal with multiple lucent lesions (examples with arrows) throughout the thoracic spine.

Fig. 4

A Technetium-99 whole body bone scan on anterior (A) and posterior (B) views demonstrate multiple foci of abnormal increased radiotracer uptake throughout the spine, ribs and pelvic girdles (arrows).