Lymphangiopathy in neurofibromatosis 1 manifesting with chylothorax, pericardial effusion, and leg edema

Abstract

BackgroundThis case report documents the affliction of the lymph vessels as a phenotypic feature of neurofibromatosis-1 (NF-1).MethodologyRoutine transthoracic echocardiography, computed tomography scan of the thorax, magnetic resonance angiography of the renal arteries, and conventional digital subtraction angiography were applied. Comprehensive NF-1 mutation analysis was carried out by fluorescence in situ hybridization analysis, long-range reverse transcriptase polymerase chain reaction, and multiple-ligation probe assay. All other investigations were performed using routine, well-established techniques.ResultsThe subject is a 34-year-old, half-Chinese male; NF-1 was suspected at age 15 years for the first time. His medical history included preterm birth, mild facial dysmorphism, “café au lait” spots, subcutaneous and paravertebral fibromas, multifocal tachycardia, atrial fibrillation, and heart failure in early infancy. Noncalcified bone fibromas in the femur and tibia were detected at age 8 years. Surgical right leg lengthening was carried out at age 11 years. Bilateral renal artery stenosis, stenosis and aneurysm of the superior mesenteric artery, and an infrarenal aortic stenosis were detected at age 15 years. Leg edema and ectasia of the basilar artery were diagnosed at age 18 years. After an episode with an erysipela at age 34 years, he developed pericardial and pleural effusion during a 4-month period. Stenosis of the left subclavian vein at the level of thoracic duct insertion was detected. After repeated pleural punctures, pleural effusion was interpreted as chylothorax. Reduction of lymph fluid production by diet and injection of talcum into the pleural cavity had a long-term beneficial effect on the chylothorax. Leg edema and chylothorax were attributed to affliction of the lymph vessels by the NF-1.DiscussionLymphangiopathy resulting in impaired lymph fluid flow and sequestration of lymph fluid into the pleural sinus and the legs may be a rare phenotypic feature of NF-1.

Successful Sirolimus Treatment for Recurrent Pericardial Effusion in a Large Cervicomediastinal Provisionally Unclassified Vascular Anomaly: A Case Report

“…There are reports of vascular malformations, mainly lymphatic, associated with recurrent pericardial effusion, but none of the pathologies included in the PUVA or treated with sirolimus. [14][15][16] However, the characteristics of the vascular anomaly described above make this a unique malformation, and we have not found similar reports to date. Probably in the coming years, as our knowledge of patho-genic and signaling pathways advances, we will be able to give a more precise name or classification to many of the entities we now call PUVA, since the genes that cause some of these disorders are known, but we do not know most of their mechanisms.…”

Tibial Dysplasia in Neurofibromatosis-1: A Rare Case Report and Review of Literature

“…Lifestyle illnesses such as hypertension, stroke, and heart disease are also common [ 1 ]. Localized overgrowth of bone and soft-tissue gives an elephantiasis-like appearance [ 3 ], which is also attributed to lymphadenopathies presenting as edema [ 6 ].…”

The Complexity of Pediatric Multifocal Atrial Tachycardia and Its Prognostic Factors

“…Therefore, the specific type of gene mutation in RASopathy with MAT in our study corresponds well to the report of Lin et al 18) However, since MAT and/or atrial tachycardia have recently been reported in neurofibromatosis or Noonan syndrome with mutations other than RAF1, MAT may not be a differential feature distinguishing Costello syndrome from other RASopathies. 19) 20) …”