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Background

Central conducting lymphatic anomalies (CCLA) may cause chylous leaks and protein-losing enteropathy (PLE) owing to dysfunction of the central lymphatic channels. Most of the treatment strategies for these conditions are palliative and provide transient improvement.

Methods

We treated 14 patients with intractable chylous leak and/or PLE using a novel technique of lymphaticovenous bypass of the terminal portion of the thoracic duct. Chylous leaks occurred in multiple different anatomic sites. All patients had CCLA and failure of thoracic duct emptying demonstrated by preoperative intranodal lymphangiography.

Results

Five patients had complete resolution of symptoms, and two patients had partial improvement. There were no major complications. Of 5 patients with PLE, only one improved after lymphaticovenous bypass. Repeat traditional lymphangiography was performed in 4 patients who did not improve, demonstrating patency of the bypass in all cases with persistent sluggish drainage. One patient had repeat MR lymphangiography that did not show the thoracic duct well.

Conclusions

Bypass of the terminal thoracic duct is a novel procedure that offers improvement and a chance of cure for some patients with devastating manifestations of CCLA who lack other effective therapeutic options.

Level of evidence

IV.  相似文献   
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Background

Mutations in the PTEN gene cause two disorders that predispose to cancer, Bannayan–Riley–Ruvalcaba and Cowden syndromes. Some patients with a PTEN mutation have only macrocephaly and autism, but they may still be at risk for neoplasms. Vascular anomalies occur in patients with a PTEN mutation, but they have not been systematically studied or precisely defined.

Method

We analysed the clinical and radiological features of the vascular anomalies in 26 patients with PTEN mutations who were either seen or had their medical records reviewed at Children''s Hospital Boston.

Results

All 23 patients who had their head circumference measured were macrocephalic, and all 13 male patients who were fully examined had penile freckling. Vascular anomalies were found in 14/26 (54%) of patients: 8/14 (57%) had multiple lesions and 11/13 (85%) who had cross‐sectional imaging had intramuscular vascular lesions. Radiographic studies showed that 12/14 (86%) were fast‐flow vascular anomalies, and angiography typically showed focal segmental dilatation of draining veins. Excessive ectopic fat in the vascular anomalies was present in 11/12 (92%) of patients on CT or MRI. Intracranial developmental venous anomalies (DVAs) were found in 8/9 (89%) of patients who had brain MRI with contrast.

Conclusions

Vascular anomalies in patients with a PTEN mutation are typically multifocal intramuscular combinations of fast‐flow channels and ectopic fat. Cerebral DVAs are very common. PTEN mutational analysis should be considered for all macrocephalic patients with fast‐flow vascular anomalies or multiple intracranial DVAs.  相似文献   
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