Bacterial Overgrowth (Intraluminal Stasis) Any disease that causes stasis in the lumen of the small intestine can lead to bacterial overgrowth and small bowel dysfunction ( Box 43-1 ). Contrast material is ascending from the venous system rather than from the coiled vein. Other eponymous persistent embryonic veins have been detailed in the literature and are frequently seen in the setting of KTS (49). Tandem embolization therapy and surgical resection are similarly indicated for large malformations, with follow-up screening for recurrence. (e) Lateral skull radiograph shows dolichocephaly, with an increased anteroposterior diameter of the skull. The authors declare that there is no conflict of interests regarding the publication of this paper. Figure 6g. (f) Axial nonenhanced head CT image shows asymmetric widening of the external auditory meatus on the left. Genetic associations are already well established for some conditions including Weaver, Perlman, and Proteus syndromes [2]. The interconnectivity of these regulators and the associated limb overgrowth and vascular anomaly syndromes that occur as a result of gene mutations are outlined in Figure 1. (c–e) Gray-scale (c) and color Doppler (d) US images of the lesion (arrow in e) over the calf, and a conventional radiograph (e) were obtained in the 10-year-old girl. However, surgical resection of these malformations remains complicated because these anomalies generally involve the surrounding soft tissue and bone (36). A. Documentation regarding a patient’s deep venous system is important for planning treatment of KTS, and arteriography is used to rule out high-flow malformations, as these may reflect PWS with a KTS phenotype. Letícia da Silva Lacerda, Úrsula David Alves, José Fernando Cardona Zanier, Dequitier Carvalho Machado, Gustavo Bittencourt Camilo, Agnaldo José Lopes, "Differential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations", Radiology Research and Practice, vol. (b–d) Coronal T1-weighted MR image (b), proton density–weighted fat-saturated MR image (c), and dynamic gadobutrol-enhanced MR venogram (d) show a large enhancing lateral draining vein in the affected leg. The syndromes in red are discussed in this review. Figure 6h. A Madelung’s disease diagnosis is based on an ectoscopy as well as additional tests that rule out the skin, vascular, and bone changes present in other diseases [48]. Prior patency of a hypoplastic common femoral system was noted at pre-embolization venography (not shown). (g) Axial T2-weighted brain MR image shows periventricular cystic abnormalities and polymicrogyria, which are some of the diagnostic criteria for Proteus syndrome. New vascular findings in PIK3CA Related Overgrowth Syndrome: Rapidly progressive, inoperable hemangioma with associated AVM managed with stereotactic body radiotherapy 2019-10-21 13:03:00 Proteus syndrome in a 3-year-old girl. (e) Findings on the corresponding sagittal T2-weighted MR image confirm lipomatous overgrowth in the same region. AVMs associated with RASA1 mutations have a high recurrence rate and are treated only when the patient becomes symptomatic. (k, l) Digital subtraction angiograms of the lower extremity in the girl show the vascular malformation associated with FAVA in the gastrocnemius and soleus muscles and Achilles tendon (k) and show the lesion after alcohol embolization and sclerotherapy (l). Sclerotherapy is the treatment most commonly used to manage low-flow vascular malformations; however, embolization and sclerotherapy of superficial venous malformations and anomalous veins are contraindicated when the deep venous system is absent (47,53). Proteus syndrome in a 3-year-old girl. CLOVES syndrome in a 3-year-old boy. ide an update on the clinical features, complications, and management strategies for the PIK3CA-related overgrowth spectrum (PROS). Although genetic confirmation is necessary for a definitive diagnosis, the radiologist serves as a central figure in the identification and treatment of these disorders. (d) MR angiogram of the lower extremities shows an arterial blush adjacent to the larger-caliber superficial femoral artery and peroneal artery (arrows), consistent with high-flow malformations. (g, h) In the same girl, note the high signal intensity of the calf lesion on the sagittal T2-weighted MR image (g) and the iso- to hypointense signal of the lesion on the nonenhanced T1-weighted MR image (h). (a, b) Photographs show clinical signs of CLOVES syndrome: epidermal nevi (a) and congenital lipomatous overgrowth of the trunk (b). (e) Delayed venous phase MR angiogram shows hypervascularity. An asymmetric enlarged hypervascular limb (Fig 8b) with underlying osseous hypertrophy is often seen in both syndromes; however, PWS may involve ulceration, given the associated high-flow AVMs (36,72). Additional key extravascular signs associated with CLOVES syndrome include linear epidermal nevi, lipomas, and hamartomas; thoracic lipomatous hyperplasia; hand and/or foot overgrowth and macrodactyly; sandal-gap toes; spinal abnormalities (a key feature for differentiation from KTS) including scoliosis, spina bifida, and chest wall pectus deformities; and in some cases, nephroblastoma (Wilm tumor) (22,29,36,55,56). (k, l) Digital subtraction angiograms of the lower extremity in the girl show the vascular malformation associated with FAVA in the gastrocnemius and soleus muscles and Achilles tendon (k) and show the lesion after alcohol embolization and sclerotherapy (l). US and MRI are preferred over CT angiography because they do not involve the use of ionizing radiation, but the use of CT angiography to assess runoff in the extremities has been previously described (1). (k, l) Digital subtraction angiograms of the lower extremity in the girl show the vascular malformation associated with FAVA in the gastrocnemius and soleus muscles and Achilles tendon (k) and show the lesion after alcohol embolization and sclerotherapy (l). US is often the initial imaging modality of choice for assessment of “lumps and bumps” in pediatric patients, as it is readily available and easily tolerated by those who typically require sedation for MRI. After periods of rapid growth, the cysts can undergo hemorrhaging that leads to the appearance of fluid-fluid levels. (g–i) Right lower extremity lateral marginal vein of Servelle venograms obtained with pedal venous access 2 months later show successful coil (arrows in i) and sodium tetradecyl sulfate foam embolization of the right lateral marginal vein of Servelle, with patency of the deep femoral venous system. MRI and MR angiography (Fig 10h), or CT angiography can help to identify the low-flow malformations and achieve greater soft-tissue resolution when evaluating vasculature and overgrowth, respectively. AVMs associated with RASA1 mutations have a high recurrence rate and are treated only when the patient becomes symptomatic. Sirolimus therapy may be beneficial in restricting and/or preventing vascular anomaly growth and is an appropriate first step in medical management for these patients (67). (i, j) Venous phase (i) and arterial phase (j) MR angiograms obtained in the girl show a high-flow component in the lesion, suggesting an atypical high-flow variant of FAVA. (f) Sagittal gadobutrol-enhanced T1-weighted MR image obtained in the girl shows avid enhancement of the calf lesion, in line with the muscle fascicles. PTEN mutations can manifest as a mixed bag of vascular anomalies, which may be high- or low-flow disorders or true AVMs (69). (i, j) Venous phase (i) and arterial phase (j) MR angiograms obtained in the girl show a high-flow component in the lesion, suggesting an atypical high-flow variant of FAVA. KTS in a 19-month-old girl. The types of associated vascular anomalies (capillary, venous, and lymphatic) and the severity and phenotypic manifestations of these disorders vary. Thus, it is of interest to present these cases which were diagnosed from the suspicion caused by imaging findings. Because KTS and CLOVES syndrome share many phenotypic features, accurate physical examination and clinical photographic review are necessary for a true diagnosis of CLOVES syndrome. These findings are consistent with hamartomatous or lipomatous overgrowth with vascular ectasia and low-flow malformation. (g) Axial T2-weighted brain MR image shows periventricular cystic abnormalities and polymicrogyria, which are some of the diagnostic criteria for Proteus syndrome. Auto-brewery syndrome (ABS), also known as gut fermentation syndrome, is a rarely diagnosed medical condition in which the ingestion of carbohydrates results in endogenous alcohol production. (g, h) In the same girl, note the high signal intensity of the calf lesion on the sagittal T2-weighted MR image (g) and the iso- to hypointense signal of the lesion on the nonenhanced T1-weighted MR image (h). Contrast-enhanced MRI and/or MR angiography is a reference-standard examination for evaluating the underlying low-flow malformation and extent of disease (Fig 3b–3f). Similarly, MRI effectively depicts anatomic involvement of soft-tissue structures and bones and reveals important lesion-specific characteristics for classification (1–3). Figure 5f. and Interventional Radiology and Image Guided Medicine (F.B., C.M.H., A.E.G. Proteus syndrome is a congenital disorder of unknown etiology, and it is the prototype of overgrowth syndromes. Many of these syndromes have been linked to sporadic somatic mosaicism involving mutations of the phosphoinositide 3–kinase (PI3K)/protein kinase B (AKT)/mammalian target of rapamycin (mTOR) pathway, which has an important role in tissue growth and angiogenesis. (d) Posteroanterior radiograph obtained in the patient at age 3 years shows soft-tissue overgrowth of the trunk. The condition is considered an overgrowth syndrome, similar to, but separate from Proteus syndrome. However, there are minimal related data and much of the existing data remain preclinical. Documentation regarding a patient’s deep venous system is important for planning treatment of KTS, and arteriography is used to rule out high-flow malformations, as these may reflect PWS with a KTS phenotype.
2020 overgrowth syndrome radiology