Generalized lymphedema associated with neurologic signs (GLANS) syndrome: a new entity?

BACKGROUND: Primary lymphedema in children, especially generalized disease with facial involvement, is rare. OBJECTIVE: We sought to report 3 childhood cases of lymphedema with associated neurologic findings and to provide a pathophysiologic explanation for this association. METHODS: Clinical observations, electroencephalography, and neuroimaging studies were evaluated. Microcomparative genomic hybridization was performed in 1 case. RESULTS: The 3 children had primary lymphedema of all 4 limbs and the face. This was confirmed by lymphoscintigraphy, which showed hypoplasia of vessels and hypofixation of lymph nodes. They had nonspecific neurologic disorders and electroencephalography abnormalities, without intellectual deficit. Neuroimaging revealed normal findings. Microcomparative genomic hybridization in 1 patient revealed no cytogenetic anomaly. The outcome was fatal in 1 case with development of visceral lymphedema and coma. LIMITATIONS: Genetic studies were performed in only 1 case. CONCLUSION: These observations suggest that neurologic assessment and electroencephalography are indicated for patients with lymphedema of the limbs and face to identify this syndrome.

(123)I-BZA2 as a melanin-targeted radiotracer for the identification of melanoma metastases: results and perspectives of a multicenter phase III clinical trial.

UNLABELLED: Our group has developed a new radiopharmaceutical, (123)I - N-(2-diethylaminoethyl)-2-iodobenzamide ((123)I-BZA2), a benzamide derivative able to bind to melanin pigment in melanoma cells. In a prospective and multicentric phase III clinical study, the value of (18)F-FDG PET/CT and (123)I-BZA2 scintigraphy was compared for melanoma staging. METHODS: Patients with a past history of cutaneous or ocular melanoma were included from 8 hospitals. (18)F-FDG imaging was performed according to a standard PET protocol. Whole-body, static planar, and SPECT/CT (if available) images were acquired 4 h after injection of a 2 MBq/kg dose of (123)I-BZA2. (18)F-FDG and (123)I-BZA2 sensitivity and specificity for the diagnosis of melanoma metastasis were calculated and compared on both a lesion basis and a patient basis. True-positive and true-negative lesion status was determined after 6 mo of clinical follow-up or according to lesion biopsies (if available). Melanin content in biopsies was evaluated with the standard Fontana-Masson silver method and was correlated with (123)I-BZA2 uptake. Based on statistical analysis, the number of inclusions was estimated at 186. RESULTS: In all, 87 patients were enrolled from 2008 to 2010. Of these, 45 (52%) had metastases. A total of 338 imaging abnormalities were analyzed; 86 lesions were considered metastases, and 20 of 25 lesion biopsies found melanoma metastases. In a patient-based analysis, the sensitivity of (18)F-FDG for diagnosis of melanoma metastases was higher than that of (123)I-BZA2, at 87% and 39%, respectively (P < 0.05). For specificity, (18)F-FDG and (123)I-BZA2 were not statistically different, at 78% and 94%, respectively. In a lesion-based analysis, the sensitivity of (18)F-FDG was statistically higher than that of (123)I-BZA2 (80% vs. 23%, P < 0.05). The specificity of (18)F-FDG was lower than that of (123)I-BZA2 (54% vs. 86%, P < 0.05). According to biopsy analysis, only 9 of 20 metastatic lesions (45%) were pigmented with high melanin content. (123)I-BZA2 imaging was positive for 6 of 8 melanin-positive lesions, fairly positive for 3 of 10 melanin-negative lesions, and negative for 7 of 10 melanin-negative lesions. The sensitivity and specificity of (123)I-BZA2 for the diagnosis of melanin-positive lesions were 75% and 70%, respectively. Because of a low (123)I-BZA2 sensitivity, this clinical trial was prematurely closed after 87 patients had been included. CONCLUSION: This study confirms the value of (18)F-FDG PET/CT for melanoma staging and strengthens the high accuracy of (123)I-BZA2 for diagnosis of melanin-positive metastatic melanoma. Moreover, benzamide derivatives radiolabeled with therapeutic radionuclide may offer a new strategy for the treatment of metastatic melanoma patients harboring melanin-positive metastases.

Use of hybrid SPECT/CT for diagnosis of radiographic occult fractures of the wrist.

Wrist and hand traumas represent most traumatic lesions. Any delay in treatment involves complications compromising the functional prognosis. We report typical examples illustrating the incremental diagnosis value of hybrid SPECT/CT compared with planar scintigraphy with semiquantitative analysis in the diagnosis of radiographic occult fractures of the wrist. Hybrid imaging diagnoses much more of scaphoid lesions because bone disruptions cannot always be shown on CT, as well as carpal-associated lesions and differentiates chronic arthritis or ligament lesions. This noninvasive approach could lead to improved therapeutic strategies with a beneficial impact on prognosis.

Treatment of early-onset Gorham syndrome with 8-year follow-up.

A case of Gorham disease with several years of follow-up is reported. At birth he had a mass in the thigh which was had pathology demonstrating a lymphangioma. By age 3 years, he had lymphedema of the ipsilateral foot and discrepant leg lengths. Radiography revealed heterogenous dystrophy of the bones and osteolysis of the hallux. At age 6, a spontaneous fracture of the right tibia was treated with surgery. Histopathology of a bone sample demonstrated bone remodelling, fibrous tissue, and large vascular lacunas within bone tissue, bordered by cells expressing the lymphaticmarker D2-40. At 8 years old, lymphedema of the right inferior leg had increased, leg lengths still differed, but other clinical signs were absent.

[Lymphoscintigraphic exploration in the limbs lymphatic disease]. / Exploration lymphoscintigraphique dans la maladie lymphatique des membres.

Lymphoscintigraphy is based upon the physiological transport of small radioactive particles injected into interstitium toward lymphatic vessels and nodes. Lymphoscintigraphy directly investigates lymphatic system while other methods (ultrasounds, CT, MRI) investigate tissular consequences of lymphatic disease. The scintigraphic procedure has to be standardized in order to be reproducible. Lymphatic vessels, lymphatic nodes and interstitium are systematically analysed. Interpretation is visual and qualitative. Multiple abnormalities can be observed. However, none of them can consistently differentiate between primary and secondary lymphedema. Differential diagnosis is usually obtained by taking together clinical and lymphoscintigraphic data. By providing informations about lymphatic component and physiopathology of edema, lymphoscintigraphy contributes to the management of lymphedema. Hybrid imaging is a new imaging modality of edema. Recently used, it combines functional (scintigraphy) and anatomical (CT) data and seems to be able to provide further informations.

Lymphatic compression by sclerotic patches of morphea: an original mechanism of lymphedema in a child.

Lymphedema in children is mostly primary, due to lymphatic hypoplasia. Secondary lymphedema is caused by lymphatic injury or obstruction. We report the case of a child that developed a lymphedema of the left upper and lower extremities, with a simultaneous onset of ipsilateral hemicorporal morphea. We concluded that lymphatic obstruction was due to sclerosis from morphea. This is a unique, rarely reported mechanism of lymphedema. Lymphoscintigraphy revealed attenuated lymphatic flow in the left upper and lower limbs. Systemic corticosteroids were associated with slow improvement in the sclerotic patches. We simultaneously noticed an improvement in the lymphedema of limbs. Repeat lymphoscintigraphy revealed dramatically improved lymphatic function. This case suggests that at least in some cases lymphedema may be caused by morphea.

Gut emptying affects dietary fat contribution to postprandial lipemia following sequential meals in healthy subjects.

OBJECTIVE: The present study examined the kinetic of plasma triacylglycerol (TAG) and gut emptying after sequential ingestion of breakfast and lunch, and the contribution of dietary fat ingested at breakfast to subsequent TAG after lunch. METHODS: Nine subjects ingested a breakfast (0730 h) and a lunch (1200 h) containing 25 and 44 g of fat, respectively. [1-(13)C] palmitate was added in breakfast only. Plasma TAG and chylomicron-TAG (CM-TAG) concentrations and [1-(13)C] palmitate enrichment were sequentially measured. On a consecutive day, an identical breakfast labeled with (123)I-Lipiodol was ingested, followed by a lunch for three controls. (123)I-Lipiodol dynamics was followed in vivo by scintigraphic imaging focused on the stomach, small bowel, and thoracic duct arch. RESULTS: An early rise in plasma and CM-TAG was observed after lunch ingestion. After breakfast, [1-(13)C] palmitate enrichment was maximal 150 and 210 min in plasma TAG and CM-TAG, respectively, decreased thereafter, and increased rapidly (50 min for plasma TAG and 30 min for CM-TAG) after lunch ingestion. Scintigraphic imaging appeared to show that fat ingested at breakfast was retained in part within the gut at lunch time. For the three subjects who ingested a lunch, a decrease of activity in the stomach and small bowel and a tendency for increased activity in the thoracic arch were observed. CONCLUSION: Contribution of fat ingested at breakfast to lipemia after lunch is confirmed. Fat ingested at breakfast was partly retained within the gut and was mobilized after lunch ingestion, as assessed by acceleration of gut emptying and thoracic duct flow after lunch.

Evaluation of a solid bolus suitable for esophageal scintigraphy.

This study was designed to select a suitable solid bolus for esophageal scintigraphy. Optimally, a bolus should leave minimal residual buccal and pharyngeal activity after being swallowed. We compared the oropharyngeal behavior of three boluses, i.e., omelette, egg white, and paté of 1- and 3-ml volume. Thirty patients without dysfunction of the upper esophageal sphincter were recruited for the study. Scintigraphy interpretation was based on the results of condensed images and time activity curves. A total of 108 oropharyngeal transits were analyzed. First we determined the most appropriate volume (1 or 3 ml) of paté, omelette, and egg white (i.e., the volume with the least residual oropharyngeal activity). Buccal or pharyngeal bolus retention occurred significantly less frequently with 1 ml paté than 3 ml (p = 0.03) and also less frequently with 3 ml egg white than with 1 ml egg white (p = 0.03), and the mean buccal bolus retention index was lower using 3 ml omelette than 1 ml omelette (p = 0.03). Then we identified the most suitable of the three selected boluses. Both oral and pharyngeal residues were higher for paté (1 ml) than for omelette (p = 0.02 and 0.05), and pharyngeal residue was significantly lower for omelette (3 ml) than for egg white (3 ml) (p = 0.02). In conclusion, a 3-ml bolus of radiolabeled omelette seems to be the most suitable bolus for exploration of esophageal transit, and its use could enhance the potential of scintigraphy in the assessment of esophageal disorders.

Three-dimensional analysis of left ventricle regional wall motion by using gated blood pool tomography.

BACKGROUND: We have elaborated a new software called ACS designed for left ventricle 3-dimensional reconstruction and quantitative analysis of regional wall motion using gated blood-pool tomography (GBPS). This paper presents the principle and the validation of this software. METHODS AND RESULTS: Blood pool tomography was reconstructed by filtered back-projection. Voxels corresponding to ventricular volumes were extracted using 3-D thresholding and 3-D elliptic mask. The auriculoventricular plane was located by phase analysis. Then, the reconstruction of the 3-D volume was initiated. First, a pre-processing based on a bi-dimensional Fourier transform re-sampled the initial points representing the wall of the left ventricle. Left ventricular contraction could be visualized in three dimensions. The points corresponding to the wall of the left ventricle were reorganized in order to obtain a regular sampling that allowed connection to the points during the cardiac cycle. Elementary volumes were defined by three adjacent wall points and the centre of the whole volume. The variation of elementary volumes during the cardiac cycle was related to the wall motion. Elementary volumes were regrouped to create regions of equivalent volume. Finally, regional and global ejection fractions could be calculated in 17 different regions. The method has been validated using a mathematical deformable ellipsoidal model. It had also been tested in vivo on a set of 59 patients in comparison to equilibrium radionuclide angiography for left ventricular ejection fraction and to echocardiography for regional wall motion evaluation. CONCLUSIONS: ACS is a new software that allows reconstruction and visualization of the left ventricle in three dimensions, and it quantified 3-dimensional regional wall motion analysis.