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Tuberous sclerosis complex(TSC)is a rare genetic disease that can lead to benign dysplasia in multiple organs such as the skin, brain, eyes, oral cavity, heart, lungs, kidneys, liver, and bones. Its main symptoms include epilepsy, intellectual disabilities, skin depigmentation, and facial angiofibromas, whilst incidence is approximately 1 in 10 000 to 1 in 6000 newborns. This case presents a middle-aged woman who initially manifested with epilepsy and nodular depigmentation. Later, she developed a lower abdominal mass, elevated creatinine, and severe anemia. Based on clinical features and whole exome sequencing, the primary diagnosis was confirmed as TSC. Laboratory and imaging examinations revealed that the lower abdominal mass originated from the uterus. CT-guided biopsy pathology and surgical pathology suggested a combination of leiomyoma and abscess. With the involvement of multiple organs and various complications beyond the main diagnosis, the diagnostic and therapeutic process for this patient highlights the importance of rigorous clinical thinking and multidisciplinary collaboration in the diagnosis and treatment of rare and challenging diseases.
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Objective To explore the clinical and sonographic characteristics of pancreatic acinar cell carcinoma (PACC).Methods The clinical data and abdominal sonographic findings of 13 cases of PACC identified with pathology were reviewed,including contrast-enhanced ultrasound (CEUS) images.There were 9 males and 4 females with the average of 53.9 years old.Symptoms included upper abdominal pain,nausea,chest distress and weight loss.Results The serum level of tumor maker was elevated in only 5 cases.Eight masses (61.5％) were located in the pancreatic body-tail,4 (30.8％) in the head,the whole pancreas was involved in 1 case.The mean maximal diameter was 8.0 cm.Four lesions (30.8％) presented as solid-cystic mass.Well-defined border was showed in 6 cases (60.0％).Exophytic type was observed in 5 cases (38.5％).Pancreatic ductal dilation was seen in 3 cases (23.1％),in which 2 cases showed obstruction of common biliary duct.Liver metastasis was assessed in 4 patients (30.8％),and lymph node metastasis in 3 cases (23.1％).Vessels were invaded in 4 cases (30.8％).In 2 cases by CEUS,one showed arterial iso-enhancement,the other with strong enhancement.Conclusion Certain characteristic clinical and ultrasonographic features could be revealed in PACC,as a sizable,exophytic,solid-cystic and relatively hypervascular mass with well-definded border.
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Objective To investigate the clinical and sonographic features of automimune pancreatitis (AIP). Methods We analyzed the clinical and sonographic features of 28 patients who were diagnosed as AIP in Peking Union Medical College Hospital from January 2013 to December 2014. Results Clinical features: the initial manifestation was obstructive jaundice in 19 cases. Fourteen cases were accompanied with type 2 diabetes. Eight cases were accompanied with IgG4-related diseases in other organs. Twenty-five cases had elevated IgG4 serum levels. Six cases had positive antinuclear antibodies. Eighteen cases had steroids therapy, 15 of whom had a good response to steroids, 3 of whom had a poor response. The ultrasonographic features were as follows:(1) Among 18 cases of diffuse type of AIP were as follows:16 cases had a diffused,“sausage-like”enlarged pancreas. Fifteen cases had diffusely decreased echogenicity, with fibrous hyperechoic spots. (2) Ten cases of local type of AIP were as follows:the pancreas had local enlarged segment or a“tumor”was formed, but the echogenicity of tumor was similar to the rest of the pancreas. Six cases had irregular shape. (3) Seven cases had ill-defined margin. Six cases had a little blood flow. Two cases had no blood flow. Seven cases had upstream dilation of the main pancreatic duct. Nineteen cases had dilation of the proximal section of the common bile duct. Twelve cases had dilation of the intrahepatic bile duct. Conclusions AIP have some sonographic features. Patients are often older, having abdominal pain, obstructive jaundice, and diffused or local enlargement of pancreas. Combining with the clinical data and laboratory examination may help the diagnosis of AIP.
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Objective To observe the ultrasonographic features of primary squamous cell carcinoma of the breast and its clinical and histopathological characteristics. Methods The ultrasonographic features, clinical and histopathological characteristics of 7 middle-aged women (median age 61 years old) with primary squamous cell carcinoma of the breast confirmed histopathologically from January 1995 to December 2014 in Peking Union Medical College Hospital were retrospectively reviewed. Results There were 8 lesions in seven cases. Six cases were single lesion and 1 case with multiple lesions, the diameters of the lesions were 7.0-60.0 mm [mean (34.0±19.6) mm]. On grayscale ultrasound, 6 lesions with solid compoments were hypoechoic, 2 lesions with solid and cystic compoments were complex echogenic, the lesions all had irregular shape and indistinct margin, 2 lesions had calcifications. On color Doppler flow imaging, 7 lesions had rich blood flow signals (Ⅱor Ⅲ) and 1 lesion had no blood flow signal. On gross histopathological examination, 6 masses were solid, pale-white colored, medium texture and the boundary was not clear. Two masses had cystic cavity. One old patient who was 70 years old had several times chest wall recurrence after mastectomy. On ultrasonography, the lesion showed an anechoic cyst with thick wall. Two chest wall recurrence lesions were cystic with thick wall. Microscopic examination showed squamous cell carcinoma infiltrating into the fiber adipose and skeletal muscle tissue. Conclusions Primary squamous cell carcinoma of the breast is more common in large tumor size. Ultrasound can show the more cysticcomponents of the tumor and abundant vascularity, which is helpful for diagnosis.
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Objective To measure total hemoglobin concentration (THC) of breast lesion using US-guided diffused optical tomography(DOT) and to investigate the THC optimal threshold value in different size breast lesions.Methods DOT was performed on 500 breast lesions and surgical pathology was as the gold standard.The optimal diagnostic threshold and the efficacy were figured out.Results There were 265 benign and 235 malignant lesions.In malignant lesions,THC of ≥2 cm lesion group was higher than that of ＜2 cm lesion group(P =0.000).In benign lesions,there was no statistical difference between ≥2 cm group and ＜2 cm group (P =0.13).As for ＜2 cm breast lesions,when a THC threshold value of 146.9 μmol/L and 102.2 μmol/L were used,the sensitivity,specificity,positive predictive value,negative predictive value and accuracy were 74.2％,70.0％,71.7％,62.9％,79.9％ and 86.7％,44.4％,61.6％,51.6％,83％,respectively.As for ≥2 cm breast lesions,when a THC threshold value of 210.4 μmol/L were used,the sensitivity,specificity,positive predictive value,negative predictive value and accuracy were 74.0％,86.7％,79.1％,89.2％,69.2％.Conclusions THC of breast cancer increased with the increasing size of lesions.The different diagnostic threshold value should be used according to different size lesions so as to enhance sensitivity,specificity and accuracy.
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Objective To investigate the ultrasonographic manifestation of renal oncocytoma. Methods The sonographic appearances of 12 patients with pathologically confirmed RO were retrospectively reviewed, and the size, margin, configuration, echogenicity and blood flow distribution of the lesions were analyzed. Results All of the 12 RO were detected and located correctly, among which 3 cases were misdiagnosed as renal cell carcinoma and 9 cases were not qualitatively diagnosed with ultrasound. The lesions manifested as central stellate scar in 8.33%, homogeneous enchogenicity in 66.67%, well-defined in 75.00%, regular-shape in 91.67% and isoechoic in 58.33%. Among these lesions, 6 (50.00%) were hypervascular with spoke-wheel distribution, 5 (41.67%) were hypovascular, and 1 (8.33%) was avascular, while peripheral blood flow were seen in 7 lesions (66.67%). Conclusion The diagnostic ability of ultrasound for RO is limited, but a homogeneous, well-defined solid lesion with spoke-wheel distribution of blood flow, especially with a stellate scar may suggest RO.
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Objective To investigate the role of gray-scale sonography in the diagnosis of thyroid microcarcinoma(TMC).Methods The sonographic characteristics of 58 TMC and 61 benign thyroid nodules(≤1 cm)were retrospectively reviewed and compared with each other.The size,echogenicity,internal solid/cystic component,configuration,anteroposterior to transverse dimension ratio(A/T),margin,halo sign and calcification type of the nodules were studied.Statistical analysis was performed using the chi-square test.The sensitivity,specificity,positive predictive value,negative predictive value and accuracy of individual sonographic characteristics were calculated respectively.Results In ultrasonography,TMC manifested as marked hypoechoic in 48.3%,solid lesion in 98.3%,irregular-shape in 74.1%,irregular halo sign in 37.0%,with internal microcalcifications in 62.1%.There were significantly statistical differences between the benign and malignant nodules in those findings (P＜0.001).However,there was no obviously statistical difference in the obscure margin.The sensitivity,specificity and accuracy were 86.2%,77.0% and 81.5% respectively when using marked internal hypoechoic echo,A/T≥1 and microcalcification as a new combined criterior.Conclusions The gray-scale sonographic findings between the small benign and malignant thyroid nodules(≤1 cm)are different.Combining these sonographic signs can significantly improve diagnostic value of TMC.