scholarly journals An unusual case of tuberous sclerosis incidentally discovered in adulthood: case report and review of the literature

2018 ◽  
Vol 7 (12) ◽  
pp. 205846011880632
Author(s):  
Dolores Ferrara ◽  
Gianfranco Vallone ◽  
Enrico Tedeschi ◽  
Andrea Ponsiglione ◽  
Arnaldo Stanzione ◽  
...  

Tuberous sclerosis (TS) is a relatively rare multi-organ disorder generally diagnosed in infancy and described as a clinical triad of sebaceous adenoma, mental retardation, and seizures. Angiomyolipoma (AML) is the most common benign renal tumor usually found incidentally as a solitary small echogenic lesion on grayscale ultrasound. Less commonly, it is part of the TS complex and is seen as multiple lesions in both kidneys. We describe an unusual case of TS incidentally diagnosed in a 37-year-old female patient with several and bilateral renal AMLs and a single cortical–subcortical tuber in the right parieto-occipital cerebral lobe.

2000 ◽  
Vol 90 (9) ◽  
pp. 460-464 ◽  
Author(s):  
GJ Kelman ◽  
RC Aronoff

Ectrodactyly-ectodermal dysplasia-clefting syndrome is a rare congenital anomaly that affects tissues of mesodermal and ectodermal origin. Musculoskeletal involvement frequently requires orthopedic intervention. The authors present a review of the literature pertaining to this rare syndrome as well as a case report of a female patient who exhibited the complete clinical triad. A description of the surgical management of her condition is also presented.


2014 ◽  
Vol 8 (7-8) ◽  
pp. 545 ◽  
Author(s):  
Biao Dong ◽  
Yuantao Wang ◽  
Jianjian Zhang ◽  
Yaowen Fu ◽  
Gang Wang

Multilocular cystic nephroma is a relatively rare benign tumour of the kidney, which usually presents as a unilateral multicystic renal mass without solid elements. The lesions typically have a bimodal age, with peak incidence in male children under 24 months and another one in women over 40 old. We present an unusual case report of multilocular cystic nephroma in the right kidney in a 30-year-old male. Laparoscopic partial nephrectomy was performed. The pathologic examination confirmed a multilocular cystic nephroma in the right renal specimens. We present the image findings, pathological features, treatment alternatives and a review of the literature.


2015 ◽  
Vol 24 (2) ◽  
pp. 235-239 ◽  
Author(s):  
Jan Ulrych ◽  
Vladimir Fryba ◽  
Helena Skalova ◽  
Zdenek Krska ◽  
Tomas Krechler ◽  
...  

Heterotopic pancreas is a congenital pathology of the gastrointestinal tract, particularly rare in the esophagus. Both symptomatology and findings during preoperative examinations are non-specific and therefore do not often lead to an accurate diagnosis, which is usually revealed only by histopathological assessment of a resected specimen. We report an unusual case of a patient suffering from severe dysphagia caused by heterotopic pancreas in the distal esophagus with chronic inflammation and foci of premalignant changes. This article also reviews 14 adult cases of heterotopic pancreas in the esophagus previously reported in the literature, with the aim of determining the clinical features of this disease and possible complications including rare premalignant lesions and malignant transformation. Especially with regard to those complications, we suggest that both symptomatic and incidentally found asymptomatic lesions should be resected.


2014 ◽  
Vol 9 (2) ◽  
pp. 587-590 ◽  
Author(s):  
JIEMIN ZHAO ◽  
YAN TAN ◽  
YUGANG WU ◽  
WEI ZHAO ◽  
JUN WU ◽  
...  

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