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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Tuberous sclerosis complex (TSC) is a genetic and systemic disorder characterized by benign hamartomatous tumors that involve multiple organ systems. The classical clinical triad of TSC consists of seizure, adenoma sebaceum (facial angiofibromata) and mental retardation. Renal angiomyolipomas are documented in approximately 40 - 80% of tuberous sclerosis patients and usually are small and asymptomatic. Less frequently nodules are large and lead to retroperitoneal hemorrhage. In these cases diagnosis can be difficult but definitive only after the histological examination or the systemic investigation of other possible tissue involvements. We describe the case of a 28 year old woman who came to the emergency department with acute postprandial abdominal pain and severe anemia due to hemorrhagic renal angiomyolipoma treated by nephrectomy in whom the following examination led to the diagnosis of TSC.
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PMID:Spontaneous retroperitoneal hemorrhage due to massive rupture of renal angiomyolipoma treated with nephrectomy: an unusual onset of tuberous sclerosis complex. 1935 78

A 49-year-old woman with tuberous sclerosis visited our hospital complaining of left abdominal pain. She had been diagnosed with bilateral renal angiomyolipoma (AML) when she was 32 years old and had been on maintenance hemodialysis since the age of 44. Magnetic resonance imaging showed bilateral giant renal AML and hemorrhage in the AML of the left kidney. Transthoracolumbar left nephrectomy was performed in March 2008. The resected specimen weighed 3.2 kg. The histological diagnosis was consistent with AML. In addition, the Japanese literature on giant renal AML was reviewed and discussed.
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PMID:[Bilateral giant renal angiomyolipoma following hemodialysis in a patient with tuberous sclerosis]. 1958 66

A perivascular epithelioid tumor (PEComa) is a rare tumor probably arising from the perivascular epithelioid cells. Only three cases of pancreatic PEComa have been reported in the English-language literature. The present report describes an extremely rare case of pancreatic PEComa. A 47-year-old Japanese woman complained of lower abdominal pain and a well-demarcated solid tumor was found in the pancreatic head. There was no history of tuberous sclerosis complexes. Pylorus-preserving pancreaticoduodenectomy was thus performed. There was a well-demarcated, solid tumor measuring 17 mm in the pancreatic head. The tumor was composed of a diffuse proliferation of epithelioid tumor cells with many blood vessels but no adipose tissue. The tumor cells expressed HMB45 and alpha-smooth muscle actin. Ultrastructurally, the tumor cells possessed many membrane-bound granules that were positive for HMB45 on immunoelectron microscopy. The results of immunoelectron microscopy show that some PEComas possess not only typical melanosomes or premelanosomes but also aberrant melanosomes.
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PMID:Perivascular epithelioid cell tumor (PEComa) of the pancreas: immunoelectron microscopy and review of the literature. 1971 33

Vascular involvement in tuberous sclerosis (TS) is rare. Central and peripheral aneurysms and large and medium size arterial stenotic-occlusive disease have been reported in patients with TS. We present here three pediatric patients with TS and severe vascular abnormalities, followed by a review of the literature. The three cases include a 14-month-old girl with polycystic kidneys and cerebral tubers who had a large asymptomatic abdominal aortic aneurysm, a 2-year-old boy with multiple features of TS who had hypertension and was found to have mid-aortic syndrome with bilateral renal artery stenosis, and an 18-year-old girl with abdominal pain and TS features who had greater than 70% celiac artery stenosis. In all cases, noninvasive vascular imaging modalities were utilized for either initial diagnosis, surveillance, or both. These cases highlight the collaborative roles of the pediatric nephrologist and cardiovascular imager in the diagnosis and management of the vascular complications in TS patients. Appropriate care can only be made through a high index of suspicion.
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PMID:Vascular involvement in tuberous sclerosis. 2022 88

Hypertension in children is not as frequent as adults. In addition, most of the times, we encounter secondary hypertension rather than essential hypertension in children. This demands careful history taking, physical examination, and laboratory and imaging investigations to find the underlying cause. Here, a boy with tuberous sclerosis is reported who presented with hypertension and abdominal pain associated with bilateral renal cystic disease.
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PMID:Tuberous sclerosis with hypertension and abdominal pain in a child. 2062 17

Tuberous sclerosis complex is a genetic multisystem disorder characterised by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver. Hepatic multiple, bilateral angiomyolipomas are a rare and usually asymptomatic complication in patients with tuberous sclerosis. We report here the case of a patient who needed liver transplantation because of debilitating manifestations and mechanical complications of massive liver involvement by multiple angiomyolipomas (severe malnutrition, anorexia and abdominal pain). Seventeen tumors, from 2 to 16 cm in diameter, were identified at examination of the liver explant. No feature suggestive of malignant behaviour was identified at histological examination. In conclusion, this unusual indication of liver transplantation underlines the interest of this therapeutic approach for benign tumors for which the multiplicity of the lesions and their huge volume prevent any attempt at surgical resection.
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PMID:Liver transplantation for multiple angiomyolipomas complicating tuberous sclerosis complex. 2067 2

A 17-year-old woman, who complained of left abdominal pain, was diagnosed as left renal bleeding by ultrasonography at emergency room in Shimane University Hospital. Further ultrasonography revealed numberless round-shaped hyperechoic liver nodules (maximum 16 mm in a diameter) and dissemination of the same type of nodules in both kidneys, which was characterized as angiomyolipomas. The lesions were also detected by abdominal CT and MRI. In addition, the findings of tuberous calcification of the cerebral ventricles and parenchyma, facial angiofibromas and shagreen patches led to the diagnosis of tuberous sclerosis complex. Since two years later, she had recurrent attacks of spontaneous pneumothorax. The histopathological examination found out lymphangioleiomyomatosis from the biopsied lung tissues. Although she became pregnant, she selected a therapeutic abortion due to the high risk for renal failure which would be induced by pressure of the grown uterine. Abdominal ultrasonography was very useful for diagnosis in this case.
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PMID:[Case of tuberous sclerosis complex with pulmonary lymphangioleiomyomatosis and angiomyolipomas of the liver and kidney]. 2181 79

We discuss an 18-year-old girl, diagnosed with tuberous sclerosis complex and known to have renal angiomyolipomas (AMLs) but having no regular urological follow-up, who presented with left-sided abdominal pain and haematuria on urine dipstick testing at the out-of-hours General Practitioner (GP) service. She was diagnosed as having urinary tract infection/pyelonephritis and discharged with simple analgesia and antibiotics. Subsequent imaging of her renal tract demonstrated multiple large AMLs with evidence of recent bleeding, which required arterial embolisation.
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PMID:Renal angiomyolipomas in tuberous sclerosis--rare but potentially life-threatening lesions. 2324 96

Tuberous sclerosis complex (TSC) is a genetic neurocutaneous disorder characterised by seizures, mental retardation and hamartoma formation in multiple organs, mainly in the brain, skin, kidney, liver, lung and heart. Renal manifestations occur in about 60-80% of all patients with TSC and their rate increases with age. We report the case of a 17-year-old boy with tuberous sclerosis who presented with abdominal pain associated with kidney failure. Investigation revealed bilateral renal lesions, suggesting angiomyolipomas. On further work-up, malignancy was suspected and the patient underwent bilateral partial nephrectomy with histological diagnosis of bilateral renal cell carcinoma. This is a rare complication of TSC, particularly in a paediatric setting. Adequate surveillance of kidney disorders in patients with TSC is warranted, to guarantee an early diagnosis and treatment.
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PMID:Bilateral renal cell carcinoma in a paediatric patient with tuberous sclerosis complex. 2385 20

Tuberous sclerosis complex (TSC) is a rare inherited disease that affects many organs and tissues, which explains the diversity of its clinical manifestations. This disease is often diagnosed at an early age when cutaneous angiofibromas, epilepsy and mental retardation are associated. The hepatic involvement in this phakomatosis is an uncommon location. In this context, we report the case of a tuberous sclerosis revealed in adulthood by abdominal pain and distension related to renal and hepatic angiomyolipomas associated with typical skin lesions.
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PMID:Liver involvement in tuberous sclerosis. 2467 14


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