A 32-year-old woman comes to the physician complaining of severe left flank pain and gross hematuria. The pain started about 6 hours earlier and has steadily increased. It is not colicky in nature. There is no history of trauma, bleeding, or bruising. The patient has no weight loss, fever, chills, or dysuria. She considers herself in good health and works full-time as an editorial assistant. There is no family history of hematuria, kidney stones, or kidney disease. Her past medical history is unremarkable and she takes no medications.
On examination, the patient appears uncomfortable. Her vital signs are within normal limits. Some scattered small pits are noted in her teeth. Cardiac and pulmonary examinations are unremarkable. An ill-defined mass is felt in the left flank area on abdominal examination.
Laboratory results show a urinalysis with red bloods cells too numerous to count, normal complete blood count, and normal comprehensive metabolic panel.
An urgent ultrasound reveals a 10-cm echogenic mass in the left kidney. Smaller echogenic masses and 3 renal cysts are seen in the right kidney. Abdominal CT scan reveals a 10x13-cm mass in the left kidney with attenuation similar to perirenal fat.
Which of the following is the most likely diagnosis?

Question

A 32-year-old woman comes to the physician complaining of severe left flank pain and gross hematuria.  The pain started about 6 hours earlier and has steadily increased.  It is not colicky in nature.  There is no history of trauma, bleeding, or bruising.  The patient has no weight loss, fever, chills, or dysuria.  She considers herself in good health and works full-time as an editorial assistant.  There is no family history of hematuria, kidney stones, or kidney disease.  Her past medical history is unremarkable and she takes no medications.
On examination, the patient appears uncomfortable.  Her vital signs are within normal limits.  Some scattered small pits are noted in her teeth.  Cardiac and pulmonary examinations are unremarkable.  An ill-defined mass is felt in the left flank area on abdominal examination.
Laboratory results show a urinalysis with red bloods cells too numerous to count, normal complete blood count, and normal comprehensive metabolic panel.
An urgent ultrasound reveals a 10-cm echogenic mass in the left kidney.  Smaller echogenic masses and 3 renal cysts are seen in the right kidney.  Abdominal CT scan reveals a 10x13-cm mass in the left kidney with attenuation similar to perirenal fat.
Which of the following is the most likely diagnosis?

Quizplus · Accepted Answer

11ec193a_9905_6e05_853d_0d8388c7c5fb_MD0002_00 This patient's presentation is consistent with likely tuberous sclerosis complex, an autosomal dominant disorder due to mutations in 1 of 2 tumor suppressor genes. However, nearly 60% of cases involve no family history and are caused by new germline mutations. Tuberous sclerosis complex usually presents with hamartomatous tumors in many organs, including the brain, heart, lungs, kidney, and skin. Patients may present early in life with mental dysfunction, seizures, skin findings (eg, cutaneous angiomas), and dental pitting. However, recent studies have documented more adult-onset cases due to inability to recognize characteristic skin and dental findings in childhood or to later development of skin and dental pits. Adult-onset tuberous sclerosis complex may present with renal angiomyolipomas (as in this patient) or cystic lung disease, termed lymphangioleiomyomatosis (LAM), in later life. The renal lesions may cause pain, hemorrhage, hematuria, and loss of kidney function. The pulmonary lesions can cause dyspnea, pneumothorax, hemoptysis, and loss of lung function. Many adults have normal cognitive function. Management usually involves seizure control and surveillance for CNS, pulmonary, and renal manifestations as many of the hamartomatous tumor complications are treatable. (Choice A) This patient's echogenic renal mass with attenuation similar to perirenal fat strongly suggests angiomyolipoma in the kidneys. Bilateral renal cell cancer is uncommon, and renal angiomyolipomas rarely (< 2% of cases) become malignant. (Choice B) Neurofibromatosis typically does not involve the kidneys. (Choice C) Polycystic kidney disease is not usually associated with angiomyolipomas of the kidney. However, tuberous sclerosis complex is sometimes associated with renal cysts. (Choice E) von Hippel-Lindau disease is an autosomal dominant disorder presenting with hemangioblastomas of the central nervous system, retinal angiomas, pheochromocytoma, pancreatic lesions, renal cysts, and renal cell carcinoma. This patient's illness is not characteristic of von Hippel-Lindau disease. Educational objective: Tuberous sclerosis complex is being recognized more frequently in adults. Patients who present with > 1 renal angiomyolipoma or pulmonary lymphangioleiomyomatosis in women should undergo a thorough dermatologic examination and brain imaging to screen for tuberous sclerosis. Management usually involves seizure control and surveillance for CNS, pulmonary, and renal manifestations. __________ References: Recognition of tuberous sclerosis in adult women: Delayed presentation with life-threatening consequences. (http://www.ncbi.nlm.nih.gov/pubmed/21690595) Tuberous sclerosis complex-associated angiomyolipomas: focus on mTOR inhibition. (http://www.ncbi.nlm.nih.gov/pubmed/22130643)

A 32-Year-Old Woman Comes to the Physician Complaining of Severe