A 20-Year-Old Woman With Nail Abnormalities and Vomiting

Sumaira Nabi, MBBS; Shahzad Ahmed, MBBS; Mazhar Badshah, MBBS


June 06, 2019

Physical Examination and Workup

Upon clinical examination, the patient is an alert young woman oriented to time, place, and person. Her vital signs include an oral temperature of 98.6°F (37°C), a regular pulse of 76 beats/min, and a blood pressure of 110/70 mm Hg. Her respiratory rate is 16 breaths/minute. Her Glasgow Coma Score is 15/15, and her higher mental functions are intact.

Upon neurologic examination, her cranial nerves are intact and symmetrical. She has no signs of meningeal irritation, pyramidal weakness, or incoordination. Her abdomen is soft, with flank fullness. She has bimanually palpable, nontender, cystic to firm masses extending from the hypochondrium to the lumber region on both sides. Her bowel sounds are audible. Precordial examination reveals normal heart sounds. Auscultation of the lung fields shows normal vesicular breathing.

Laboratory analysis includes a complete blood cell count that reveals anemia, with a hemoglobin level of 10 mg/dL. The remainder of the patient's cell counts and erythrocyte sedimentation rate are within the reference range. Her liver function test results, renal function test results, serum glucose levels, ECG findings, echocardiography findings, and chest radiography findings are unremarkable. Urine examination reveals albuminuria and microscopic hematuria.

Contrast-enhanced CT of the abdomen reveals kidneys replaced by heterogeneously enhancing large, well-defined lobulated mass lesions, with variable proportions of soft tissue and fat density areas as well as angioid tissues consistent with bilateral renal angiomyolipomas (Figures 5 and 6). The right side lesion measures 11 cm x 10 cm; the left side lesion measures 7 cm x 5 cm. The remainder of the viscera are normal.

Figure 5.

Figure 6.

Intravenous urography reveals an almost nonfunctioning right kidney and a left kidney with near-normal function. Non–contrast-enhanced CT of the brain reveals subependymal calcified nodules in the distribution of bilateral lateral ventricles (Figure 7).

Figure 7.


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