Case 391

Medical history

Male patient, 21-years-old, reports fatigue, dizziness and dyspnea during usual activities. No comorbidities reported. Physical examination showed lower limb edema, a visible apex beat palpable with 3 digitals, grade II Levine proto systolic murmur, an elevate jugular venous pressure, tender hepatomegaly, and lesions as observed in Image 1. Further propaedeutic revealed ejection fraction of 35% and the radiologic findings as seen in Images 2 and 3. The diagnosis was tuberous sclerosis complex (TSC).

Considering the clinical history and images presented, which typical finding of this diagnosis was NOT seen in this case?

Test question

(SBP, 2008 - adapted) A nine-months-old patient, that presents epileptic seizures since the second month, is hospitalized with signs and symptoms of heart failure. Physical examination shows hypopigmented macules, leaf-like shaped, distributed in trunk and proximal parts of superior limbs. Echocardiogram shows the presence of an intracavitary nodule attached to the anterior wall of the left atrium.

The most likely diagnosis is:

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