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Case 391


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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?

a) Cortical tubers


b) Cardiac rhabdomyomas


c) Angiofibromas


d) Supependymal nodules


Image analysis

Image 1: Photograph of the patient’s face showing the presence of angiofibromas distributed in the face (red circle) and hypochromic macules in both lips (blue arrows).

Image 2: Brain Computed Tomography (CT), without intravenous contrast, showing axial planes at the level of lateral ventricles bodies (a) and high frontoparietal convexity (b). It is observed subependymal calcified nodules in lateral ventricles (red), and hypodense lesion, cortico-subcortical in left frontal lobe, consistent with cortical tubers (blue).

Image 3: Brain CT, coronal reconstruction, demonstrating the alterations seen in Image 2.

Image 4: Chest radiograph in posteroanterior incidence (a) and in lateral view (b), both in orthostatism. Increased cardiothoracic ratio (red line) and approximation of the cardiac area with the sternum (blue line), suggestive of heart failure (HF). Also, pulmonary hilum is prominent (green) with signs of redistribution, what could be related to the pulmonary congestion due to HF. We suggest the reading of case 380 to verify HF imaging alterations in more advanced stages.


-       TSC is a neurocutaneos syndrome due to genetic mutation or genetic inheritance in a tumor suppressor gene;

-       Type 1 neurofibromatosis is the main differential diagnosis for TSC;

-       TSC involve the formation of hamartomas in various systems, specially neurocutaneos, cardiac and renal

-       The diagnosis is mostly clinical;

-       Propaedeutic is composed by brain CT/MRI, abdominal US/MRI, echocardiogram and electrocardiogram.

-       Therapy is recommended to prevent complications, especially neuropsychiatric, cutaneous, renal, cardiac and pulmonary.


  1. 1- Almeida C. Esclerose Tuberosa: características e diagnóstico [Internet]. Portal PEBMED; 2018 Sep 11 [cited 2020 Jun 13]. Available from:

    2- Maciel ACS, Cunali VCA. Esclerose tuberosa: relato de caso e revisão de literatura. Resid Pediatr. [Internet]. 2015 [cited 2020 Jun 13];5(2):1-2. DOI Available from:,prov%C3%A1vel%20e%20suspeito%20da%20doen%C3%A7a.

    3- Cangussu CB. Perfil de apresentação clínica dos tumores cardíacos em crianças e adolescentes. 2012.  [Monografia de Conclusão de Especialização on the Internet]. Website: Faculdade de Medicina da Universidade Federal de Minas Gerais; 2012 [cited 2020 Jun 13]. 76 p. Available from:

    4- Kohrman MH. Emerging Treatments in the Management of Tuberous Sclerosis Complex. Pediatric Neurology [Internet]. 2012 May [cited 2020 Jun 13];46:267-265. DOI Available from:

    5- Dufner-Almeida LG. Estudo Mutacional em Pacientes com o Complexo da Esclerose Tuberosa [Dissertação de Mestrado on the Internet]. São Paulo: Universidade de São Paulo; 2014 [cited 2020 Jun 14]. 70 p. Available from:

    6- Brasileiro A, Afonso P, Diamantino F, Paiva Lopes MJ. A Ponta do Iceberg: Manifestações Cutâneas de Patologia Pediátrica com Envolvimento Neurológico. Estudo Mutacional em Pacientes com o Complexo da Esclerose Tuberosa [Internet]. 2014 Sep 27 [cited 2020 Jun 14]:1-7. Available from:

    7- Portocarrero LK. Tuberous sclerosis complex: review based on new diagnostic criteria. Anais Brasileiros de Dermatologia [Internet]. 2018 May 05 [cited 2020 Jun];93:323-331. DOI Available from:

    8- Darrigo Júnior LG, et al. Neurofibromatose tipo 1 na infância: revisão dos aspectos clínicos. Revista Paulista de Pediatria [Internet]. 2018 Jun 06 [cited 2020 Jun 14];26:176-182. DOI Available from:

    9- Krueger DA, Northrup H, International Tuberous Sclerosis Complex Consensus Group. . Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatric Neurology [Internet]. 2013 Oct 10 [cited 2020 Jun 15];49:255-265. DOI Available from:!po=20.8333

    10- Northrup H. Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatric Neurology [Internet]. 2013 Oct 10 [cited 2020 Jun 17];49:243-254. DOI Available from:!po=15.0000


Almir Marquiore Júnior, 4th year medical student at Universidade Federal de Minas Gerais.

E-mail: a.marquiore[at]


Prof. Bruno Ramos, Cardiologist and Adjunct Professor of the Department of Internal Medicine at the Medical School of Universidade Federal de Minas Gerais

E-mail: ramosnas[at]


Prof. Júlio Guerra Domingues, Professor of the Department of Anatomy and Imaging at Medical School of Universidade Federal de Minas Gerais

E-mail: jgdjulio[at]

Translated by

Marcela Chagas Lima Mussi, 4th year medical student at Universidade Federal de Minas Gerais.

E-mail: marcela.mussi[at]


Luan Salvador, Marcela Mussi, Marco Fontana, Melina Araújo, Rafael Arantes.

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:

a) Neurofibromatosis


b) Tuberous sclerosis complex


c) Endocardial fibroelastosis


d) Velocardiofacial syndrome





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