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Case 232


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A male patient, 42 years old, is admitted to the Alfa Institute of the Hospital das Clínicas-UFMG of Gastroenterology because of a voluminous ascites frame, confusion and dyspnoea. Report of fibrosing chronic liver disease since the age of 18, whose two of his eight siblings share the diagnosis. Physical examination shows disorientation, significant weight loss, dysarthria, resting tremor in the hands, "flapping", the presence of collateral circulation in the abdomen and respiratory effort, with no other changes. In denying of other comorbidities. Negative serology for viral hepatitis.

Considering the clinical picture and the changes observed in the magnetic resonance imaging (MRI), the most likely diagnosis is:

a) Primary biliary cirrhosis


b) Wilson's disease


c) Hemochromatosis


d) Alpha 1-antitrypsin deficiency


Image analysis


Image 1: MRI of the abdomen, T2-weighted coronal section, indicating liver with reduced dimensions, lobulated and jagged edges (in green), featuring fibrosing chronic liver disease. Presence of splenomegaly and voluminous ascites.


Image 2: 3D SWAN brain MRI, axial section: red nucleus and pars reticulata of the substantia nigra of usual intensity, hyperintensity of the tegmentum and discreet hypointensity of superior colliculus, featuring the "giant panda" sign (yellow circle). Suggestive area of prior stroke in the left temporal region, observing products of intermingled hemoglobin degradation (in blue), translated by the hyposignal in this sequence of magnetic susceptibility.

Image 3: Brain MRI, GRE T2 sequence axial section, demonstrating the same findings at the Image 2.


Image 4: Brain MRI, T2-weighted FLAIR axial section, showing bilateral putaminal signal hyperintensity (yellow arrows). It is also observed an accentuation of the area between the gyrus sulcus, cracks and brain cisterns, suggesting brain volume reduction.


- Wilson’s Desease (WD) has an autosomal recessive character and is characterized by the change in copper transport;

- It is manifested mainly by liver, neurological and psychiatric disorders, with possible combination of symptoms;

- Most common manifestations: acute and chronic hepatitis, cirrhosis, dysarthria, tremor, dystonia, ataxia, depressed mood, changes in personality, irritability and presence of the Kayser-Fleischer ring;

- The diagnosis is usually presented between 5 and 35 years old;

- Patients with unexplained liver disease should have their levels of serum ceruroplasmina and urinary copper measured, also subjected to slip lamp exam and biomicroscopy;

- If left untreated, WD is fatal. The prognosis is excellent for patients who adhere to treatment.


- POUPON, R.; ANGULO, P.; TRAVIS, A. Clinical manifestations, diagnosis, and natural history of primary biliary cirrhosis.

  • - QUEIROZ-ANDRADE, M. et al:  MR Imaging Findings of Iron Overload. RadioGraphics, v. 29, n.6, out. 2009. Available in: Acessed in: 4 nov. 2015.

    - KNIPE, H. et al:  Wilson Disease: CNS manifestations. Available in: Acessed in: 4 nov. 2015.

  • - SCHILSKY, M. et al. Clinical manifestations, diagnosis, and natural history of Wilson disease. UpToDate 2015. [Acessed in november of 2015].

    • - CAMELIER, A. et al.Deficiência de alfa-1-atitripsina: diagnóstico e tratamento. Jornal Brasileiro de Pneumologia, v. 34, n. 7, jul. 2008. Available in: Acessed in 5 nov. 2015.

  • Authors

Fernando de Carvalho Bottega, 5th year medical student at Universidade de Minas Gerais School of Medicine

E-mail: f.cbottega[at]


Gabriela Estevam Agostini, 5th year medical student at Universidade de Minas Gerais School of Medicine

E-mail: gabiagostini[at]


Maria de Lourdes Ferrari - Professor of the Medical Clinic’s Department of the UFMG School of Medicine and Coordinator of the Ambulatory of Bowel Clinic of the Alfa Institute of Gastroenterology of the HC-UFMG

E-mail: lferrari[at]


André Volani Morganti – Radiologist Doctor at the HC-UFMG and the Hospital Felicio Rocho.


Fellype Borges, Daniele Araújo, Fabio M. Satake, Giovanna Vieira, Daniela Braga, André Guimarães, Cairo Mendes and professor Viviane Parisotto.

Translated by

Giovanna Vieira Moreira, 4th year medical student at Universidade Federal de Minas Gerais.

E-mail: giovieiramoreira[at]


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