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Case 119

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A two-year-old male infant, born in Parauapebas (PA, Brazil), has presented with white pupillary reflex in the left eye on flash photography since his first months of age. He has also developed progressive loss of vision, headache and involvement of the ocular globe internal architecture, as shown by the and computed tomography herein provided.

Based on the images and clinical history, which is the most likely diagnosis?

a) Congenital cataract

25%

b) Periorbital cellulitis

25%

c) Congenital glaucoma

25%

d) Extraocular retinoblastoma

25%
   

Comments

- The retinoblastoma is the most common malignant tumor of the eye in children and occurs in about 1:20000 live births. 80% of the cases are diagnosed before 3 or 4 years of age.

- Clinical manifestations depend on the size and location of the tumor. The most frequent ones are leukocoria (79% of the cases) and strabismus (10.7% of the patients)

- The parents and pediatricians play a major role in the early detection of ocular abnormalities and, if necessary, children should be referred to an ophthalmologist for fundoscopic examination.

- Treatment is aimed at preservation of the patient’s life and maintenance of his vision. Clinical outcome depends on the stage of the disease: the sooner the disorder is diagnosed, the better the prognosis.

- The red-reflex examination is used in Brazil as a pediatric screening test for potential eye diseases such as retinoblastoma, congenital cataract and congenital glaucoma.

References

1. Rodrigues KES, Latorre MRDO, Camargo B. Atraso no diagnóstico do retinoblastoma. Jor Ped. 2004; 80(6): 511-516.

2. Antoneli CBG, Steinhorst F, Ribeiro KCB, Chojniak MMM, Novaes PERS, Arias V, Bianchi A. O papel do pediatra no diagnóstico precoce do retinoblastoma. Rev Assoc Med Bras. 2004; 50(4):400-402.

3. PET-MEDICINA/UFC, CAVIV. Teste do Olhinho. Fortaleza: Universidade Federal do Ceará, 2007. [Acessed on May, 2013]. Available at: www.testedoolhinho.ufc.br

4. Kaufman PL, Paysse EA. Overview of retinoblastoma. Pappo AS, editor. Waltham (MA): UpToDate, 2013. [Acessed on June, 2013]. Available at: http://www.uptodate.com/contents/overview-of-retinoblastoma

Authors

Marina Bernardes Leão, 5th year medical student of UFMG School of Medicine.
E-mail: marinableao[at]hotmail.com

Felipe Augusto de Oliveira Morais, 5th year medical student of UFMG School of Medicine.
E-mail: morais.felipeao[at]gmail.com

Supervisors

Dr. Nonato Mendonça Lott Monteiro, Pediatric oncologist at Hospital das Clínicas da UFMG.

E-mail: nonatomlm[at]yahoo.com.br

Dr. Karla Emília de Sá Rodrigues, Member of the Department of Pediatrics (UFMG School of Medicine) and pediatric oncologist at Hospital das Clínicas da UFMG.

E-mail: karlaemilia[at]ufmg.br

Dr. Fernanda Rodrigues Tibúrcio, Pediatric oncologist at Hospital das Clínicas da UFMG.

E-mail: fernandatiburcio[at]yahoo.com.br

Reviewers

Camila Andrade and Fabiana Resende

Translated by

Lucas Resende Lucinda, 6th year medical student of UFMG School of Medicine.
E-mail: lucasresendebh[at]hotmail.com

Commentics

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