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Case Report

Ann Med Res. 1995; 2(2): 201-203


Juvenile cerebroretinal degeneration and differential diagnosis : report of a case

Dr.Münife MÜFTÜOĞLU*,  Dr.Ayşen COŞKUN**,  Dr.İbrahim Feyzi HEPŞEN***, Dr.Tülay TECÎMER***,  Dr.M.Ali BEREKETOĞLU*

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Abstract


 


Juvenile cerebroretinal degeneration is a rare form of the lipidoses, which presents with variable clinical features. The predominant symptom of the disease is visual impairment and it should be kept in mind in the differential diagnosis of congenital diseases of progressive blindness.

In the present study, an 11-year-old boy, who had a diagnosis of Stargardt disease for progressive visual impairment at the age of seven but further follow-up examinations showed a progressive mental deterioration with multiple types of seizures, was reported and differential diagnoses were discussed in the light of the literature. [Journal of Turgut Ozal Medical Center 2(2):201-203,1995]

Key Words : Juvenile cerebroretinal degeneration, Stargardt disease, retinal degeneration







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