First Author: I.Sobral PORTUGAL
Co Author(s): M. Cachulo J. Figueira I. Pires P. Melo R. Silva 0 0 0 0 0 0 0 0 0
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To report a case of sialidosis in a Portuguese man, with a brother with the same disease.
Department of Ophthalmology, Centro Hospitalar e Universitário de Coimbra (CHUC), Portugal.
Clinical evaluation, diagnosis and progression of sialidosis in a male patient.
Sialidosis is a rare lysosomal storage disease by deficit of alpha-N-acetyl neuraminidase, with clinical expression in various organs. It is an autosomal recessive disease classified into two phenotypes, type I and II, with different age at diagnosis and different clinical presentation, progression and prognosis. We report a case of a Portuguese man with sialidosis type I, whose diagnosis was confirmed by enzymological and molecular study. Symptoms began at age 26 with reduced visual acuity, bilateral cherry red spot and later myoclonus. This patient had a brother, now deceased, with the same confirmed disease. We herein describe the symptomatology and the clinical study of our patient, as well as address the pathophysiology, classification, symptomatology, diagnosis, differential diagnosis and respective treatment.
With this clinical report, we highlight the importance of a clinical history integrating all the patient´s symptoms, in order to achieve a correct diagnosis. In the presence of cherry red spot and some possible differential diagnosis, an extended complete complementary study is mandatory. Despite sialidosis being a rare disease, we can always find it with clinical, biochemical and genetic approach, so we must keep it in mind.