Título / Title

WOLFRAM SYNDROME AND ITS FOLLOW-UP AFTER DIAGNOSIS

Introdução / Purpose

To report the case of a patient with Wolfram syndrome. This case also illustrates that, although there is no specific treatment, it is possible to provide a better quality of life to the patient, especially in relation to low visual and hearing acuity.

Material e Método / Methods

Data collection from medical records and test results.

Resultados / Results

M.C.S.S, female, 6 years old, with a complaint of low visual acuity for about 8 months in both eyes, in addition to polydipsia, polyphagia and polyuria. Pregnancy without complications and red reflex test at birth without changes. Visual acuity with OD correction: 20/80 and 20/60. Biomicroscopy without alterations. FO showed 3+/4+ papilla pallor in both eyes. The hypothesis of Wolfram Syndrome was raised. Macula OCT demonstrated loss of nerve fiber layer and Visual Evoked Potential with loss of conduction in both eyes (increased latency). Orbital MRI demonstrated reduction of optic nerves in orbital segments. Currently, aged 9 years old, she has 20/200 vision in RE and CD 1m in LE, in addition to reduced hearing acuity. She performs her daily activities with the help of a prismatic magnifying glass. She continues in multiprofessional therapeutic follow-up.

Discussão e Conclusões / Conclusion

Wolfram syndrome is a rare genetic syndrome, originating from autosomal recessive inheritance, which has clinical manifestations grouped in the mnemonic DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness).WSF1 gene mutation can be diagnosed using genetic testing, which is often not easily found in practice. Therefore, in view of the manifestations, the clinical diagnosis must be instituted and multidisciplinary follow-up should be initiated in an attempt to provide a better quality of life in coping with the disease.Psychiatric disorders (mainly depression) of the central nervous system (ataxia and seizures) and genitourinary tract infections are late manifestations, between the third and fourth decade of life. Life expectancy is reduced mainly because of the microvascular complications.

Palavras Chave

Wolfram Syndrome

Area

CLINICAL RETINA