Deafness Dystonia Optic Neuronopathy Syndrome – A Case Report
نویسندگان
چکیده
Deafness dystonia optic neuronopathy (DDON) syndrome is an extremely rare X linked single gene disorder characterized by prelingual or post lingual sensorinural hearing loss since childhood (SNHL),optic neuropathy, progressive dystonia, and behavioral problems. Herein we report a case of 20 year old Indian male who presented with complaints of increased hearing since he was 9 years old and visual difficulty which had started recently approximately at 19 years of age with associated behavioral problems. Investigations revealed bilateral profound hearing loss with optic atrophy. The case showed the typical features of DDON syndrome. Symptomatic management was planned. The case was further referred for genetic testing and was counseled regarding possible prognosis and management. The patient is kept on follow up for assessment. This rare case indicate the need to keep DDON Syndrome in mind while investigating ever simple case of SNHL at early childhood associated with any kind of visual problems.
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