The Diagnosis of Wolfram Syndrome

1813 WordsJul 11, 20188 Pages
Report of case: A ten years old boy was referred by Pediatrician for ocular assessment. He was a known case of DM since last two years being on insulin and the pediatrician was concerned about Diabetic Retinopathy, as the patient had a complaint of gradual visual decline over past two years. The patient was born to a 1st degree consanguineous cousin marriage, with a normal birth history. He had been diagnosed with DM at the age of eight, receiving insulin. The referral letter from pediatrician along with a recent HBA1C report was a telltale of good glycemic control. Moreover, the document reported an unremarkable systemic exam (afebrile patient with normal CVS, intact CNS, clear chest and soft abdomen) His general health was good. He…show more content…
Fellow eye is affected weeks or months after the involvement of the first eye. In acute stages, disc hyperemia and telangiectatic microangiopathy are evident. In chronic cases, severe optic atrophy supervenes. However, it is associated with brisk pupillary light reflexes.(12) In contrast, this patient had poor pupillary light reflexes atypical of LHON. In addition, DM was atypical of LHON. Thirdly, visual deterioration in this patient was bilateral, gradual and slowly progressive. Autosomal Dominant Optic Atrophy: It is characterized by bilateral optic atrophy with insidious visual loss in 1st to 2nd decade. As the name suggests, it is inherited in Autosomal dominant pattern. Systemic abnormalities are usually absent; however, associations with sensorineural hearing loss are documented. Presence of DM, lack of involvement of family members and negative family history of blindness in my patient were contrary to a diagnosis of ADOA.(13) Behr syndrome: AR inheritance, associated with visual loss in first decade due to diffuse optic atrophy. Other features include Nystagmus, skeletal abnormalities (limb contractures, Achilles tendon contractures), spastic gait, ataxia and mental handicap. All features suggestive of BEHR syndrome other than optic atrophy were absent in this patient.(14) Wolfram Syndrome: WS is characterized by constellation of features including juvenile onset type 1 non-immune mediated Diabetes Mellitus, Optic Atrophy,

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