The Diagnosis Of Wolfram Syndrome Essay

2524 words - 10 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 stepped into my office with a normal gait. The patient was well oriented to time and place.
His unaided and best-corrected visual acuities with a manifest refraction; +1.00DS/-0.25DC@180 OU, were 6/60 OU. He could not discern any of color vision plates on Ishihara color vision test. Confrontation visual fields to careful finger counting were constricted however, confrontation testing appeared to be unreliable as patient’s cooperation was poor during the entire exam. Extraocular motilities were full OU. Both pupils were equally round, however poorly responsive to light with no RAPD. Intraocular pressures measured 12mmHg OU.
Examination revealed bilateral Ocular adnexa and Anterior segments to within normal limits. Anterior chambers were quiet and deep OU. Dilated fundus examination revealed both vitreous clear OU. His both Optic Nerve heads were pale consistent with the clinical appearance of Optic Atrophy. Rest of fundus examination was unremarkable, including a well-defined Fovea, healthy maculae, Vasculature of Normal caliber, and normal peripheral fundus exam. No evidence of Diabetic Retinopathy (DR) was seen. The patient did not cooperate for a visual field analysis.
Work Up:
On the basis of history, presenting symptoms, clinical findings and suggestive features, an extensive work up was planned to rule out DI and any other systemic abnormality. Laboratory investigations, including Full Blood count (FBC), Lipid profile, Liver Function Tests (LFTs), Renal Function Tests (RFTs), Thyroid Function tests, Serum electrolytes, and serum and urine osmolalities were ordered. MRI brain was also requested from a Radiologist. Additionally, to rule out DI and deafness, I referred the patient to an Endocrinologist and an ENT specialist at another facility.
The patient returned 10 days after initial presentation with his reports from Endocrinologist, ENT specialist, LAB and Neuroimaging. His complete blood count revealed normal results. Results of lipid profile, LFTs, RFTs, TFTs, serum electrolytes, urine and serum osmolalities all were normal.
The letter from Endocrinologist indicated that, he after doing a 24 hour Urine collection and water deprivation test believed that patient did not have DI. However, complete...

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