Dr.EVA RANI TIRKEY
A 6yr old boy presented with impaired vision and focal seizures.He was in good health till march 2014. Visual acuity(BCVA) in right eye was 6/6 and in left eye was 6/36. Fundus examination of both eyes, audiometery ,motor,sensory system and gait was normal.MRI brain showed bilateral symmetrical demyelination in parieto-occipital region and accumulation of contrast material at the anterior edge of the lesion.ERG,VEP,EEG was abnormal.Serum cortisal was normal .Very long chain fatty acids(VLCFA) were found remarkably elevated.The diseases was progressive and culminated within 10 months in dementia,blindness,deafness,quadriplegia and death.
DISCUSSION-CCER is due to a deficiency of peroxisomes which is responsible for the catabolism of VLCFA accumulation.Its accumulation in tissue causes neurological and occular findings.
CONCLUSION-Early diagnosis avoids unnecessary invasive distressing,expensive tests and provide an opportunity for immediate genetic counselling.
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