SJOGREN LARSON SYNDROME - A CASE REPORT

Abstract

INTRODUCTION It is a Rare Autosomal            recessive Neurocutaneous disorder .It is a Inborn error of fatty alcohol oxidation due to Deficient activity FALDH leading to Accumulation of long chain fatty alcohols .No race and sex predilection. Consanguineous marriage seems to be the most

important factor Prevalence is 0.4 per 100000. Over 200 cases have been reported worldwide till Now CASE REPORT 9 years old Male child Referred from dermatology                  department, for defective vision .Ho generalised dryness and scaling of skin since 5 days of life. Spasticity of all limbs more in lower limbs since 6 months of age. Motor development delay and speech defects. Seizures since 1.5 years of age 8 episodes so far. Delayed developmental milestones. Ho  consanguinity in parent. Caesarean delivery - CPD in              labour .Height 100 cm. weight 11 kg CUTANEOUS                  EXAMINATION generalised icthyosis of skin most              predominant around the umbilicus and in flexural folds             seborrhoeic dermatitis of scalp .NEUROLOGICAL                 EXAMINATION Mental retardation, spasticity involving legs, spastic gait, brisk deep tendon reflexes , plantar extensor and . OCULAR EXAMINATION Child fixes light ,Anterior  segment ectropion both eye upper eyelids. On direct               ophthalmoscopic examination, both eyes glistening dots in the foveal and para foveal region. CONCLUSION this case as been presented for its rarity .