SJOGREN LARSON SYNDROME - A CASE REPORT

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 .