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CASE REPORT
Year : 2017  |  Volume : 6  |  Issue : 3  |  Page : 174-178

A rare case : Sjogren-larsson syndrome


1 Associate Professor, Jawaharlal Nehru Medical College(JNMC), Sawangi(MEGHE), Wardha, India
2 Professor and HOD, Jawaharlal Nehru Medical College(JNMC), Sawangi(MEGHE), Wardha, India
3 Junior Resident, Jawaharlal Nehru Medical College(JNMC), Sawangi(MEGHE), Wardha, India
4 Assistant Professor, Jawaharlal Nehru Medical College(JNMC), Sawangi(MEGHE), Wardha, India

Correspondence Address:
Jayant Vagha
Professor & HOD, Department of Pediatrics, JNMC, Sawangi (M), Wardha
India
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Source of Support: None, Conflict of Interest: None


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A 2.5 year boy was brought with spastic diplegia, delayed attainment of motor developmental milestones and congenital ichthyosis. He had borderline intelligence. Magnetic resonance imaging showed bilateral hyperintensities on T2WI and FLAIR sequences with MR spectroscopy showing a characteristic lipid peak at 1.3ppm. clinical and MR findings resemble those of Sjogren-larsson syndrome.


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