Biography
Biography: Aishwarya Patil
Abstract
Sjogren Larson syndrome is an inborn lipid metabolism error inherited in autosomal recessive pattern presenting as congenital ichthyosis, spastic diplegia/tetraplegia, and mental retardation caused by deficiency of enzyme fatty aldehyde dehydrogenase[FALDH]due to mutations in ALDH3A2 gene.
A 2yrs old male child presented with complaints of dry scaly and thickened skin ,with delayed development. On detailed history child attained neck holding at 7 months and sitting without support at 1and ½ yr with tightness and stiffness in lower limbs and episodes of seizures. No history of itching ,consanguinity of marriage and preterm birth. Cutaneous examination revealed dirty velvety plaques involving bilateral axillae, neck, groin and abdomen and plate like scales adherent at centre and free margins involving bilateral legs with generalised dryness over whole body.Neurological examination revealed global developmental delay with mental and growth retardation with increased ton in both lover limbs.Sjogren–Larsson syndrome is a rare syndrome which classically presents as developmental delay, mental retardation, speech difficulties, seizures, spastic diplegia/tetraplegia, Glistening white dots on retina, and skin involvement in the form of pruritus with ichthyosis with generalized hyperkeratosis. The case of Sjogren-Larsson syndrome for its rareity and classical clinical findings.