We report a case of Sjogren-Larsson syndrome with clinical profile (spastic diplegia, icthyosis, mental retardation) and imaging findings on magnetic resonance imaging.

Background:Increase in the survival of preterm neonates has led to increased incidence of retinopathy of prematurity (ROP). Among various risk factors, only prematurity is well-established and role of others is still not clear. Effect of antenatal betamethasone on ROP severity is also controversial. Available literature from India has a paucity of information.Objectives:(a) The primary aim of the following study is to find the incidence and risk factors of ROP and (b) secondary aim is to assess the effect of antenatal betamethasone on ROP.Design:prospective, observational cohort study.Setting:Tertiary level neonatal care unit.Materials and Methods:A total of 148 infants ≤ 34 weeks gestation at birth, completed the study protocol. Severe ROP was defined as stage II and higher (including plus disease) of ROP. Various perinatal factors including antenatal betamethasone were analyzed by univariate followed by multivariate analysis.Results:overall incidence of ROP (any stage) was 44.6%. Severe ROP was mainly detected in <1200 g birth weight and/or <30 weeks gestational age. Antenatal betamethasone was associated with non-severe form of ROP (P < 0.05) on univariate analysis, but could not pass multivariate logistic regression analysis. Among other perinatal factors studied, low birth weight (<1200 g) (odds ratio [OR]: 19.699, 95% confidence interval [CI]: 2.42-160.17, P = 0.005), low gestational age (<30 weeks) (OR: 36.52, 95% CI: 3.76-354.3, P = 0.002), acidosis (OR: 6.932, 95% CI: 1.16-41.33, P = 0.034) and blood transfusion (OR: 14.11, 95% CI: 1.494-133.5, P = 0.021) were associated with babies in severe ROP in an independent manner.Conclusions:Low birth weight and low gestational age emerged as independent significant risk factors along with blood transfusion and acidosis. Antenatal betamethasone may be preventive for severe ROP. More studies are however recommended.

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Neuronal migration defects are rare causes of seizure disorder and developmental problems. Schizencephaly the most severe form is an extremely rare entity. Here a rare case of bilateral schizencephaly (open and closed type in the same patient) is reported.

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