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Purpose: Preterm infants are at increased risk of adverse neurodevelopmental outcome (NDO). Cranial ultrasound has limited predictability. The purpose of the study is to evaluate whether magnetic resonance imaging (MRI) done at term equivalent age (TEA) predicts NDO at 18-22 months of corrected gestational age (CGA). Materials and methods: This cohort study of preterm infants born at ≤32 weeks of gestation and/or birth weight <1500 grams between April 2011 and August 2012 was conducted in a tertiary care institute in India. MRI done at TEA was reported using objective scoring. NDO at 18-22-month CGA was assessed using Bayley Scale of Infant Development (BSID) version III. Composite score (CS) < 85 in motor, language, or cognition domain was taken as adverse NDO. Association between individual MRI subscores and NDO was evaluated using multiple linear regressions by backward elimination method. Validity of MRI abnormality in predicting adverse NDO was assessed. Results: Out of 94 infants who had MRI at TEA, 56 (60%) underwent BSID III. Mean gestational age was 29.8 ± 2.1 weeks. Median CS of all domains was lower with higher total MRI score. Predictive accuracy for various subscores ranged from 55 to 73%. By multiple regression analysis, signal abnormality was associated with motor delay (β -8.4; p .02) and cystic white matter (WM) changes with motor delay (β -7.3; p .003) and cognitive delay (β -6.1; p .005). Conclusions: Although specificity and negative predictive value were moderate to high across all subscores in MRI to predict the NDO, the accuracy has been only low to moderate, which limits its use as sole predictor.

Objectives: To assess the spectrum of Magnetic Resonance Imaging (MRI) abnormalities among preterm babies at term equivalent age using objective scoring and to study the association among MRI variables., Methods: Ninety-four preterm babies born at ≤32 wk of gestation and / or birth weight ≤ 1500 g at term equivalent age who underwent cranial MRI between April 2011 and August 2012 and the MRI interpreted by experienced radiologists were studied. In 2014, the MRI was retrospectively re-interpreted by the same radiologists using an objective scoring system described by Kidokoro. Spectrum of MRI abnormalities, their association with perinatal variables and correlation among white matter (WM), grey matter and cerebellar scores were analyzed., Results: MRI abnormalities observed were WM signal abnormality (24 %), lateral ventricular dilatation (16 %), WM cystic abnormality (13 %), deep grey matter signal abnormality (9 %), cerebellar volume reduction (9 %) and deep grey matter volume reduction (8 %). Sepsis was significantly associated with occurrence of WM and cerebellar abnormalities (p < 0.05). WM scores did not show significant correlation with cortical grey matter and deep grey matter scores while cerebellar scores showed a weak positive correlation with WM (r = 0.33), cortical grey matter (r = 0.27) and deep grey matter scores (r = 0.22)., Conclusions: MRI abnormalities are common in preterm infants, with 60 % showing some abnormality at term equivalent age. Among perinatal characteristics, sepsis was identified as risk factor for WM and cerebellar injury. Grey matter abnormality occurs independent of WM abnormality. Cerebellar abnormalities appear to coexist with either WM or grey matter changes.

In neonates with more than one clinical abnormalities, we always look for a unifying diagnosis that explains the entire clinical presentation. In rare instances, two conditions can co-exist. Here, we report a neonate born out of consanguineous marriage presenting at 48 hours of life with microcephaly, encephalopathy, hypertonia. He had excessive weight loss, persistent hyperkalaemia, shock and elevated level of 17- hydroxyprogesterone. Steroids were started for adrenal insufficiency. Magnetic resonance imaging (MRI) of the brain revealed T2 hyperintensity of cerebral white matter, hypomyelination and parenchymal volume loss causing microcephaly. Clinical exome sequencing (CES) revealed a pathogenic homozygous missense variation of CYP21A2 gene responsible for congenital adrenal hyperplasia and also the presence of a homozygous missense variant of unknown significance (VUS) of VARS gene implicated in neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (NDMSCA). Baby was neurologically abnormal at discharge. In the setting of consanguinity, there is a possibility of two genetic conditions. Clinical exome sequencing test is useful in demystifying the diagnosis in complex clinical presentation. [ABSTRACT FROM AUTHOR]