Intellectual Disability in Indian Children: Experience with a Stratified Approach for Etiological Diagnosis.

Objective: To study the clinico-etiological profile of children with intellectual disability using an algorithmic approach. Design: Cross-sectional study. Setting: Tertiary care centre in Northern India. Participants: Consecutive children aged 3 months to 12 years, presenting with intellectual disability, confirmed by Developmental Assessment Scale for Indian Infants, Binet Kulshreshtha Test and Vineland Social Maturity Scale. Method: All children were assessed on an internally validated structured proforma. A targeted approach included thyroid function tests, Brainstem evoked response audiometry, electroencephalogram, neuroimaging and metabolic screen done as a pre-decided schema. Genetic tests included karyotyping, molecular studies for Fragile X, Multiplex Ligation Dependent Probe Amplification and Array Comparative Genomic Hybridisation. Results: Data of 101 children (median age 22 months) was analyzed. The etiological yield was 82.1% with genetic causes being the most common (61.4%) followed by perinatal acquired (20.4%), CNS malformations (12%), external prenatal (3.6%), and postnatal acquired (2.4%). Mild delay was seen in 11.7%, moderate in 21.7%, severe in 30.6% and profound in 35.6%. Conclusion: It is possible to ascertain the diagnosis in most of the cases of intellectual disability using a judicious and sequential battery of tests.

Infantile haemangio-endothelioma of liver: a case report.

Infantile haemangio-endothelioma of liver is the most common symptomatic vascular tumour of liver. A 6-month-old female was admitted for evaluation of a mass in the right hypochondrium. It extended 5 cm below the right costal margin. USG of the liver revealed multiple hypo-echoic lesions within the liver. Non-contrast CT images showed multiple hypo-attenuating masses of lower density than the surrounding liver. A postcontrast CT revealed intense enhancement of all the lesions. The findings suggested an infantile haemangio-endothelioma of the liver. On follow-up USG after 8 months near complete involution of the mass was revealed.

Non-invasive evaluation of endothelial function, arterial mechanics and nitric oxide levels in children of hypertensive parents.

OBJECTIVE: To evaluate endothelial function, arterial mechanics and nitric oxide levels in apparently healthy children of hypertensive parents. DESIGN: Analytical observational study. SETTING: Tertiary Care hospital. MATERIAL: The group comprised 40 non-obese normotensives (11-18 years). Out of these, 20 were children of parents (one or both) with hypertension (systolic >140 mm Hg, diastolic > 90 mm Hg) while the rest were children of normotensive parents (controls). High resolution ultrasonography was performed to measure flow mediated and glyceryltrinitrate induced dilatation in the brachial artery and arterial mechanics in the common carotid artery. Fasting blood was assayed for nitric oxide by the Griess method. RESULTS: Flow mediated dilatation (FMD) was decreased in children of hypertensive parents as compared to controls (0.016 + 0.007 cm vs 0.075 vs 0.075 7plus; 0.130 cm, p < 0.05) the difference being statistically significant. But subsequently, the post glyceryl-trinitrate (GTN) dilation was comparable in both with no statistical significant difference being noted. Arterial mechanics (carotid intima-media thickness-C-IMT) were comparable in both the groups. Similarly nitric oxide levels estimated in platelet rich and platelet poor plasma were comparable in both the groups, with no statistical significance. CONCLUSIONS: Flow mediated vasodilatation (FMD) in the brachial artery was decreased in children of hypertensive parents as compared to controls. Subsequent post GTN vasodilatation was comparable in both the groups because, GTN acts directly on vascular muscle and not on endothelium. Similarly, arterial mechanics (C-IMT) and nitric oxide estimation in platelet rich and platelet poor plasma were comparable in both the groups. It is, therefore, concluded that children of hypertensive parents have evidence of endothelial dysfunction, as shown by the decrease in flow mediated dilatation, which could be an early marker for the development of coronary artery disease.

Moyamoya disease--magnetic resonance imaging and magnetic resonance angiographic features.

A rare case of moyamoya disease in a 9-year-old female presented with behavioural disturbances and recurrent hemiparetic attacks is reported. Moyamoya disease is an uncommon form of arteritis which affects the cerebrovascular circulation. Magnetic resonance angiography is a non-invasive technique for evaluation of the carotid and vertebrobasilar circulation. The magnetic resonance angiography findings are typical and characteristic of this disease.