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Introduction: There is shortage of specialists for the diagnosis of children with neuromotor impairments (NMIs), especially in resource limited settings. Existing International Clinical Epidemiology Network (INCLEN) instrument for diagnosing NMI have been validated for children aged 2-9 years. The current study modified the same including wider symptomatology and age group (1 month to 18 years)., Methods: The Modified INCLEN diagnostic tool (INDT) was developed by a team of experts by modifying the existing tool to widen the age range (1 month to 18 years) and include broader symptomatology (inclusion of milestones from the first 2 years of life and better elucidation of cerebellar and extrapyramidal features) in a tertiary care teaching hospital of North India between January and April 2015. A trained medical graduate applied the candidate tool, which was followed by gold standard evaluation by a Pediatric Neurologist (both blinded to each other)., Results: A total of 197 children (102 with NMI and 95 without NMI) were enrolled for the study. The sensitivity, specificity, positive and negative predictive values, positive and negative likelihood ratio of the modified NMI tool were 90.4% (82.6-95.5), 95.5% (88.7-98.7), 95.5% (88.9-98.7), 90.3% (82.4-95.5), 19.9 (12.1-32.6), and 0.13 (0.08-0.12), respectively., Conclusion: The All India Institute of Medical Sciences modified INDT NMI tool is a simple and structured instrument covering a wider symptomatology in the 1 month to 18 years age group with acceptable diagnostic accuracy.

Objectives: There is shortage of specialists for the diagnosis of children with epilepsy, especially in resource limited settings. Existing INCLEN (International Clinical Epidemiology Network) instrument was validated for children aged 2-9 years. The current study validated modifications of the same including wider symptomatology and age group., Methods: The Modified INCLEN tool was validated by a team of experts by modifying the existing tools (2-9 years) to widen the age range from 1 month to 18 years and include broader symptomatology in a tertiary care teaching hospital of North India between January and June 2015. A qualified medical graduate applied the candidate tool which was followed by gold standard evaluation by a Pediatric Neurologist (both blinded to each other)., Results: A total of 197 children {128 boys (65%) and 69 girls (35%)}, with a mean age of 72.08 (±50.96) months, completed the study. The sensitivity, specificity, positive and negative predictive value, positive and negative likelihood ratio of the modified epilepsy tool were 91.5% (84.5-96.1), 88.6% (80.0-93.5), 89.7% (81.9-95.3), 90.8% (83.7-95.7), 8 (6.6-9.8) and 0.09 (0.07-0.12) respectively., Significance: The new modified diagnostic instruments for epilepsy is simple, structured and valid instruments covering 1month to 18 years for use in resource limited settings with acceptable diagnostic accuracy. All seizure semiologies as well as common seizure mimics like breath-holding spells are included in the tool. It also provides for identification of acute symptomatic and febrile seizures., (Copyright © 2017. Published by Elsevier B.V.)

Alexander disease is an autosomal dominant leukoencephalopathy characterized by developmental delay, macrocephaly, and characteristic neuroimaging abnormalities predominantly involving frontal lobes. We report a 6-year-old Indian boy with infantile-onset Alexander disease, who has an unusually mild clinical course and a de novo p.Leu359Val mutation in the glial fibrillary acidic protein gene.

A 10-year-old girl presented with progressive proximal limb muscle weakness without facial, ocular, or bulbar muscle involvement. There was no fatigability or diurnal fluctuation in symptoms. Her weakness worsened with febrile illnesses and recovered with accruing disabilities over a few weeks. Serum creatine kinase levels and muscle biopsy were normal. A significant decrement on repetitive nerve stimulation test and positive response to therapeutic neostigmine challenge test confirmed the diagnosis of limb-girdle myasthenia. She responded well to corticosteroids and thymectomy, demonstrating a likely autoimmune etiology. This case highlights the long-term fluctuations in a case of myasthenia gravis and the need for a high index of suspicion for myasthenia in children presenting with unexplained muscle weakness, even in the absence of typical features such as fatigability, diurnal fluctuation, and oculobulbar weakness.

We describe a 14-month-old girl who presented with arterial ischemic stroke due to moyamoya disease, unilateral renal agenesis and external iliac artery stenosis. The association of moyamoya disease with renal agenesis and external iliac artery stenosis has not been described before. This report expands the spectrum of moyamoya disease and suggests that moyamoya disease may have an intrauterine onset., (Copyright © 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)

Asymmetric overgrowth has many differential diagnoses with considerable overlap, posing a diagnostic dilemma. The presence of chylous ascites, though unreported, might be expected as a manifestation of overgrowth syndromes with lymphatic involvement. We present a patient with hemihypertrophy who presented with chylous ascites at birth.