Last modified: 2018-09-09
Abstract
Objectives: To study the clinical and radiological features and outcomes of inherited white-matter disorders in children
Design: Retrospective review of clinic files and prospective follow-up
Period: 12 months (July 2017-July 2018)
Subjects: Children birth-14 years of age with a probable/confirmed inherited white-matter disorder. Methods: All neuroimages were reviewed by an independent neuroradiologist. Functional outcomes assessed by Paediatric Cerebral Performance Category (PCPC) and Modified Rankin Scales (MRS).
Results: Total children enrolled in Neurodevelopmental clinic during study period was 947. Inherited white-matter disorders were identified in 57 children; clinic-based frequency was 6%. Majority were males 60% (n=34). Most prevalent disorders were Krabbe disease 17% (n=10), megalencephalic leukoencephalopathy 12% (n=7), Aicardi Guttiéres 7% (n=4), metachromatic leukodystrophy 12% (n=7), mitochondrial leukoencephalopathy 12% (n=7), adrenoleukodytrophy 10.5% (n=6), Wilson disease with white matter changes 4% (n=2), Tay Sach’s 4% (n=2), Canavan 2% (n=1), Alexander 2% (n=1), vanishing white matter 2% (n=1), Methylmalonic aciduria 5% (n=3), and maple syrup urine 4% (n=2) and unclassified 7% (n=4). Clinic-radiological diagnosis was confirmed by enzymatic testing in 19% and genetic testing in 10%. Outcome analysis is currently complete for 23 children. Severe (43%), moderate (30%) and mild (9%) disability were noted on PCPC. Severe (22%), moderately-severe (27%), moderate (22%), and slight (17%) disability were noted on MRS. Ten (18%) children expired in follow-up. Common comorbidities were seizures, spasticity, feeding, hearing and vision problems and recurrent infections.Conclusion: Our study represents the largest single-centre experience with childhood-onset leukoencephalopathies. Most common leukoencephalopathies are Krabbe and megalencephalic leukoencephalopathy in India.