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Document Type

Original Article

Abstract

To find out the spectrum of clinical presentation and typesof neurodegenerative disorders of childhoodin tertiary care child neurology centre of Pakistan. To find out the role of brain imaging in the diagnosis of degenerative brain disorders in children. Methods: It will bea retrospective, descriptive study conducted at department of paediatric neurology,The Children’s Hospital, Institute of child health, Lahore, Pakistanfrom January 1st,2004 to December 31,2013 (10 years). A total of 22,737 patients were admitted in the Paediatric Neurology department in the above said period. Out of them 366 children fulfilled the inclusion criteria. History, clinical examination and relevant investigations were evaluated from the files manually and proformas were filled. Results: Male to female ratio was 1.43:1 with 78% incidence of consanguinity. Age range was twenty five months to eighteen years. Metachromatic leukodystrophy was the predominant type(21%) followed by adrenoleukodystrophy(1%) and cerebral atrophy (9.5%)and 3% of each Alexander disease, Hellervordenspatz disease, one case each of multiple sclerosis and ataxia telangiectasia. Conclusion: Degenerative brain diseases are common entity in paediatric population. Commonest presentation is regression of mile stones with variable presentation. General pediatriciansmust be aware of their clinical presentation look into it when dealing with children having regression of milestones to diagnosethem earlier.Because of limited diagnostic modalities, brain imaging has significant valve. Facilities for molecular genetics and enzymes should have been available. Regional diagnostics laboratories should have been established and more research is required in this area.

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