Diagnostic issues and clinical spectrum of childhood degenerative brain diseases

Pakistan Journal of Neurological Sciences (PJNS), Dec 2014

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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Diagnostic issues and clinical spectrum of childhood degenerative brain diseases

Pakistan Journal of Neurological Sciences (PJNS) Diagnostic issues and clinical spectrum of childhood degenerative brain diseases Tipu Sultan 0 Ashfa Ameer Khan 0 Th e Children's Hospital 0 ICH Lahore 0 Muhammad Arshad Khawaja 0 Th e Children's Hospital 0 ICH Lahore 0 Ahsan Waheed Rathore 0 0 Th e Children Hospital and Institute of Child Health , Lahore , Pakistan 1 Department of Paediatric Medicine, The Children Hospital and Institute of Child Health , Lahore , Pakistan 2 Department of Radiology, The Children Hospital and Institute of Child Health , Lahore , Pakistan 3 Department of Paediatric Neurology, The Children Hospital and Institute of Child Health , Lahore , Pakistan Follow this and additional works at: http://ecommons.aku.edu/pjns Part of the Neurology Commons Recommended Citation - Article 5 DIAGNOSTIC ISSUES AND CLINICAL SPECTRUM OF CHILDHOOD DEGENERATIVE BRAIN DISEASES Correspondence to: Dr. Tipu Sultan, 598-D, Johar Town, Lahore, Pakistan. E-mail: Date of submission: August 19, 2014, Date of revision: October 20, 2014, Date of acceptance: November 1, 2014 Objectives: 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. INTRODUCTION Degenerative brain diseases (DBD) are chronic, progressive disorders of brain with invariably fatal outcome (1).Majority of these disorders are genetic in nature in which a child start regressing milestones (2). Progressive loss of acquired milestones are the chief symptoms along with seizures, spasticity, feeding difficulties, visual or hearing impairment and regression of intellect (3).Neurodegeneration in children is increasingly recognized by general practitioners and pediatricians because of increasing awareness (4). In the young children, they represent an important cause of progressive neurological disability. They are frequently recognized on MRI, but their identification remains a challenge (5). Precisediagnosis is important for prognosis, palliative care and possible treatment options. It is also mandatory for family screening and genetic counseling (6).The diagnostic strategy rests upon clinical clues and MRI patterns, complemented by appropriately selected electrophysiological and laboratory testing. Considerable overlap exists between white and gray matter disease, as neuronal degeneration will result in myelin loss. An understanding of the pathophysiology and natural disease evolution is necessary for the development of treatment modalities (7). Majority of DBD require long term palliative care as many has limitedtherapeutic options, sofor the purpose of genetic counseling, correct diagnosis is important (8). These daysbrain and rectal biopsies are practically not done andadvancement in neuroimaging techniques and molecular genetics has replaced them ( 9 ). Pakistan has high birth rate and consanguinity is one of the major reason for huge burden of inherited neurometabolicdisoders (10).The disease is more common than had been previously recognized due to phenotypic variability and wide spectrum of presentation. Because of poor diagnostic facilities, this condition was not well understood (11). We have limitedcommunity based local data available to quantify the burden of disease ( 12 ). Only local data available is from tertiary care hospital ( 13 ). This study was designed to find out the dif (...truncated)


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Tipu Sultan, Ashfa Ameer Khan, Muhammad Arshad Khawaja, Zia ur Rahman, Ahsan Waheed Rathore. Diagnostic issues and clinical spectrum of childhood degenerative brain diseases, Pakistan Journal of Neurological Sciences (PJNS), 2014, pp. 14-19, Volume 9, Issue 4,