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
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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)