الفهرس 
Acute , subacute and chronic encehephalopathies in infancy and early childhoodOnly 14 pages are availabe for public view
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Abstract
Background: Progressive neurological disease in children poses an
important challenge to health systems in terms of diagnosis and
management. Progressive Encephalopathy is often used interchangeably
with neurodegenerative encephalopathy. Both terms lack a firm definition,
but PE is preferred because it encompasses clinically progressive conditions
without demonstrable neuronal loss as well as those with a demonstrable
loss of neural tissue. They are often detected by magnetic resonance imaging
(MRI) examination
Objectives: The study aimed to determine the value of different radiological
and laboratory studies as diagnostic tools for different etiologies of
progressive encephalopathy (PE) and to investigate the realation between
them. The study also aimed to illustrarte the prevalence of different
etiologies of PE among outpatient clinic attendants.
Methods: Our study is a cross-sectional descriptive study. It included 79
patients aged between 3 months old up to 12 years old who sought medical
advice at Neuropediatrics Clinic, Fayoum University Hospitals. They
presented with progressive alteration of mental status with/without motor
affection during a period of 18 months from December 2016 till June 2018.
Results: Out of 79 cases showing manifestation of Progressive
Encephalopathy: A-15 cases (19%) were diagnosed as Neurocutaneous
diseases: 3 cases as SWS (3.8%), 6 cases as NF 1(7.6%) and 6 cases as TS
(7.6%).B-Inherited metabolic diseases represented 55 cases (70%).fourteen
cases were diagnosed as mitochondrial diseases (17.7%) and white matter
diseases in 7 cases (8.9%) ( 1 case of Van der knapp , 2 cases of canavan
disease,2 cases of metachromatic leukodystrophy ,1 case of krabbe and 1
case of adrenoleukodystrophy).Sixteen cases were diagnosed as storage
diseases (20.2%): 3 cases as Wilson disease (3.7%),5 cases as Gaucher
disease (6.4%) ,4 cases as NP (5%) and 4 cases as Taysachhs disease
(5%).Three cases were diagnosed as urea cycle disorders(3.7%).Five cases
were diagnosed as Glutaric acidurea ( 6.4%) and 5 cases as PKU (6.4%).The
study showed 2 cases of maple syrup (2.5%),1 case of propionic academia, 1
case of lysinuric protein intolerance and 1 case of Biotinidase enzyme
deficiency (1.25% each).C- Epileptic syndromes were 4 cases (5%) ( 2 cases
of Dravet syndrome and 2 cases of West syndrome). Five cases were
undiagnosed and need molecular testing.
Abstract
V
The most common cause of PE was inherited metabolic diseases
(70%) while mitochondrial diseases represented 17.7% of all cases. White
matter diseases accounted for 8.9% of cases. Gaucher disease, Gluratic
acidurea and PKU were present in 6.4% each. Neurocutaneous disorders
accounted for 19%.
The early age of presentation strokes alarms for Inherited Metabolic
diseases as Neurometabolic and urea cycle diseases (17/18 cases of this
group were diagnosed before 2 years of age and 7/18 cases were diagnosed
during neonatal period), Mitochondial diseases (100% of cases during
infancy), white matter diseases (5/7 cases diagnosed during infancy except
for van der knapp and adrenoleukodystrophy. The late age of manifestations
rise susceptibility of Neurocutaneous disorders and Wilson disease as well.
Gaucher disease can be diagnosed at any age.
Conclusion: Careful Examination is very important in all cases of PE.
Imaging studies can be the next step to confirm diagnosis in case of
neurocutaneous syndromes. Neurometabolic diseases can be diagnosed by
laboratory and enzyme assay. Neonatal screening programs can spare time
and effort. Molecular diagnosis can be a helpful diagnostic tool in case of
doubtful or undiagnosed. MRS is helpful for diagnosis of mitochondrial
diseases as well as Canavan disease. Epileptic syndromes can be diagnosed
clinically together with EEG (west syndrome) and by molecular diagnosis.
Undaignosed cases need molecular testing for diagnosis.
Keywords: Progressive Encephalopathy (PE), Inherited Metabolic Diseases,
Magnetic Resonance Spectrometry (MRS)