الفهرس 
Patients And MethodsOnly 14 pages are availabe for public view
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Abstract
Metabolic brain disorders once thought to be relatively rare are now thought to be the most prevalent neurological disorders.
Many childhood conditions are caused by gene mutations that encode specific proteins.
These mutations can result in alteration of primary protein structure or the amount of protein synthesized. The function of protein whether it is a enzyme, receptor transport vehicle, membrane or structural element may be relatively or seriously compromised. These children may present with one or more of a large variety of signs and symptoms which include metabolic acidosis persistent vomiting, developmental delay or failures to thrive.
Most of these conditions are usually and are often lethal if proper therapy is not promptly initiated. Therefore every effort should be made to determine the diagnosis while the infant or child is still alive. Diagnosis usually requires a variety of specific laboratory studies and radiological screening.
Magnetic resonance spectroscopy (MRS) imaging can identify the start of degeneration in patients were classified according to their clinical presentation into 4 groups: group 1- Mitochondrial disorders the majorities 50% which were subclassified to Leigh syndrome (26.7%) 8 cases, Familial dystonia 3 cases( 10%) , MERRF 1 case (3% ), MELAS 1 case (3.3%), Pyruvate Carboxylase D 1 case (3.3%) , Mitochondrial Leukoencephalopathy 1 case (3.3%). Group II neurodegenerative 40% which subclassified to Canavan D 3 cases (10%) , Metachromatic leukodystrophy 3 cases (10%) , Adrenoleuko dystrophy 1 case (3%) , Alexander 1 case (3.3%) , Neuronal ceroid lipofuscinosis 1 case (3%) , Leukodystrophy of unknown etiology 2 case (6.7%) . group III Aminoacidopathy 1 case (3.3 % ) (Maple syrup U . D) .group IV Organic aciduria 3 cases (10%) in which Methyl malonic academia 2 cases 6.7% , Glutaric aciduria type I case( 3.3%).
The clinical presentation of our 30 cases are illustrated in table (3 and 4 ) the main neurological manifestations bringing the patient to clinical attention were global developmental delay, Hypertonia, hypotonia, hyperreflexia, dystonia, tip toe walking, seizures, coma
MRI findig in cases shows:
1- high signal intensity lesion involving the white matter on t2w & flair MRI & as a low signal intensity lesion on T 1 w MRI.
2- Bilateral and symmetrical high signal intensity lesions on T 2 w MRI observed mainly in the putamen.
3- Special characters :
- Multiple hypodense areas, mostly infraction appearing in a scattered distribution in the frontal regions as well as in the basal ganglia in brain CT scan and as a high signal intensity lesion on t 2 w brain MRI in a case of MELAS.
- Cerebellar atrophy abnormal white matter in a case of MERRF
- Large Sylvain fissure in a case of Glutaric Aciduria type I .
- Cerebral & Cerebellar atrophy in case of Neuronal ceroid lipofuscinosis.
MRS findingin cases were:
high lactate peak which is diagnostic for Mitochondrial diseases .
One case was showing high choline peak which is diagnostic for ALD
3 cases were showing high NAA peak which is diagnostic for Canavan D.
3 cases were showing decrease choline increase NAA / Cho and decrease choline / Cr Peak which is diagnostic for Metachromatic LD .
1 cases was showing increased choline a reduction of N-acetylaspartate which is diagnostic for Alexander D.
1 case was shown which is decreased NAA, elevated Cho & Lactate diagnostic for MSUD.
from that our resulte shows:
MRS has specific golden role as a diagnostic tool in sub clinical calcification of metabolic brain disorders
As the shows in cases with Canavan D, ADL ,Metachromatic leukodystrophy ,Alexander D, it gives results more specific than MRI A and in the cases of mitochondrial disorders it was a confirmatory test for final diagnosis.