الفهرس | Only 14 pages are availabe for public view |
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) |