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Parry-Romberg syndrome in Kuwait. Neurological manifestations in 2 children.
We reported 2 cases of progressive hemifacial atrophy with different neurological manifestations from Kuwait. The first case was a 14-year-old boy who initially presented with recurrent transient stroke-like episodes followed by focal seizures and hemifacial atrophy. Magnetic resonance imaging showed significant white matter changes and cerebral hemiatrophy. The second case was a 7-year-old girl who presented with complex partial seizures and hemifacial atrophy, her magnetic resonance imaging scan showed minimal changes in the hemiatrophy of the temporal cerebral lobe. Both patients' disease activity was well controlled wi...
Source: Saudi Medical Journal - July 11, 2019 Category: Middle East Health Tags: Saudi Med J Source Type: research

A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency
Conclusion: We identified a novel non-sense mutation in MTHFR gene in a single Egyptian family with severe MTHFR deficiency. The present investigation is clinically important, as it adds to the growing list of MTHFR mutations, which might help in genetic counseling of families of affected children and proper genotype-phenotype correlation. Background Severe 5,10-Methylenetetrahydrofolate reductase (MTHFR; OMIM 236250) deficiency is a rare inborn error of metabolism and inherited in an autosomal recessive fashion. It is a very common disorder of folate metabolism and is clinically characterized with low plasma methion...
Source: Frontiers in Neurology - April 23, 2019 Category: Neurology Source Type: research

9. Prevalence and impact of carotid disease in adult Saudi patients undergoing isolated coronary artery bypass surgery on early post-operative outcome
Conclusion The Presence of carotid artery disease in Saudi patients undergoing cardiac surgery is associated with increased prevalence of diabetes, hypertension, cerebro-vascular accidents and peripheral vascular disease. It is also a major determinant of adverse outcome after coronary surgery.
Source: Journal of the Saudi Heart Association - September 28, 2015 Category: Cardiology Source Type: research