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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

A Genetic Variant of miR-34a Contributes to Susceptibility of Ischemic Stroke Among Chinese Population
This study was supported by National Natural Science Foundation of China (Nos. 81560552, 81260234), Natural Science Foundation of Guangxi Zhuang Autonomous Region (CN) (2017JJA180826), Innovation Project of Guangxi Graduate Education (CN) (201601009) and Key Laboratory Open Project Fund of Guangxi Zhuang Autonomous Region (CN) (kfkt20160064). Conflict of Interest Statement The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. Supplementary Material The Supplementary Material for this article can be fou...
Source: Frontiers in Physiology - April 23, 2019 Category: Physiology Source Type: research

Cardioembolic Stroke from an Atrial Myxoma in a Pediatric Patient: A Case Report and Review of the Literature.
Authors: Aldajani AA, Mudhry MA, Mir A, Albaradie RS Abstract Cardioembolic stroke is an uncommon phenomenon in pediatric patients. Although the heart is the usual source of the condition, cardiac myxomas are still considered to be a rare cause in children. The case is presented of a 13-year-old, right-handed Saudi boy who showed right-sided weakness for 30 h prior to hospital admission that involved the face, arm, and leg, with slurred speech. The patient had been discharged previously from a local hospital, without active management. An examination showed decreased strength on the right side, with hyperreflexia a...
Source: Journal of Heart Valve Disease - September 13, 2018 Category: Cardiology Tags: J Heart Valve Dis Source Type: research