MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy) is an ultra-rare autosomal recessive disorder that leads to mutations in the nuclear genes encoding thymidine phosphorylase. Symptoms include gastrointestinal dysmotility, cachexia, ptosis, external ophthalmoplegia, sensorimotor neuropathy and asymptomatic leukoencephalopathy. We describe the first case of MNGIE with meningoencephalitis that ultimately led to a familial diagnosis ending a diagnostic odyssey.
View Article and Find Full Text PDFBackground: Mental disorders can significantly impact children's lives and affect their emotional, cognitive, and behavioral development. Family support and care is critical to the well-being of children, particularly children with mental disorders. However, given the "gap" between research and practice"," there have been very few studies in the Arab region that focus on the role of the family in supporting children with mental disorders.
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