We experienced a case in which mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) was identified as complications following the onset of Leigh syndrome along with a 10191 T>C mutation of the mitochondrial gene. The case pertains to a 26-year-old woman. The disease appeared when she was 11 years old due to divergent strabismus, at which point a diagnosis of juvenile Leigh syndrome was made.
View Article and Find Full Text PDFWe report the first case of Beckwith-Wiedemann syndrome without urinary obstruction, but with a congenital urethral polyp as a tumor protruding from the external urinary meatus. The present case suggests a possible relation between Beckwith-Wiedemann and the onset of fibroepithelial polyps in the reno-urinary system during the neonatal period.
View Article and Find Full Text PDFPediatr Blood Cancer
April 2007
We report a case of primary leptomenigeal lymphoma (PLML) in an 11-year-old boy presenting with headache, vomiting, and diplopia. The patient was treated on an advanced non-Hodgkin lymphoma protocol with systemic/intrathecal chemotherapy without cranial radiotherapy. He remains in complete remission 33 months after treatment.
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