[A case of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode/Leigh overlap syndrome].

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. Many infraction images not conforming to the vessel region were observed upon a brain MRI which was performed at 26 years of age, thus leading to her being diagnosed with MELAS as a complication. Upoon bibliographical consideration, it was speculated that the clinical features of MELAS/Leigh overlap syndrome clearly differ from Leigh syndrome in terms of age of onset, symptoms, and prognosis. Pleiotropic genetic factors including heteroplasmy were presumed to be involved in the diverse phenotype of overlap syndrome.

Neonatal urethral polyps associated with Beckwith-Wiedemann syndrome.

We 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.

Pediatric primary leptomeningeal lymphoma treated without cranial radiotherapy.

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.