• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.25-30
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• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

• Radiation Oncology Journal
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• v.20 no.2
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• pp.139-146
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• 2002

Purpose : This study evaluated the treatment outcomes, patterns of failure, and treatment related complications of primary lymphoma patients who received definitive radiation therapy. Materials and Methods : A retrospective analysis was undertaken for 31 patients with primary orbital lymphoma at the Asan Medical Center between February 1991 and April 2001. There were 18 males and 13 females with ages ranging from 3 to 73 years (median, 44 years). The involved sites were 9 conjunctivae, 12 eyelids and 10 other orbits. The histological types were 28 MALT lymphomas (low-grade B-cell lymphoma of mucosa-associated lymphoid tissue type), 1 diffuse large B-cell lymphoma, 1 anaplastic large cell lymphoma and 1 lymphoblastic lymphoma. The Ann Arbor stages were all IE $(100\%)$. Ann Arbor stage III or IV patients were excluded from this study, Bilateral orbital involvement occurred in 6 cases. Radiation therapy was given with one anterior port of high energy electrons $(6\~16\;MeV)$ for the lesions located at the anterior structures like the conjunctivae or eyelids. Lesions with a posterior extension or other orbital lesions were treated with 4 or 6 MeV photons with appropriately arranged portals. In particular, lens blocks composed of lead alloy were used in conjunctival or eyelid lesions. Twelve patients received chemotherapy. The median follow-up period was 53 months. Results : The 5-year overall, cause-specific, and disease-free survival was $91\%,\;96\%,\;and\;80\%$, respectively. The complete response rate 6 months after radiation therapy was $100\%$. Local recurrences were observed in 2 patients at 16 and 18 months after completion of radiation treatment. They were salvaged with additional radiation therapy. Two patients developed distant metastases. A MALT lymphoma patient with a lung relapse was successfully salvaged with radiotherapy, but the other lymphoblastic lymphoma patient with bone marrow relapse expired. There were no severe complications but 5 patients developed radiation-induced cataracts and 2 patients developed dry eye. Conclusion : Most primary orbital lymphomas consisted of MALT lymphomas. Radiation therapy was a successful treatment modality for orbital lymphoma without any severe complications. In cases of local relapses, radiation therapy is also a very successful salvage treatment modality.