• Journal of The Korean Society of Inherited Metabolic disease
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• v.5 no.1
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• pp.33-43
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• 2005

Purpose: X-linked adrenoleukodystrophy(ALD) is a rare disorder that shows a great deal of phenotypic variability. We subdivided chidhood X-linked ALD patients into several phenotypes by the age at onset, the sites of most severe clinical involvement and the rate of progression of neurologic symptoms. Methods: Thirteen patients who had been diagnosed as X-linked ALD and followed up for at least one year were enrolled from 1996 to 2003. Results: 1. Ten had childhood cerebral ALD, who showed first neurologic symptoms at 7.02 years and progressed rapidly: interval between first symptoms and vegetative state was 1.35 years, and interval from initial symptoms to death was 3.35 years. Treatment with Lorenzo's oil did not prevent neurologic progression. Two patients who underwent umbilical cord blood transplantation died. 2. Two had adolescent cerebral ALD. They had first symptoms at 11.5 years, and showed tendency to progress less rapidly than childhood cerebral form patients. 3. One "Addison only" patient who had adrenal insufficiency without nervous system involvement remained asymptomatic during Lorenzo's oil treatment. 4. All cerebral form patients except one showed the lesions in both parieto-ocipital white matter in brain magnetic resonance imaging. Conclusion: The cerebral ALD was the most common form in childhood and was asoociated with a serious prognosis.

• Clinical and Experimental Pediatrics
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• v.52 no.7
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• pp.772-777
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• 2009

Purpose : We aimed to compare the effectiveness of 2 developmental tests-Korean Infant and Child Development Test (KICDT) and Korean Bayley Scale of Infant Development-II (K-BSID-II)-in the assessment of children with developmental delay. Methods : Twenty-eight children with suspected developmental delay, who visited the Department of Pediatrics in Asan Medical Center from February 2007 to June 2008 were enrolled. They were examined using both KICDT and K-BSID-II. The results of the tests were compared on the basis of 2 parameters: age group of the children and detection of organic brain lesion on magnetic resonance imaging (MRI). The correlation between the results of the 2 tests was analyzed using SPSS. Further, intraclass correlation coefficient was calculated using SAS to examine consistency between the results of the 2 tests. Results : The mental developmental index of K-BSID-II showed significant correlation with every KICDT score (P<0.01). The psychomotor developmental index of K-BSID-II was also significantly correlated with every KICDT score except the fine motor score (P<0.01). The mental developmental index of K-BSID-II showed significant correlation [Editor20] with the KICDT gross motor, fine motor, and language scores (P<0.05). Further, there was significant correlation between the psychomotor developmental index of K-BSID-II and the KICDT gross motor score (P<0.05). Conclusion : There was significant [Editor21]correlation between the results of KICDT and K-BSID-II for infants and children with developmental delay. Although our results suggest that KICDT is useful in assessing developmental delay, further research would be needed to standardize this test.

• 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.